Chapter 8

Illustrative Cases

Introduction

This chapter comprises case histories written in short note form that illustrate the method of assessment previously described and the use of the ACE-III. I have not attempted a comprehensive coverage of all cognitive disorders, but have selected a number of recent cases with either important common conditions (such as Alzheimer’s disease) or interesting neuropsychological syndromes (such as prosopagnosia). Each case history is followed by a description of the findings on cognitive assessment, a brief differential diagnosis, and a summary of the principal conclusions, indicating whether the services of a neuropsychologist are required or not.

Case 1. Mild Cognitive Impairment (MCI)

Patient: A.B., 65-year-old retired teacher.

History from patient: One to two years’ increasing concern over recent memory. Symptoms indicate episodic memory disorder with good attention and preservation of semantic knowledge. No features of depression.

History from family: Confirmed patient’s history with some repetitiveness and several incidents of forgetting important events. Some problems learning new routes. No personality change except perhaps more anxious and a little apathetic. Preserved activities of daily living (ADLs).

Past medical history: Nil.

Family history: Mother demented in her 80s.

Physical signs: Nil.

Cognitive assessment

General observations: Appropriate, normal effect.

ACE-III

1. Orientation and attention: Missed only the date, attention intact.
2. Memory:

Anterograde: Name and address test: Rapid acquisition of address.

Recall and recognition: Zero recall. Improved with recognition to 3/5.

Retrograde: Normal.

3. Fluency: Good ‘P’ words 13 (scaled score = 5) but reduced animal fluency, 8 correct with 2 perseverations (scaled score = 2).
4. Language:

Spontaneous speech: Normal.

Naming: All correct (12/12).

Repetition: Normal.

Comprehension: Normal.

Reading: Intact.

Writing: Appropriate sentence with no dysgraphic errors.

5. Visuospatial and perceptual: Normal.

See Table 8.1.

Table 8.1 Mental test scores

Investigations

MRI scan: Normal.

Differential diagnosis

MCI.

Other causes of amnesia (Korsakoff’s syndrome etc.).

Depression.

Conclusions: This patient presented with ‘organic’ symptoms confirmed by a family member. Repetitiveness is particularly concerning. No suggestion of depression. Cognitive screening also points towards significant pathology. Formal neuropsychology is mandatory in this case. An FDG-PET scan revealed marked posterior cingulate cortex hypoperfusion. The patient developed more frank Alzheimer type dementia 3 years later.

Note

ACE-III detected amnesia and subtle category fluency deficit common in MCI.

Case 2. Early-Stage Alzheimer’s Disease

Patient: C.B., 50-year-old farmer’s wife.

History from patient: Aware of failing memory, which she has covered up by increasing use of memos and diary, and so on. Concentration and general knowledge good. No features of depression (i.e. good energy level and enjoyment of life, no sleep disturbances, etc.). Information about recent personal and public events clearly poor during history taking.

History from family: Two to three years’ progressive decline in memory, especially evident for new information, with tendency to repetition. No obvious retrograde memory impairment. Has shown spatial disorientation in new environments. Preserved language and practical skills, but some problems managing household accounts and solving problems. Early impairment of instrumental ADLs as unable to use complicated appliances and pay bills. No change in personality or behaviour except some loss of motivation.

Past medical history: Nil.

Family history: Mother developed dementia in 50s and died 10 years later, no formal diagnosis was made.

Physical signs: None.

Cognitive assessment

General observations: Normal appropriate behaviour, no mood disturbance.

ACE-III

1. Orientation and attention: Impaired errors on date, day of week, and building. Lost 1 point on serial 7s backwards.
2. Memory: Impaired.

Anterograde: Name and address test: Normal registration, 7/7 first trial.

Recall and recognition: Very poor delayed recall (0/7) of name and address but improved with recognition: 4 elements correctly identified.

Retrograde: Failed 2 items.

3. Fluency: Mild reduction, ‘P’ words 16 but only 13 correct (scaled score = 5), animals 8 (scaled score = 2).
4. Language:

Spontaneous speech: Fluent, normal articulation and syntax, no paraphasias.

Naming: 10/12 (hippo for rhinoceros, accordian—don’t know).

Repetition: Normal.

Comprehension: Normal.

Reading: Normal.

Writing: Normal spontaneous sentences.

Table 8.2 Mental test scores

5. Visuospatial and perceptual: Poor copy of loops and cube. Clock poorly organized (3/5). Perceptual tasks (dots and fragmented letters)—normal.

See Table 8.2.

Investigations

MRI: Hippocampal atrophy on coronal images (CT not performed, would probably have been normal).

SPECT: Reduced perfusion in bilateral temporoparietal areas.

Differential diagnosis

Early Alzheimer’s disease (see ‘Alzheimer’s disease’ in the ‘Dementia’ section in Chapter 2).

Amnesic syndrome (see ‘The amnesic syndrome: defining characteristics’ in the ‘Memory’ section in Chapter 1).

Depressive pseudodementia (see ‘Pseudodementia’ in the ‘Dementia’ section in Chapter 2).

Conclusions: This patient presented with features typical of early Alzheimer’s disease, notably a severe amnesic syndrome affecting episodic memory. The remainder of her cognitive function is generally well preserved, but other clues to the diagnosis are the reduced verbal fluency (especially for animals), mild anomia, and visuospatial deficits. Because of the importance of excluding a depressive pseudodementia, a psychiatric opinion should be sought if there is any hint of affective symptoms. Formal neuropsychological assessment is probably optional here if psychiatric features are absent. The early onset and family history raise the possibility of a genetic form of Alzheimer’s disease (the commonest being a presenilin 1 mutation) although the onset is typically even younger.

Note

Insight often preserved early in Alzheimer’s disease.

Clear impairment on ACE-III.

Formal neuropsychology confirmed more widespread executive–attentional and semantic deficits.

Genetic testing and counselling is indicated.

Case 3. Moderate Alzheimer’s Disease

Patient: A.B., 75-year-old retired handyman.

History from patient: Unaware of deficits, but when challenged admitted memory less good than he would expect.

History from family: Two to three years’ insidious decline in memory; now unable to retain any new information. Very repetitive. Grasp of recent events very poor, seems to ‘live in the past’. Recently having difficulty with household skills such as cooking, and with hobbies, particularly gardening. Unable to go shopping alone because of difficulty handling money. Speech rather empty, with word-finding difficulty. Preserved social skills and personality but recently apathetic with some irritability. Initially some insight, but now fairly unaware of deficits.

Past medical history: Nil.

Family history: Nil.

Physical signs: None.

Cognitive assessment

General observations: History taking and informal conversation revealed marked amnesia, inattention, and language problems.

ACE-III

1. Orientation and attention: Disoriented in time (day, month, date, and year) and details of place. Very poor performance on serial 7s.
2. Memory:

Anterograde: Name and address test: Poor learning, only 4 items even on third trial.

Recall and recognition: No spontaneous recall and recognition impaired (1/5).

Retrograde: Impaired, unable to name any famous figures.

3. Fluency: Poor, ‘P’ words 5 (scaled score = 2) and animals 4 (scaled score = 0).
4. Language:

Spontaneous speech: Hesitant, some word-finding pauses.

Naming: Impaired (6/12), errors included circumlocutions (‘thing on a ship’ for anchor) and semantic paraphasias (hippo for rhinoceros).

Repetition: Normal for single words but problems with phrases.

Comprehension: Word comprehension mildly impaired and problems with sentences.

Reading: Normal.

Writing: Short but grammatically correct sentences.

5. Visuospatial and perceptual: Unable to copy loops and cube, very poor clock drawing, and two errors on dot counting.

See Table 8.3.

Table 8.3 Mental test scores

Investigations

MRI scan: Generalized cortical atrophy with ventricular enlargement.

Differential diagnosis

Alzheimer’s disease.

Other causes of dementia.

Conclusions: The cognitive examination revealed very obvious impairment of memory, language, abstract thinking, and constructional abilities typical of moderately advanced dementia of Alzheimer’s type. In this instance, formal neuropsychological assessment is unnecessary.

Note:

Despite severity of cognitive deficits, well-preserved social behaviour and personality.

Case 4. Depressive Pseudodementia

Patient: D.A., 67-year-old retired shop assistant.

History from patient: Aware of poor memory and concentration; denied any symptoms of ‘depression’, but admitted to poor sleep with early-morning waking, low energy, and a lack of interest in the home and family.

History from family: Well until 6 months before, then rapid decline in memory as well as a change in personality, with apathy and disinterest. Poor appetite and sleep pattern. Very complaining and irritable. Preoccupied with negative thoughts.

Past medical history: ‘Nervous breakdown’ 15 years previously required hospital admission.

Family history: Mother and sister with episodes of depression.

Physical signs: None.

Cognitive assessment

General observations: Poor eye contact, monotonous voice, tendency to give up and produce ‘don’t know’ responses.

ACE-III

1. Orientation and attention: Orientation intact except date but difficulty performing serial 7s (score = 2).
2. Memory:

Anterograde: Name and address test: Slow acquisition of name and address.

Recall and recognition: Poor recall (2/7) but perfect recognition.

Retrograde: Normal.

3. Fluency: Reduced, ‘P’ words 8 (scaled score = 4) and animals fluency 10 (scaled score = 3).
4. Language:

Spontaneous speech: Normal form and content.

Naming: Perfect.

Repetition: No problems.

Comprehension: Normal.

Reading: Normal.

Writing: Normal.

5. Visuospatial and perceptual: Normal except slightly poor copy of wire cube. See Table 8.4.

Table 8.4 Mental test scores

Investigations

MRI scan: Normal.

Differential diagnosis

Depressive pseudodementia (see ‘Pseudodementia’ in the ‘Dementia’ section in Chapter 2).

Dementia, especially subcortical type (see ‘Cortical versus subcortical dementia’ in the ‘Dementia’ section in Chapter 2).

Conclusions: Clues to diagnosis in this case are the relatively acute onset; biological features of depression (sleep and appetite); the loss of interest in life; and the family history. Subsequently the patient responded well to treatment with antidepressants. Formal neuropsychological and psychiatric assessments are clearly essential in this case.

Note

Impaired attention and free recall but much better recognition memory.

Frequent ‘don’t know’ responses.

Case 5. Behavioural Variant Frontotemporal Dementia

Patient: F.M., 64-year-old self-employed builder.

History from patient: Unaware of any problems, and denied symptoms even when directly confronted.

History from family: One to two years of progressive personality change, with lack of motivation, poor judgement, erratic mood swings, lack of empathy over disabled son, and a tendency to crack inappropriate and puerile jokes. Increased appetite and craving for sweet foods. Increasing marital disharmony had led to a referral for counselling, since simple ‘bedside’ mental testing by GP failed to reveal any deficits.

Past medical history: Nil; no excess alcohol intake.

Family history: Mother developed dementia in her late 50s, died in a mental home.

Physical signs: Positive frontal release signs (pout, palmomental, and grasp) only. Sense of smell preserved, discs normal.

Cognitive assessment

General observations: Unconcerned and unaware of reasons for referral. Inappropriate suggestive comments to female staff.

ACE-III

1. Orientation and attention: Perfect in time and place. Two errors in serial subtractions/WORLD backwards (2/5).
2. Memory:

Anterograde: Name and address test: Slow acquisition but 7/7 on third trial.

Recall and recognition: Spontaneous recall only 5/7 (mildly impaired) but recognition perfect.

Retrograde: No errors.

3. Fluency: Impaired, ‘P’ words 2 (scaled score = 0) and animals 6 (scaled score = 1).
4. Language:

Spontaneous speech: Normal form and content.

Naming: No errors.

Repetition: Normal.

Comprehension: Unimpaired.

Reading: Normal.

Writing: An inappropriate (‘You’re a lovely lady’) but otherwise normal sentence.

5. Visuospatial and perceptual: Mildly disorganized clock drawing.

Additional bedside tests: Unable to interpret proverbs, poor cognitive estimates.

See Table 8.5.

Table 8.5 Mental test scores

Investigations

MRI scan: Mild medial and orbital frontal atrophy with enlargement of anterior part of lateral ventricle.

FDG-PET: Marked bi-frontal hypoperfusion.

Differential diagnosis

Causes of frontal lobe dysfunction:

Frontotemporal dementia

Subfrontal meningioma.

Sequelae of head injury.

Alcohol-related dementia.

Huntington’s disease.

Other basal ganglia degenerative disorders.

Conclusions: This is a typical presentation of progressive frontal dysfunction, which in this case turned out to be due to behavioural variant frontotemporal dementia. Formal neuropsychological assessment is mandatory, particularly including tests of social cognition, since the cognitive deficits on bedside testing are relatively slight (reduced backwards digit span, poor verbal fluency, and abstraction). Probably familial given positive family history, the most common mutation being expansion of the C9orf72 gene.

Note

History from informant most important factor.

Borderline overall score on ACE-III but very poor fluency is a tell-tale feature.

Case 6. Progressive Non-Fluent Aphasia (PNFA)

Patient: P.B., 70-year-old retired company executive.

History from patient: Five years’ gradual loss of spoken language abilities with speech distortion, leading to difficulties in public speaking and communication with friends and family. Use of telephone impossible. Also problems with written composition.

History from family: Confirmed patient history, and that non-linguistic abilities remain unaffected. Still able to play golf, drive, go shopping, and perform DIY jobs. Recently comprehension also becoming impaired.

Family history: Nil.

Past medical history: Nil.

Physical signs: None except mild orobuccal apraxia (unable to cough or click tongue to command).

Cognitive assessment

General observations: Clearly frustrated by speech output difficulty but socially appropriate.

ACE-III

1. Orientation and attention: Perfect.
2. Memory:

Anterograde: Name and address test: Impaired repetition due to speech distortion, but achieved 7/7 on final trial.

Recall and recognition: Mildly impaired (3) but much better on recognition (5/5).

Retrograde: Normal.

3. Fluency: Markedly reduced, ‘P’ words 5 (scaled score = 2) and animals 9 (scaled score = 3).
4. Language:

Spontaneous speech: Hesitant and distorted with errors and pauses. Loss of normal prosody. Very reduced overall output.

Naming: Normal but with some mild distortion of responses.

Repetition: Unable to repeat multisyllabic words but clearly aware of their meaning. Failed both proverb repetition tasks.

Comprehension: Normal single-word comprehension but failed sentence comprehension.

Reading: Unable to read irregular words (surface dyslexic).

Writing: Normal sentence construction and spelling.

5. Visuospatial and perceptual: Perfect drawing and passed perceptual tests.

See Table 8.6.

Table 8.6 Mental test scores

Investigations

MRI scan: Mild left perisylvian atrophy.

SPECT: Marked left frontotemporal hypoperfusion.

Differential diagnosis

Progressive non-fluent aphasia (see ‘Progressive non-fluent aphasia’ in the ‘Dementia’ section in Chapter 2).

Stroke, tumours, and other space-occupying lesions.

Conclusions: The presentation with a progressive loss of language output and relatively good comprehension is typical of this form of frontotemporal dementia (FTD). The preservation of practical everyday abilities, non-verbal memory, and visuospatial abilities separates this from aphasia in the context of Alzheimer’s or vascular dementia. The nature of the language deficit (i.e. impaired motor speech deficit and syntax) is distinct from that found in semantic dementia and from LPA. Formal neuropsychological evaluation required to confirm normal non-verbal and general intellectual abilities, although mild executive deficits are common in PNFA.

Note

Not only marginally impaired on ACE-III.

Naming normal in contrast to fluency and conversational problems.

Orobuccal apraxia was present.

Slightly older age of onset than other FTD syndrome patients.

Case 7. Logopenic Progressive Aphasia (LPA)

Patient: B.A., 60-year-old medical secretary.

History from patient: Three years’ gradual loss of spoken language abilities with word-finding problems, leading to difficulties communicating with friends and family. Also problems with written composition.

History from family: Confirmed patient history, and that non-linguistic abilities remain unaffected. Concentration not good. Mild degree of apathy. Able to drive, go shopping, and cook.

Family history: Nil.

Past medical history: Nil.

Physical signs: None.

Cognitive assessment

General observations: Clearly frustrated by speech output difficulty but socially appropriate.

ACE-III

1. Orientation and attention: Perfect.
2. Memory:

Anterograde: Name and address test: Impaired repetition due to phonological short-term memory problem, so scored only 3/7 on final trial.

Recall and recognition: Impaired (3) but much better on recognition (4/5).

Retrograde: Normal.

3. Fluency: Markedly reduced, ‘P’ words 5 (scaled score = 2) and animals 7 (scaled score = 2).
4. Language:

Spontaneous speech: At times fluent but word-finding pauses and occasional phonological errors.

Naming: Markedly impaired (4/12) with circumlocutions and phonological errors.

Repetition: Able to repeat multisyllabic words but failed both proverb repetition tasks.

Comprehension: Normal single word but failed sentence comprehension.

Reading: Normal.

Writing: Normal sentence construction and spelling.

5. Visuospatial and perceptual: Mild impairment with difficulty copying cube and poor clock drawing but passed perceptual tests.

See Table 8.7.

Table 8.7 Mental test scores

Investigations

MRI scan: Mild left hemispheric atrophy.

FDG-PET: Marked left temporoparietal hypometabolism.

Differential diagnosis

Progressive non-fluent aphasia (see ‘Progressive non-fluent aphasia’ in the ‘Dementia’ section in Chapter 2).

Alzheimer’s with anomia—the distinction is blurred, the predominance of the aphasia and preservation of ADLs favours LPA.

Stroke, tumours, and other space-occupying lesions.

Conclusions: The nature of the language deficit with marked anomia, phonological errors, and marked impairment of verbal short-term memory is typical and distinct from both semantic dementia and from progressive non-fluent aphasia. Note that there are subtle signs of visuospatial deficits which hints at early Alzheimer pathology. Formal neuropsychological evaluation required to confirm normal non-verbal and general intellectual abilities.

Note

Marked anomia (like semantic dementia) but good word comprehension.

Digit span reduced because of impaired verbal short-term memory.

Speech at times sounds normal (unlike progressive non-fluent aphasia).

Case 8. Semantic Dementia

Patient: J.L., 50-year-old electrician.

History from patient: Twelve-month history of ‘loss of memory for words’— by which he meant difficulty retrieving names of people, places, and things. A great 1960s music fan who could no longer remember the names of some of his favourite band members.

History from family: Twelve months or so of progressive word-finding difficulty, with more recent impairment of comprehension, especially for more unusual words. For instance, unable to order from menus because of difficulty understanding names of foods. Day-to-day event memory good, and no decline in practical abilities. Increasingly rigid behaviour and fixation about eating certain foods repeatedly.

Past medical history: Nil.

Family history: Nil.

Physical signs: No abnormality detected.

Cognitive assessment

General observations: Fluent conversational language and good autobiography. Socially appropriate.

ACE-III

1. Orientation and attention: Orientation perfect, attention no errors.
2. Memory:

Anterograde: Name and address test: Fast learning, 7/7 by third trial.

Recall and recognition: Very poor recall (1/7) but better recognition (4/5).

Retrograde: Unable to name 2 out of 4 famous people.

3. Fluency: Impaired, ‘P’ words 10 (scaled score = 4) and animals 7 (scaled score = 2).
4. Language:

Spontaneous speech: Fluent with normal syntax and phonology but some word-finding difficulty and use of substitutions (‘thingee’).

Naming: Impaired (6/12) with marked familiarity effect (i.e. able to name watch and pen but not camel, anchor, harp, barrel, accordion, or crocodile).

Repetition: No errors but unable to define the meaning of any of the words.

Comprehension: Impaired (e.g. ‘Nautical, what’s that?’).

Reading: Surface dyslexia (regularized soot, pint, and dough).

Writing: Normal.

5. Visuospatial and perceptual: Perfect performance. See Table 8.8.

Table 8.8 Mental test scores

Investigations

MRI scan: Left anterior temporal lobe atrophy.

FDG-PET: Marked asymmetrical anterior temporal hypoperfusion.

Differential diagnosis

Temporal lobe dysfunction secondary to:

Frontotemporal dementia.

Alzheimer’s disease.

Herpes simplex encephalitis.

Conclusions: The impairment in naming, verbal fluency, word comprehension, and face recognition is secondary to a breakdown in semantic memory, which in this case was due to progressive focal atrophy of the temporal lobes, better known as semantic dementia. Semantic memory impairment also occurs in moderate stages of Alzheimer’s disease, when episodic memory loss is marked and visuospatial deficits are apparent.

Note

Surface dyslexia is a consistent finding in semantic dementia.

Excellent orientation/attention and visuospatial skills.

Poor verbal memory could lead to mistaken label of Alzheimer’s disease.

Early behavioural changes typical of semantic dementia.

Case 9. Progressive Prosopagnosia and Personality Change (Right Temporal Variant of Frontotemporal Dementia)

Patient: S.E., 60-year-old retired railway worker.

History from patient: Three years’ history of progressive difficulty recognizing people, initially distant friends, more recently even fairly close friends.

History from family: Confirms patient history, and that his day-to-day (episodic) memory is very good. Also increasingly rigid and cold. Loss of libido and strange preoccupations with religious themes.

Past medical history: Nil.

Family history: Nil.

Physical signs: Nil.

Cognitive assessment

General observations: Very talkative, strange flat affect, difficulty with turn-taking in conversation.

ACE-III

1. Orientation and attention: Orientation normal for time and place. Attention normal.
2. Memory:

Anterograde: Name and address test: Able to learn within 3 trials.

Recall and recognition: Reduced (4/7) but improved on forced choice recognition (4/5).

Retrograde: Only able to name current Prime Minister (1/4).

3. Fluency: Mildly reduced, ‘P’ words 13 (scaled score = 5) and animals 10 (scaled score = 3).
4. Language:

Spontaneous speech: Normal form and content.

Naming: Within normal limits (11/12).

Repetition: Normal for words and phrases.

Comprehension: Failed two questions (2/4).

Reading: Normal.

Writing: Normal.

5. Visuospatial and perceptual: Normal drawing and perceptual abilities.

Additional bedside tests: Unable to recognize or name very famous faces (Princess Diana, Tony Blair) but also unable to provide information when given the name indicating a cross-modal semantic loss as opposed to the face-specific loss in prosopagnosia after a right temporo-occipital stroke.

See Table 8.9.

Table 8.9 Mental test scores

Investigations

MRI scan: Marked atrophy of anterior right temporal lobe.

FDG-PET: Confirmed bi-temporal hypometabolism (right > left).

Differential diagnosis

Causes of prosopagnosia (see ‘Prosopagnosia’ in the ‘Damage to Specialized Right Hemisphere Functions’ section in Chapter 3):

Right temporal variant of frontotemporal dementia.

Herpes simplex virus encephalitis.

Posterior cerebral artery territory stroke.

Carbon monoxide poisoning.

Conclusions: This man’s complaint of difficulty in face recognition (prosopagnosia) suggests right temporal lobe dysfunction. Bedside testing points to a loss of semantic memory underlying the face recognition deficit. Formal neuropsychological assessment is clearly important to clarify the deficits and in this case confirmed non-verbal memory deficits plus an agnosia for people and buildings. Also displayed the characteristic changes in social conduct and affect seen in this syndrome.

Note

Right temporal lobe function is difficult to assess at the bedside.

Normal constructional abilities (which depend on parietal lobe function), despite severe prosopagnosia.

Right temporal lobe damage is associated with personality changes.

Case 10. Corticobasal Degeneration

Patient: C.S., 60-year-old hairdresser.

History from patient: Twelve months’ clumsiness, difficulty manipulating scissors and doing other fine hand tasks. Problems writing and spelling. Slight hesitancy of speech and mild slowing of gait. No falls.

History from family: Confirmed patient’s history, in addition some ‘mental slowing’, less able to cope with complex situations.

Past medical history: Nil, particularly no vascular risk factor.

Family history: Nil.

Physical signs: Mildly hypomimic, increased tone asymmetric (right > left) with rigidity and cog-wheeling. Bilateral grasping and positive pout response. Marked apraxia (see ‘Additional bedside tests’ later in this case). Gait slowed for age with reduced right arm swing.

Cognitive assessment

General observations: Early speech output disorder, normal affect, and socially appropriate.

ACE-III

1. Orientation and attention: Normal for time, one error on place.
2. Memory:

Anterograde: Name and address test: Impaired learning (5/7 on third trial).

Recall and recognition: Reduced recall (3/7) improved with multiple choice (3/5).

Retrograde: Two errors.

3. Fluency: Reduced, ‘P’ words 6 (scaled score = 3) and animals 8 (scaled score = 1).
4. Language:

Spontaneous speech: Laboured, hypophonic with word-finding pauses.

Naming: Mildly impaired (8/10).

Repetition: Unable to repeat multisyllabic words or phrases.

Comprehension: Normal for words but problem with sentence comprehension.

Reading: Normal.

Writing: Able to write sentence but letters poorly formed and spelling errors.

5. Visuospatial and perceptual: Very impaired, unable to copy loops or cube. Clock face poorly organized (3/5). Also poor on letter identification and dot counting.

Additional bedside tests: Markedly apraxic, unable to copy meaningless gestures especially with right hand. Better at meaningful gestures and improved with imitation (ideomotor). Also early orobuccal apraxia. No overt alien-hand phenomena but uncontrollable tendency to approach the examiner’s hand during testing.

See Table 8.10.

Table 8.10 Mental test scores

Investigations

MRI scan: Mild frontoparietal atrophy (left > right).

SPECT: Marked hypoperfusion bilateral frontal and parietal regions.

Differential diagnosis

Corticobasal degeneration.

Progressive supranuclear palsy.

Dementia with Lewy bodies.

Vascular dementia.

Conclusions: The combination of asymmetric parkinsonism, apraxia, and cognitive deficits is typical of CBD. Patients can present with prominent non-fluent aphasia or personality change, or both (see ‘Frontotemporal dementia’ in the ‘Dementia’ section in Chapter 2). MRI may be fairly unremarkable, progression often rapid.

Note

Mixture of extrapyramidal and focal cortical features.

Constructional difficulties could be partially due to apraxia but also impaired perceptual abilities.

Problems with writing and mild phonological deficits are typical.

Copying meaningless gestures typically much worse than meaningful.

Case 11. Progressive Supranuclear Palsy (PSP)

Patient: R.J., 75-year-old retired teacher.

History from patient: Two years of unsteady gait with a number of unprovoked falls. General slowing. Difficulty reading and going downstairs.

History from family: Confirmed physical history but in addition increasing apathy and lack of spontaneous conversation. Some forgetfulness. No other personality change.

Past medical history: Nil.

Family history: Nil.

Physical signs: Staring facies with slight head retraction. Restricted eye movements especially in vertical plane but preserved oculocephalic reflexes. Nuchal rigidity. Mild bradykinesia and increase limb tone. Slow gait with very deliberate turning. Mild dysarthria but no other bulbar signs.

Cognitive assessment

General observations: Reduced conversation. Slow to respond to questions.

ACE-III

1. Orientation and attention: Fully orientated but slow on serial 7s with two mistakes.
2. Memory:

Anterograde: Name and address test: Slow acquisition but learnt all elements by third trial (7/7).

Recall and recognition: Mildly reduced recall (4/7) but perfect recognition (5/5).

Retrograde: Normal.

3. Fluency: Markedly reduced, ‘P’ words 5 (scaled score = 2) and animals 7 (scaled score = 2).
4. Language:

Spontaneous speech: Hypophonic, laconic, and adynamic with short, correct sentences.

Naming: All correct (12/12).

Repetition: Able to repeat words, one error on phrases.

Comprehension: Normal.

Reading: Normal.

Writing: Correct but minimalist sentence and small poorly executed writing.

5. Visuospatial and perceptual: Shaky copies but no errors on perceptual tasks.

See Table 8.11.

Table 8.11 Mental test scores

Investigations

MRI scan: Normal.

Differential diagnosis

PSP.

Multiple system atrophy.

Corticobasal degeneration.

Dementia with Lewy bodies.

Conclusions: The combination of history and eye signs is classic for PSP (see ‘Progressive supranuclear palsy’ in the ‘Dementia’ section in Chapter 2). Some patients have predominantly cognitive presentations with apathy, dysexecutive symptoms, or so-called dynamic aphasia (severely reduced output but no phonological, syntactic semantic deficits).

Note

Marked reduced fluency, especially ‘P’ words.

Case 12. Dementia with Lewy Bodies

Patient: H.D., 70-year-old retired postman.

History from patient: Two years of ‘poor memory’ with difficulty concentrating and forgetfulness. Some mood disturbance and restless sleep. Occasional fleeting visual hallucinations—ghostlike figures induced by flickering lights and people in the garden. Some day-to-day variation but no periods of gross confusion.

History from family: Confirmed forgetfulness, marked ageing with mental slowing. Also physically slowed.

Past medical history: Nil.

Family history: Nil.

Physical signs: Mildly hypomimic, some bradykinesia and rigidity but no tremor. Gait slowed. Positive frontal release signs.

Cognitive assessment

General observations: Lucid, mildly parkinsonian speech, some word-finding pauses.

ACE-III

1. Orientation and attention: Poorly orientated in time (2/5) and unable to perform serial 7s.
2. Memory:

Anterograde: Name and address test: Poor acquisition over three trials, final score 5/7.

Recall and recognition: Impaired (2/7) but improved on recognition (4/5).

Retrograde: Normal.

3. Fluency: Markedly reduced, ‘P’ words 5 (scaled score = 2) and animals 8 (scaled score = 2).
4. Language:

Spontaneous speech: Hypophonic with some pauses.

Naming: Mildly impaired (9/12).

Repetition: Unable to repeat phrases.

Comprehension: Normal.

Reading: Normal.

Writing: Micrographic but grammatically correct.

5. Visuospatial and perceptual: Markedly impaired. Unable to copy loops and poor clock drawing (3/5). Also failed on fragmented letters (2/4).

See Table 8.12.

Table 8.12 Mental test scores

Investigations

CT scan: Revealed mild cerebral atrophy.

SPECT: Marked bi-parietal and occipital hypoperfusion.

Differential diagnosis

Dementia with Lewy bodies.

Vascular dementia.

Alzheimer’s disease.

Conclusions: The combination of mood disturbance with cognitive slowing, forgetfulness (but not the striking amnesia of early Alzheimer’s disease), fleeting hallucinations, visuoperceptual disturbance, and parkinsonism is classic. Some patients may not show motor signs at presentation. Cognitive assessment typically reveals marked deficits in attention and visuospatial/perceptual problems (see ‘Dementia with Lewy Bodies’ in the ‘Dementia’ section in Chapter 2).

Note

Combination of attentional, memory, and perceptual deficits.

Sleep disruption and acting out of dreams during REM (rapid eye movement) phase is very common in dementia with Lewy bodies.

Case 13. Visual Variant of Alzheimer’s Disease (Posterior Cortical Atrophy)

Patient: P.G., 70-year-old retired technician.

History from patient: Two years’ ‘loss of vision’ with no ophthalmological cause. Unable to locate objects without mis-reaching. Difficulty driving with several minor accidents. Disorientated in unfamiliar environments. Problems reading. No memory or language complaints.

History from family: Family confirmed symptoms and confirmed absence of memory difficulty. No personality change. Some mood disturbance secondary to visual disabilities.

Past medical history: Nil.

Family history: Nil.

Physical signs: Visual fields full but unable to locate and grasp finger of examiner. Acuity apparently very poor using Snellen chart because of problems locating letters but acuity for small print normal.

Cognitive assessment

General observations: Normal affect and memory of interview.

ACE-III

1. Orientation and attention: Normal.
2. Memory:

Anterograde: Name and address test: Good learning.

Recall and recognition: Good recall after delay (5/7).

Retrograde: Normal.

3. Fluency: Mildly impaired ‘P’ words 12 (scaled score = 5) and animals 15 (scaled score = 5).
4. Language:

Spontaneous speech: Normal form and content.

Naming: Severe difficulty locating target pictures but able to name most if displayed singly by covering others. Two visual-type naming errors (10/12).

Repetition: Normal.

Comprehension: Normal.

Reading and writing: Normal.

5. Visuospatial and perceptual: Markedly impaired, unable to copy overlapping loops or cube. On clock face located numbers outside of circle. Unable to count dots and two errors on fragmented letters.

See Table 8.13.

Table 8.13 Mental test scores

Investigations

MRI scan: Occipito-parietal atrophy.

SPECT: Marked hypoperfusion of parietotemporal and occipital cortices.

Differential diagnosis

Posterior cortical atrophy (visual variant Alzheimer’s Disease).

Corticobasal degeneration.

Dementia with Lewy bodies.

Posterior watershed infarction.

Post-CO (carbon monoxide) poisoning.

Creutzfeldt–Jakob disease (CJD).

Conclusions: The history of gradual onset of Balint’s syndrome is very characteristic of PCA (see ‘Atypical Alzheimer’s disease’ in the ‘Dementia’ section in Chapter 2). Most patients have consulted opticians and ophthalmologists. Memory is typically well preserved. The absence of apraxia or parkinsonism differentiates this from corticobasal degeneration. CJD may start in this way but is more rapidly progressive. MRI may be normal. Neuropsychological evaluation is required. This patient progressed to a state of severe disability but insight and memory remained intact.

Note

Non-specific visual complaints are typical and initially lead to optician and ophthalmological consultations.

Memory is usually well preserved.

Patients become very disabled.

Case 14. Huntington’s Disease

Patient: B.Y., 50-year-old accountant.

History from patient: Unaware of any cognitive deficits; but admitted to excessive fidgetiness for several years.

History from family: Five years’ insidious change in personality, with lack of drive and motivation, originally diagnosed as depression. Problems coping at work and disorganized personal finances. Decline in personal care and appearance. Twitchy facial and hand movements noted about the same time by family members.

Past medical history: Nil.

Family history: Father died in his 40s of pneumonia, spent some time in psychiatric care with ‘nervous depression’. Paternal grandmother had jerky movements. No explicit diagnosis of Huntington’s disease.

Physical signs: Prominent choreiform movements of face, head, and arms. Unsteady reeling gait, with typical finger-flicking. Unable to maintain tongue protrusion. Frontal release signs (pout, palmomentals) present.

Cognitive assessment

General observations: Appeared unconcerned and giggly. Easily distracted.

ACE-III

1. Orientation and attention: Orientation largely intact. Attention very poor, unable to do serial 7s.
2. Memory:

Anterograde: Name and address test: Mildly impaired learning, 6/7 after three trials.

Recall and recognition: Impaired free recall (4/7) but much better recognition (5/5).

Retrograde: Intact.

3. Fluency: Markedly reduced, ‘P’ words 5 (scaled score = 2) and animals 9 (scaled score = 3).
4. Language:

Spontaneous speech: Dysarthric but no aphasic errors.

Naming: Normal (12/12).

Repetition: Mild dysarthria but no phonological errors when repeating words. Failed phrase repetition.

Comprehension: Normal.

Reading: Normal.

Writing: Normal.

5. Visuospatial and perceptual: Impaired copy of overlapping loops, cube, and clock (3/5) but normal on perceptual tests.

See Table 8.14.

Table 8.14 Mental test scores

Investigations

MRI scan: Normal.

Differential diagnosis

Huntington’s disease (see ‘Huntington’s disease’ in the Dementia’ section in Chapter 2).

Wilson’s disease.

Cerebral vasculitis, especially systematic lupus erythematosus (SLE).

Other very rare causes of chorea and dementia, such as acanthocytosis.

Conclusions: Although the patient presented with chorea and is unaware of any cognitive deficits, bedside testing shows features suggestive of frontostriatal dysfunction. Initially the family history was said to be negative, but further investigation revealed ‘tell-tale’ features of Huntington’s disease (i.e. a family history of psychiatric illness and involuntary movement disorder). Formal neuropsychological and clinical genetic referral is essential.

Note

Cognitive abnormalities relatively subtle; mild attentional deficit, problems with executive function, borderline memory performance, and poor visuospatial ability.

MRI scan may show caudate atrophy, but usually only in more advanced cases.

Case 15. Amnestic Stroke: Bilateral Thalamic Infarction

Patient: P.S., 65-year-old retired garage proprietor.

History from patient: Vague recall of hospital admission, but no insight into persistent memory disorder or change in behaviour. Claims to be on active service in the navy and currently at home on shore leave.

History from family: Six months prior to assessment admitted to hospital in coma after being found in bed by wife, unrousable. Rapidly regained consciousness, but severely confused and disorientated. Complex and persistent confabulatory state; believes that it is wartime and that he is on active service. Virtually no recall of past 40 years. Unable to lay down new memories. Complete lack of motivation and drive; previously very active, now watches TV all day.

Past medical history: Hypertension and smoking. No prior cerebrovascular events. Very modest alcohol intake.

Family history: Nil of note.

Physical signs: Disordered eye movements, with paralysis of voluntary vertical gaze.

Cognitive assessment

General observations: Apathetic, extremely poor memory, and tendency to confabulate.

ACE-III

1. Orientation and attention: Severely disorientated in time and place.
2. Memory:

Anterograde: Name and address test: Able to register and learn address (7/7).

Recall and recognition: No recall (0/7) and chance recognition performance (0/5).

Retrograde: Failed all items.

3. Fluency: Reduced, ‘P’ words 7 (scaled score = 3) and animals 10 (scaled score = 3) with perseverations.
4. Language:

Spontaneous speech: Rather flat but normal form and content.

Naming: Normal (12/12).

Repetition: No errors.

Comprehension: Normal.

Reading: No deficits.

Writing: No deficits.

5. Visuospatial and perceptual: Careless reproduction of cube and clock drawing.

See Table 8.15.

Table 8.15 Mental test scores

Investigations

MRI: Symmetrical bilateral thalamic infarcts involving dorsomedial nuclear group.

Differential diagnosis

Acute onset of amnesic syndrome (see ‘The amnesic syndrome: defining characteristics’ in the ‘Memory’ section in Chapter 1), arising from:

Strokes, either bilateral thalamic or medial temporal.

Wernicke–Korsakoff’s syndrome (vitamin B₁ deficiency), usually associated with alcoholism.

Anoxic hippocampal damage following cardiac arrest, etc.

Herpes simplex virus encephalitis.

Closed head injury.

Conclusions: The presentation with coma, evolving into an amnesic state with profound anterograde and retrograde memory deficit, is typical of bilateral thalamic infarction. CT scanning is often normal immediately post-stroke, but a subsequent MRI demonstrated the classic lesion. All the vital memory structures are supplied from the posterior cerebral artery. In a high proportion of normal subjects both medial thalamic areas receive a supply from a single penetrating artery. Formal neuropsychological assessment is clearly desirable in this case.

Note

Preservation of short-term (working) memory.

Evidence of frontal dysfunction due to secondary frontal deafferentation.

Eye movement disorder typical of this syndrome.

Case 16. Transient Epileptic Amnesia (TEA)

Patient: L.C., 65-year-old writer.

History from patient: Presenting with recurrent brief (10–15-minute) episodes of ‘confusion’ especially just after waking up. Unable to recall anything about the attacks. Also poor recall of recent family events and holidays. For instance, she had spent several weeks in Crete 1 year before with her husband, an archaeologist, but has no memory of the trip. Previously diagnosed as ‘psychogenic’.

History from family: Husband described sudden onset of amnesia with repetitive questioning and disorientation. No epileptic features (automatisms). Also confirmed autobiographical amnesia.

Past medical history: Nil.

Family history: Nil.

Physical signs: Normal.

Cognitive assessment

General observations: Completely normal on informal assessment.

ACE-III

1. Orientation and attention: Normal.
2. Memory:

Anterograde: Name and address test: Good learning, perfect on third trial.

Recall and recognition: Normal.

Retrograde: All correct.

3. Fluency: Excellent performance, ‘P’ words 18 (scaled score = 7) and animals 22 (scaled score = 7).
4. Language:

Spontaneous speech: Fluent, non-anomic, normal form.

Naming: Perfect.

Repetition: Normal.

Comprehension: Normal.

Reading: Normal.

Writing: Normal.

5. Visuospatial and perceptual: No deficits. See Table 8.16.

Table 8.16 Mental test scores

Investigations

MRI scan: Normal.

Differential diagnosis

TEA.

Transient global amnesia (TGA).

Conclusions: The history is very characteristic of TEA with brief recurrent episodes (see ‘Transient amnesia’ in the ‘Memory’ section of Chapter 1). Although performance on standard neuropsychological tests of memory is normal, patients show accelerated loss of new information over weeks plus gaps in their autobiographical memory. The diagnosis should be confirmed by routine and, if necessary, sleep EEG.

Note

Recurrence is rare in TGA.

TEA episodes are brief.

Patients have accelerated forgetting and autobiographical memory loss.