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Movement Disorders 2 Flashcards

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
What is the typical movement disorder seen in paroxysmal exercise induced dyskinesia?
Bilateral lower limb dystonia for minutes - hours following 10-15 mins exercise
26
Which of the paroxysmal dyskinesias often features an AD inheritance pattern?
Paroxysmal non-kinesigenic dyskinesia
27
What gene mutation causes chorea-acanthocytosis, how is it inherited and what protein does it code for?
VPS13A gene for chorein protein | AR inheritance
28
What disease does the VSP13A gene mutation cause?
Chorea acanthocytosis
29
Which neuroacanthocytosis typically has the latest onset?
McLeod syndrome - 40-60
30
Which is the XL inherited neuroacanthocytosis?
McLeod syndrome
31
What is the gene mutation and affected protein in McLeod syndrome?
XK gene and Kx antigen
32
What gene mutation is associated with HDL2 and how is it inherited?
JPH3 gene, AD inheritance
33
Which neuroacanthocytosis usually presents under 20?
PKAN
34
At what age does PKAN usually present?
Under 20
35
What is the affected gene in PKAN and how is it inherited?
PANK2 gene | AR inheritance
36
Which of the two neuroacanthocytoses most commonly feature Acanthocytosis?
Chorea-acanthocytosis and McLeod syndrome
37
Which neuroacanthocytosis can commonly feature tics and self-mutilation, as well as Parkinsonism?
Chorea acanthocytosis
38
What are the characteristic blood findings of McLeod syndrome?
Acanthocytosis Absent Kx red cell antigen Weak expression of kell blood group antigens
39
What is the triplet repeat affected in HDL2?
CTG
40
What is the most common NBIA?
PKAN
41
What visual symptoms are characteristic of PKAN?
Peripheral visual loss Progressive night blindness Retinopathy
42
Which neuroacanthocytosis presents earliest with dystonia and spasticity, gait ataxia and visual symptoms?
PKAN
43
What does the presence of seizures in a suspected HD case suggest the possibility of?
Neuroacanthocytosis
44
What is the most common genetic cause of dopa responsive dystonia? How is this inherited?
GCH1 gene | AD inheritance
45
What disease might GCH1 gene mutation cause?
Dopa responsive dystonia
46
What are the 3 most common genetic causes of dopa responsive dystonia?
GCH1 TH (tyrosine hydroxylase) SPR
47
What does GCH1 code for and how does this relate to its pathophysiology?
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
What does SPR code for and how does this relate to its pathophysiology?
Codes for sepiapterin reductase, which is involved in the last step of BH4 production (-> DA, 5HT)
49
What does tyrosine hydroxylase do?
Helps convert tyrosine to dopamine
50
What is TH deficiency DRD also known as and how does it differ from the other 2 types?
Segawa syndrome | Doesn't feature the sleep and mood disturbances seen in the others
51
What is Segawa syndrome?
TH-DRD
52
How and when does DRD often present?
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
How does DRD progress over the long term?
Parkinsonism; movements worsen over time but stabilise around age 30 Hyperreflexia in LLs
54
How do Sx vary through the day in DRD?
Vary diurnally - worse late in day and improve in morning after sleep
55
What might happen to eyes in DRD?
Upwards eye rolling
56
If DRD presents in adulthood, how does its presentation differ compare to childhood?
Slowly progressive parkinsonism -> dystonia with no diurnal variation
57
What 2 diseases does severe TH deficiency cause?
Infantile Parkinsonism | Progressive infantile encephalopathy
58
Ix for suspected DRD?
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
6 major differentials for DRD?
``` Leigh disease GM2 gangliosidosis PKU PKAN Wilson's disease Juvenile HD ```
60
What does LP tell you when investigating for DRD?
Low biopterin normal neopterin suggests early onset Parkinsonism Low biopterin and low neopterin suggests GCH1 deficiency Normal biopterin and neopterin suggests TH deficiency
61
What does phenylalanine loading test show for DRD?
Reduced conversion of phenylalanine to tyrosine (which uses BH4 as a cofactor)
62
Why is DRD dopa responsive?
Tyrosine is shuttled to L dopa via TH which uses BH4 as a cofactor So bypasses this
63
What is a Holmes tremor?
Wing beating UL tremor classically due to cerebellar damage | Combination of rest, action and postural tremor worsened by posture and movement
64
What 2 components suggests spastic rigidity?
Clasp knife - stretch and sudden give way | Gegenhalten - opposing voluntary resistance

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