Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

Brain > Movement Disorders 1 > Flashcards

Movement Disorders 1 Flashcards

1
Q

2 medications associated with chorea?

A

OCP

Dopamine agonists

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

2 toxic causes of chorea?

A

Alcohol

Carbon monoxide poisoning

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

2 metabolic disturbances associated with causing chorea?

A

Hypocalcaemia

Hyperthyroidism

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

What is the genetic basis of Huntington’s disease?

A

Prolonged CAG triplet repeat in the huntingtin gene, found on chromosome 4

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

Where is the major pathology in Huntington’s Disease?

A

The striatum (caudate nucleus and putamen), in turn affecting corticostriatal projections

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

What reflexes are present in Huntington’s Disease?

A

Primitive reflexes - pout, grasp, palmomental

Extensor plantars

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

What MRI sign may be present in Huntington’s disease?

A

Increased T2 signal in caudate nucleus

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

What is an unequivocally normal CAG triplet repeat length?

A

Less than 26 repeats

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

What is an unequivocally abnormal CAG triplet repeat length?

A

Over 40

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

What do intermediate CAG triplet repeat lengths signify (26-40)?

A

Reduced penetrance

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

What might a huge CAG triplet repeat length result in?

A

Juvenile onset/Westphal variant HD - onset less than 20 with a more pronounced akinetic-rigid presentation

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

What is interesting about the inheritance of Westphal HD?

A

Typically paternally inherited

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

4 medications of use to treat chorea?

A

Tetrabenzene
Phenothiazones e.g. Risperidone
Benzodiazepines
Haloperidol

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

What is Sydenham’s chorea?

A

Post GAS (strep pneumoniae) infection, like a subacute rheumatic fever (weeks to months after primary infection)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

What is the pathophysiology behind Sydenham’s chorea?

A

Necrotising arteritis in thalamus, caudate nucleus and putamen

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

Can Sydenham’s chorea recur? When?

A

Yes - during pregnancy or occasionally intercurrent infection

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

At what stage of pregnancy is chorea gravidarum most likely to occur?

A

First trimester

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

What comprises the pyramidal system?

A

Motor cortex

Corticospinal columns

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

What comprises the Extrapyramidal system?

A

Paired subcortical masses/basal ganglia - caudate nucleus, putamen, globus pallidus, subthalamic nuclei and substantia nigra

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

What part of the brain projects information between the basal ganglia and the motor cortex?

A

Thalamus

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

What cells are reduced in number in the substantia nigra pars compacta in PD?

A

Neuromelanin cells

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

What dopaminergic receptor changes occur in striatal cell membranes in PD?

A

Reduced D1 and D2 receptor expression

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

What 2 Sx may precede the movement disorder in PD?

A

Constipation

Anosmia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

Describe the typical Parkinsonian tremor?

A

Coarse, slow (4-7Hz) resting tremor
Initially unilateral, often in hands, before spreading to all 4 limbs later
Improves with movement, worse with stress
Disappears when asleep

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
Q

Where is the rigidity prominent in PD (in terms of affected muscle groups)?

A

Flexors - arms, legs, trunk, neck

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
26
Q

What eye signs may occur in PD?

A

Loss of ocular convergence

Loss of upward gaze

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
27
Q

What autonomic symptoms may occur in PD?

A

Postural hypotension
Constipation
Seborrhoea

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
28
Q

Do sleep problems occur in Parkinson’s?

A

They can do - REM sleep behavioural disorders

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
29
Q

What is the role of SPECT/DAT D2 receptor imaging in differentiating PD from PD mimics?

A

Normal scan in PD or normal phenotype

Abnormal in PD mimics

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
30
Q

What is the role of FP-CIT SPECT in differentiating between PD, mimics and non-PD?

A

Normal in non-PD

Abnormal in PD and its mimics

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
31
Q

Give 6 PD mimics?

A 
Multiple systems atrophy (MSA)
Progressive supranuclear palsy PSP
Vascular Parkinsonism
Cortico-basal ganglionic degeneration
Wilson's disease
Drug induced Parkinsonism
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
32
Q

3 types of MSA?

A

MSA-A(utonomic) - bladder/bowel, postural hypotension, REM sleep disturbances etc. Most prominent
MSA-P(arkinsonism) - Extrapyramidal symptoms most prominent
MSA-C(erebellar) - ataxia, bilateral UMNL signs, cerebellar signs

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
33
Q

Eye Sx of PSP?

A

SN gaze palsy - downward eye movement initially impaired, followed by all other voluntary eye movements
Lid retraction common

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
34
Q

Non-eye Sx of PSP?

A 
Extrapyramidal dysfunction 
Axial/truncal dystonia
UMNL signs
Dementia
Reduced response to L-Dopa
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
35
Q

What about the distribution of Sx may suggest vascular Parkinsonism?

A

Predominantly lower limbs affected

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
36
Q

Sx of CBD?

A 
Asymmetric akinetic-rigid syndrome
Marked dyspraxia
Myoclonus 
Dementia
Alien hand phenomena relatively common
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
37
Q

What is dystonia?

A

Sustained abnormal posturing due to contraction of large muscle groups

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
38
Q

What is cervical dystonia, or spasmodic torticolis?

A

Primary focal dystonia of sternocleidomastoid

Causes unilateral head deviation to face opposite side of affected dystonic SCM

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
39
Q

What is geste antagoniste?

A

Touching the unaffected side of the chin of a torticolis patient may return head back to normal

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
40
Q

How is torticolis managed?

A

Botox injections into affected SCM

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
41
Q

What is Meige’s syndrome?

A

Cervical dystonia + oromandibular dystonia; blepharospasm and mouth/tongue/jaw dystonia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
42
Q

What is dopamine-responsive dystonia?

A

Childhood-onset dystonia that affects the legs only

Responds to L-Dopa long term

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
43
Q

What drug class commonly causes acute dystonic reactions? How do you manage them?

A

Phenothiazines e.g. Haloperidol, metaclopramide

Give Anticholinergics e.g. Procyclodine

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
44
Q

Why does tardive dyskinesia occur?

A

Long term neuroleptic treatment leads to dopamine depletion and subsequent development of abnormal supersensitive DA receptors

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
45
Q

How does tardive dyskinesia often manifest?

A

Orofacial dyskinesia

Choreoathetoid limb movements

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
46
Q

3 causes of athetosis?

A

Hypoxic brain damage/cerebral palsy
Kernicterus
Metabolic storage disorders

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
47
Q

Relative to the side of the affected subthalamic nucleus or connections, where does Hemiballismus occur?

A

Contralateral to the affected side

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
48
Q

Most common causes of Hemiballismus?

A

POCS vascular disease
MS
DM - HHS

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
49
Q

What motor GCS score does decorticate posturing represent?

A

3

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
50
Q

What does a motor GCS 3 correspond to?

A

Decorticate posturing

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
51
Q

Describe decorticate posturing?

A

Flexed elbows, wrists, fingers

Extended and internally rotated legs

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
52
Q

What is the biphasic pathogenesis of decorticate posturing?

A

Lesions above red nucleus causes its disinhibition and thus rubrospinal tract activation -> medullary reticulospinal activation leading to upper limb flexion
Disruption of lateral corticospinal tract which gives a pyramidal weakness in lower limbs

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
53
Q

What type of posturing will a lesion of motor tracts above the red nucleus cause?

A

Decorticate posturing

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
54
Q

What type of posturing will a lesion of motor tracts at or below the red nucleus cause?

A

Decerebrate posturing

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
55
Q

What motor GCS score does decerebrate posturing imply?

A

2

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
56
Q

What type of posturing is suggested by a motor GCS of 2?

A

Decerebrate posturing

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
57
Q

Describe decerebrate posturing?

A

Extended upper and lower extremities

Arched back and head

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
58
Q

What type of posturing would a brainstem lesion typically cause?

A

Decerebrate posturing

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
59
Q

Why does a brainstem lesion cause decerebrate posturing?

A

The red nucleus remains inactivated, and thus so does the rubrospinal tract - no upper limb flexion + usual pyramidal weakness of lower limbs

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
60
Q

What does progression from decorticate to decerebrate posturing suggest?

A

Tonsilar herniation

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
61
Q

What is opisthotonos caused by?

A

Extrapyramidal effect caused by axial spinal muscle spasm

Caused in turn by inactivation of inhibitory corticoreticular fibres which act upon the pons/reticular formation

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
62
Q

5 causes of opisthotonos in kids?

A 
Meningitis
Tetanus
Kernicterus 
MSUD
Sandifer syndrome
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
63
Q

2 medications that can cause opisthotonos?

A

Phenothiazines e.g. Haloperidol, metaclopramide

Lithium intoxication

64
Q

5 neurological signs of severe heat stroke?

A 
Opisthotonos
Hallucinations
Decerebrate posturing
Oculogyric crisis
Cerebellar dysfunction
65
Q

What abnormal posturing can occur in near-death drowning?

A

Opisthotonos

66
Q

What is risus sardonicus/rictus?

A

Forced grinning - facial muscle spasm

67
Q

What are 3 differentials for risus sardonicus + opisthotonos?

A

Wilson’s disease
Strychnine poisoning
Tetanus

68
Q

What is the fencing response?

A

Posture that occurs immediately in concussion, often in impact sports
Brainstem trauma causes forearms to extend into the air on side of impact for a few seconds. Unaffected arm stays down by side

69
Q

Why does fencing response occur?

A

Lateral vestibular nucleus activation causes a primitive reflex (asymmetric tonic neck reflex) which manifests as fencing response

70
Q

What may a coronal MRI of a patient with HD look like in the long term?

A

Dilatation of the frontal horn of the lateral ventricle, due to atrophy of the caudate nucleus (‘butterfly configuration’)
Cortical atrophy

71
Q

Differentials for adult-onset chorea that is HD-negative?

A 
Neuroacanthocytosis
McLeod syndrome
DRPLA
SCA-17
HD-like syndrome 2
Fahr's syndrome
Senile chorea
72
Q

How does tetrabenazine work?

A

Binds to vesicular monamine transporter type 2 (VMAT2) to prevent NA, DA and 5-HT uptake into intraneuronal storage vesicles, leading to their depletion and an overall reduction in their tone

73
Q

2 types of drugs which may interact with tetrabenazine?

A

CYP2D6 inhibitors e.g. Sertraline, fluoxetine, paroxetine may increase concentration (enzyme inhibition)
MAOIs e.g. Phenelzine, Rasagiline, selegiline may cause hypertensive crisis due to inhibition of NA uptake

74
Q

What medications are used early on in HD management?

A

Antipsychotics e.g. Aripiprazole

75
Q

When does choreoacanthocytosis typically onset?

A

Late 20s - Early 30s

76
Q

What unusual sign, in combination with chorea, tics, dystonia and other movement disorders, may suggest choreoacanthocytosis?

A

Self-mutilating behaviour e.g. Lip or tongue biting

77
Q

Sx of choreoacanthocytosis?

A

Chorea, dystonia, tics and other movement disorders
Dementia, personality change or both (frontal type)
Seizures
Peripheral sensorimotor polyneuropathy

78
Q

Lab signs of choreoacanthocytosis?

A

Raised CK
Caudate nucleus atrophy
Acanthocytosis

79
Q

What 5 disorders make up the neuroacanthocytoses?

A 
McLeod syndrome
Huntington's disease-like 2
PKAN 
Abetalipoproteinaemia
Choreoacanthocytosis
80
Q

What genetic patterns/age of onsets may differentiate the neuroacanthocytoses?

A

McLeod syndrome is XL
Abetalipoproteinaemia is infant onset
Huntington’s disease-like 2 is AD
Choreoacanthocytosis is usually AR

81
Q

What symptoms might suggest choreoacanthocytosis over HD?

A

Self-mutilating behaviour

Peripheral neuropathy

82
Q

What disorder is suggested by choreiform movements, dementia/personality disorder, seizures, peripheral neuropathy and a raised CK?

A

Choreoacanthocytosis

83
Q

What is FXTAS?

A

Fragile-X associated tremor ataxia syndrome
Gradual onset of intention tremor, ataxia +/- dementia (cognitive impairment/frontal personality change common) in middle aged or older men (often in 60s)
Often peripheral neuropathy, autonomic symptoms e.g. ED and even mild Parkinsonism over time

84
Q

What is the middle cerebellar peduncle sign on MRI and what does it suggest?

A

Suggests FXTAS
On T1, the middle cerebellar peduncles are hypointense
On T2 they are hyperintense

85
Q

What causes FXTAS?

A

Secondary to a premutation in the fragile X mental retardation 1 gene (FMR1), present in 1/813 males
A shorter CGG triplet repeat than causes full fragile X syndrome

86
Q

Differentials for FXTAS?

A 
SCA syndromes (AD inherited)
MSA-C
87
Q

What is benign hereditary chorea?

A

AD inherited childhood-onset non-progressive chorea with no dementia, but occasionally hypothyroidism and ataxia

88
Q

What are the affected structures in DRPLA?

A

Dentate nucleus
Red nucleus
Globus pallidus
Corpus Luysii (subthalamic nucleus)

89
Q

How does DRPLA present?

A

Gradual onset AD inherited myoclonus, ataxia, seizures, chorea and dementia

90
Q

When does Wilson’s disease typically present?

A

Late childhood - early adulthood, average age 15 years

But can present any time

91
Q

Neurological symptoms of Wilson’s disease?

A

Movement disorder - wing beating tremor, dystonia (including torticolis, oculogyric crisis or ‘smile’ dystonia), chorea, Parkinsonism or dysarthria
Personality change - often frontal type
Psychosis - hallucinations, delusions and sometimes first rank Sx
Depression
Cognitive impairment
Seizures

92
Q

What is implied by the presence of neuropsychiatric symptoms in Wilson’s disease?

A

Hepatic disease

93
Q

What MRI sign is pathognomonic of Wilson’s disease?

A

Face of the panda - seen in mesencephalon

Decreased signal intensity in the red nuclei (eyes) and increased signal intensity elsewhere

94
Q

What are the lab signs of Wilson’s disease?

A 
Low caeruloplasmin 
Low total copper
Increased free copper
Elevated 24-hour urine copper excretion 
Liver biopsy is gold standard
95
Q

What is the hepatic pathology behind Wilson’s disease?

A

Copper is normally taken into hepatocytes and then disposed of in two ways, both mediated by ATP7B - one by binding copper to apocaeruloplasmin to create caeruloplasmin, and the other by vesicular secretions into bile (the main way)
ATP7B is dysfunctional so there is low caeruloplasmin and low total copper (90% of serum copper is usually caeruloplasmin bound) but raised free copper
This copper is then retained in hepatocytes and also deposited in brain, often in a pericapillary distribution

96
Q

What is the mutated protein in Wilson’s disease?

A

ATP7B

97
Q

Where is copper deposited in the eye in Wilson’s disease, where is this visible and what is the name of the phenomenon?

A

Descemet’s membrane
Visible in the corneal limbus - golden brown discolouration of the corneal limbus
Kayser-Fleischer rings

98
Q

Important Wilson’s disease differential that may mimic lab results?

A

Hereditary caeruloplasmin deficiency

Low caeruloplasmin, low total serum copper but also low 24 hour urine excretion (vs high in Wilson’s)

99
Q

3 methods of management of Wilson’s disease?

A

Chelation - penicillamine (seldom used now due to side effects), trientine or tetrathiomolybdate (preferred)
Zinc treatment
Limiting copper intake

100
Q

How does zinc therapy work for Wilson’s disease?

A

Induces intestinal metallothionein, which in turn binds copper to prevent its absorption

101
Q

What is a curative surgical procedure for Wilson’s disease?

A

Liver transplant

102
Q

3 AD inherited diseases causing progressive ataxia?

A

Gerstmann-Straussler-Scheinker disease
DRPLA
SCA

103
Q

Sporadic causes of progressive cerebellar ataxia?

A 
B12 deficiency
Hypothyroidism/SREAT
Paraneoplastic degeneration (anti-Hu)
Alcoholic cerebellar degeneration 
MSA-C
104
Q

What type of disorder is PSP?

A

Tau-opathy - abnormal tau protein aggregation

105
Q

What is the gene mutation that sometimes causes PSP?

A

MAPT gene

106
Q

What seemingly asocial symptom can become apparent in PSP?

A

Inability to hold eye contact during conversation

107
Q

What falling feature may discriminate between PSP and PD?

A

PSP features axial rigidity and backwards falls, PD is forwards

108
Q

Which Parkinsonism is more likely in a patient with no tremor and bilateral onset disease?

A

PSP

109
Q

What reflex, normally suppressed, appears in PSP patients?

A

Oculocephalic response

110
Q

What is Bell’s phenomenon?

A

Palpebral oculogyric reflex - normally when you close your eyes they look up and move out

111
Q

What are square-wave jerks and with what are they most strongly associated?

A

Saccadic fine movements with no smooth phase, visible when patient fixes on distance
Associated with PSP

112
Q

What is the histopathology in MSA?

A

Alpha synucleinopathy with aggregates in oligodendrocytes; glial cytoplasmic inclusions (GCIs)

113
Q

With what disorder are glial cytoplasmic inclusions associated?

A

MSA

114
Q

What are the 3 structural pathways affected in MSA?

A

Nigrostriatal pathway
Olivopontocerebellar atrophy
Preganglionic autonomic lesions

115
Q

What clinical feature is defining of MSA in the context of Parkinsonism?

A

Ataxia

116
Q

What tremor is classical of MSA?

A

Intention

117
Q

What 2 parkinsonisms can feature extensor plantar responses?

A

MSA and CBD

118
Q

What MRI findings are suggestive of MSA?

A

Hot cross bun sign in midbrain

Pontocerebellar atrophy

119
Q

What is suggested by the hot cross bun sign on MRI?

A

MSA

120
Q

What MRI finding is suggestive of PSP?

A

Hummingbird/King penguin sign

121
Q

What disorder is suggested by the hummingbird/King penguin sign on MRI?

A

PSP

122
Q

What is the affected nucleus in MSA responsible for the bladder and bowel disturbances?

A

Onuf’s spinal nucleus

123
Q

What nuclei are affected in MSA and CBD in the cerebellum?

A

Dentate nuclei

124
Q

What is the pathology of CBD? Where is affected?

A

Asymmetric atrophy of posterior frontal, inferior parietal and superior temporal cortices
Plus thalamus, substantia nigra and cerebellar dentate nuclei
Tau-opathy, with Pick cells but no argyrophillic Pick bodies

125
Q

Which two parkinsonisms are characterised by tau protein inclusions?

A

PSP

CBD

126
Q

Which Parkinsonism is suggested by stimulus sensitive limb myoclonus?

A

CBD

127
Q

What Parkinsonism does severe ache in limbs suggest, with asymmetrical postural tremor?

A

CBD

128
Q

What important feature is absent in CBD?

A

Dysautonomia

129
Q

Which antiemetic is best for patients starting Dopa treatment? What is the risk?

A

Domperidone

Risk of prolonging QTc so needs ECG

130
Q

What drug is used for dyskinesias and off period freezing? What are common side effects?

A

Amantidine

Side effects include dreams and sleep disturbance

131
Q

What drug is used for RBD in PD?

A

Clonazepam

132
Q

What DBS can promote freezing in PD?

A

GPi

133
Q

What drug is used for hallucinations in PD/related?

A

Rivastigmine

134
Q

What gene mutation is associated with young onset, motor only PD?

A

Parkin gene mutation

135
Q

What drug is used for PD related pain, depression?

A

Duloxetine

136
Q

How is sternocleidomastoid innervated? What is the implication of this in DBS for cervical dystonia?

A

Bilateral cortical innervation (Accessory)

Therefore always need bilateral GPi DBS

137
Q

What two muscles are involved in retrocolis dystonia?

A

SCM

Splenius capitus

138
Q

What drug can falsely raise caeruloplasmin?

A

OCP

139
Q

Suggestive characteristics of myoclonus-dystonia?

A

Positive family history
Onset under 12 years
Alcohol improves Sx

140
Q

5 differentials for myoclonus and renal failure?

A 
Wilson's disease
Mitochondrial e.g. MERRF
Renal encephalopathy
Vasculitis
Action myoclonus - renal failure syndrome
141
Q

What is MERRF and what Sx suggest it?

A 
Myoclonic epilepsy with red ragged fibres
Short stature
Deafness
Dementia
Subcutaneous lipomas
142
Q

What is suggestive of action-myoclonus renal failure syndrome?

A 
Onset in teens/early adulthood
Fine myoclonus (tremor like)
Seizures
Ataxia
Focal glomerulosclerosis
143
Q

What mutation causes action myoclonus renal failure syndrome?

A

SCARB2 mutations

144
Q

What 3 diseases can SCARB2 mutations cause?

A

Action myoclonus renal failure syndrome
Gaucher’s disease
Myoclonus epilepsy

145
Q

What can be a later presentation of methylmelanuric aciduria?

A

Striatal necrosis - young patients with hyperkinetic chorea/tremor disorder and sometimes Parkinsonism

146
Q

What is the general picture of DYT6 dystonia?

A

Generalised dystonia starting in 30s, from head/neck and progressing from there

147
Q

What 3 phenotypes can be caused by c9orf72 deficiency?

A

ALS
FTD
Chorea and fasciculations

148
Q

What are the 3 most common mutations seen in ALS?

A

c9orf72 mutation
Superoxide dismutase (SOD1)
TAR DNA binding protein 43 (TDP-43)

149
Q

In roughly what percentage of familial ALS is c9orf72 mutation responsible?

A

40%

150
Q

What SCA is a HD differential?

A

SCA 17 - late onset dysphagia, dementia, psych Sx, chorea/dystonia, epilepsy or parkinsonism

151
Q

What mutation causes myoclonus dystonia and what inheritance pattern does it show?

A

Epsilon sarco-glycan (SGCE)

AD but shows maternal imprinting

152
Q

Which general sort of neuropathy can sometimes cause a tremor?

A

Demyelinating

153
Q

What type of disorder is CBD?

A

Tauopathy

154
Q

What is the LRRK2 mutation?

A

GS2019S

155
Q

3 radiological signs of MSA?

A

Hot cross bun sign in midbrain
Putaminal rim hyperintensity
Middle cerebellar peduncle hyperintensity

Brain (22 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions