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Movement Disorders 2 Flashcards

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1
Q

What is PSP otherwise known as?

A

Steele-Richardson-Olszewski syndrome

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2
Q

What is the pathological protein in PSP and CBD?

A

Tau

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3
Q

What gene mutation is occasionally associated with PSP?

A

MAPT gene mutation

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4
Q

What is the typical constellation (5 Sx) of eye disorders in PSP?

A

Restricted and slow eye movements; often starting with downgaze before becoming general vertical impairment
Visual blurring
Eyelid apraxia
Inability to maintain eye contact during conversation
‘Surprised’ look - head movement to change gaze

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5
Q

What non-motor signs are suggestive of PSP?

A

Behaviour change - almost HD like
Frontal impairment and memory problems
Mood change, apathy

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6
Q

Give some features more suggestive of PSP than PD?

A 
Early gait and balance disturbance with early falls (particularly backwards)
More rapid progression
Speech and swallowing problems earlier in PSP (growling voice)
Eye abnormalities in PSP 
Tremor unusual in PSP 
Neck stiffness and dystonia in PSP 
Minimal/brief dopa responsiveness in PSP
PSP often symmetrical ish onset
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7
Q

What is the pathological protein in MSA and what histopathological feature does this result in?

A

Alpha synuclein

Aggregates particularly in oligodendrocytes, resulting in glial cytoplasmic inclusions (GCIs)

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8
Q

What 3 pathways/areas are affected to cause the symptom combinations in MSA?

A 
Olivopontocerebellar pathway (cerebellar)
Nigrostriatal pathway (parkinsonism)
Preganglionic ANS lesions (autonomic)
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9
Q

What type of tremor is more suggestive of MSA than PD?

A

Intention - not at rest

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10
Q

What one symptom area, if present early, is more suggestive of MSA than PSP?

A

Autonomic disturbance - BP/Orthostatic hypotension particularly

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11
Q

What is the only Parkinsonian syndrome classically associated with upgoing plantars?

A

MSA

But also CBD

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12
Q

In which Parkinson mimic is antecolis most common?

A

MSA

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13
Q

4 signs of MSA on imaging?

A

Hot cross bun sign in midbrain
Small pons
Cerebellar wasting with middle cerebellar peduncle signal change
Putaminal rim

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14
Q

What histopathological bodies are suggestive of CBD?

A

Pick cells - tau positive neurons in the absence of argyrophillic Pick bodies

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15
Q

Features strongly suggestive of CBD?

A 
Alien hand (usually L) - marked asymmetrical apraxia
Astereognosis, simultagnosia, dysgraphaesthesia
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16
Q

Which Parkinsonism may feature stimulus sensitive limb myoclonus?

A

CBD

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17
Q

Does the presence or absence of autonomic disturbance suggest CBD?

A

Absence

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18
Q

Which Parkinsonism features marked and often intense limb muscle wasting?

A

CBD

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19
Q

Which cognitive domain is often affected early in CBD?

A

Speech and language - dysphasia

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20
Q

What genetic mutation causes paroxysmal kinesigenic dyskinesia?

A

PRRT2

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21
Q

What movements may be present in paroxysmal kinesigenic dyskinesia?

A

Chorea, dystonia or even ballism

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22
Q

What are the 3 types of paroxysmal dyskinesia?

A

Paroxysmal kinesigenic dyskinesia
Paroxysmal non-kinesigenic dyskinesia
Paroxysmal exercise induced dyskinesia

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23
Q

How long can attacks of paroxysmal non-kinesigenic dyskinesia last?

A

Hours-days

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24
Q

What may precede an attack of paroxysmal kinesigenic dyskinesia?

A

An ‘aura’

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25
Q

What is the typical movement disorder seen in paroxysmal exercise induced dyskinesia?

A

Bilateral lower limb dystonia for minutes - hours following 10-15 mins exercise

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26
Q

Which of the paroxysmal dyskinesias often features an AD inheritance pattern?

A

Paroxysmal non-kinesigenic dyskinesia

27
Q

What gene mutation causes chorea-acanthocytosis, how is it inherited and what protein does it code for?

A

VPS13A gene for chorein protein

AR inheritance

28
Q

What disease does the VSP13A gene mutation cause?

A

Chorea acanthocytosis

29
Q

Which neuroacanthocytosis typically has the latest onset?

A

McLeod syndrome - 40-60

30
Q

Which is the XL inherited neuroacanthocytosis?

A

McLeod syndrome

31
Q

What is the gene mutation and affected protein in McLeod syndrome?

A

XK gene and Kx antigen

32
Q

What gene mutation is associated with HDL2 and how is it inherited?

A

JPH3 gene, AD inheritance

33
Q

Which neuroacanthocytosis usually presents under 20?

A

PKAN

34
Q

At what age does PKAN usually present?

A

Under 20

35
Q

What is the affected gene in PKAN and how is it inherited?

A

PANK2 gene

AR inheritance

36
Q

Which of the two neuroacanthocytoses most commonly feature Acanthocytosis?

A

Chorea-acanthocytosis and McLeod syndrome

37
Q

Which neuroacanthocytosis can commonly feature tics and self-mutilation, as well as Parkinsonism?

A

Chorea acanthocytosis

38
Q

What are the characteristic blood findings of McLeod syndrome?

A

Acanthocytosis
Absent Kx red cell antigen
Weak expression of kell blood group antigens

39
Q

What is the triplet repeat affected in HDL2?

A

CTG

40
Q

What is the most common NBIA?

A

PKAN

41
Q

What visual symptoms are characteristic of PKAN?

A

Peripheral visual loss
Progressive night blindness
Retinopathy

42
Q

Which neuroacanthocytosis presents earliest with dystonia and spasticity, gait ataxia and visual symptoms?

A

PKAN

43
Q

What does the presence of seizures in a suspected HD case suggest the possibility of?

A

Neuroacanthocytosis

44
Q

What is the most common genetic cause of dopa responsive dystonia? How is this inherited?

A

GCH1 gene

AD inheritance

45
Q

What disease might GCH1 gene mutation cause?

A

Dopa responsive dystonia

46
Q

What are the 3 most common genetic causes of dopa responsive dystonia?

A

GCH1
TH (tyrosine hydroxylase)
SPR

47
Q

What does GCH1 code for and how does this relate to its pathophysiology?

A

Codes for GTP-cyclohydrolase
This is involved in early steps of tetrahydrobiopterin (BH4) synthesis
BH4 is involved in the synthesis of dopamine and serotonin
So deficiency of GCH1 causes DA and 5-HT def

48
Q

What does SPR code for and how does this relate to its pathophysiology?

A

Codes for sepiapterin reductase, which is involved in the last step of BH4 production (-> DA, 5HT)

49
Q

What does tyrosine hydroxylase do?

A

Helps convert tyrosine to dopamine

50
Q

What is TH deficiency DRD also known as and how does it differ from the other 2 types?

A

Segawa syndrome

Doesn’t feature the sleep and mood disturbances seen in the others

51
Q

What is Segawa syndrome?

A

TH-DRD

52
Q

How and when does DRD often present?

A

Around age 6; initially clubfoot development, lower limb dystonia
Progressing to upper limb dystonia by adolescence and whole body if untreated
Sleep and mood Sx if GCH1/SPR

53
Q

How does DRD progress over the long term?

A

Parkinsonism; movements worsen over time but stabilise around age 30
Hyperreflexia in LLs

54
Q

How do Sx vary through the day in DRD?

A

Vary diurnally - worse late in day and improve in morning after sleep

55
Q

What might happen to eyes in DRD?

A

Upwards eye rolling

56
Q

If DRD presents in adulthood, how does its presentation differ compare to childhood?

A

Slowly progressive parkinsonism -> dystonia with no diurnal variation

57
Q

What 2 diseases does severe TH deficiency cause?

A

Infantile Parkinsonism

Progressive infantile encephalopathy

58
Q

Ix for suspected DRD?

A

Genetics for GCH1 SPR and TH
LP for biopterin and neopterin levels
Phenylalanine loading test
MRI for ddx and PET for normal DA uptake

59
Q

6 major differentials for DRD?

A 
Leigh disease
GM2 gangliosidosis
PKU
PKAN
Wilson's disease 
Juvenile HD
60
Q

What does LP tell you when investigating for DRD?

A

Low biopterin normal neopterin suggests early onset Parkinsonism
Low biopterin and low neopterin suggests GCH1 deficiency
Normal biopterin and neopterin suggests TH deficiency

61
Q

What does phenylalanine loading test show for DRD?

A

Reduced conversion of phenylalanine to tyrosine (which uses BH4 as a cofactor)

62
Q

Why is DRD dopa responsive?

A

Tyrosine is shuttled to L dopa via TH which uses BH4 as a cofactor
So bypasses this

63
Q

What is a Holmes tremor?

A

Wing beating UL tremor classically due to cerebellar damage

Combination of rest, action and postural tremor worsened by posture and movement

64
Q

What 2 components suggests spastic rigidity?

A

Clasp knife - stretch and sudden give way

Gegenhalten - opposing voluntary resistance

Brain (22 decks)

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