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Congenital or genetic neurological disorders Flashcards

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1
Q

What is a type 1 Chiari malformation?

A

Cerebellar tonsils lie below the foramen magnum - cerebellar ectopia
May or may not be Sx

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2
Q

What is the name given to a condition where the cerebellar tonsils congenitally sit below the foramen magnum (cerebellar ectopia)?

A

Type 1 Chiari malformation

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3
Q

What is a type 2 Chiari malformation?

A

Part of the cerebellar vermis, medulla and 4th ventricle extend through the foramen magnum often down to mid cervical region

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4
Q

How does a type 2 Chiari often present?

A

Syringomyelia/hydromyelia
Spina bifida
Hydrocephalus
CN signs as lower CNs are stretched

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5
Q

What is Klippel Feil?

A

Association between cervical fusion and type 2 Chiari malformation

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6
Q

What is the name given to a condition where part of the cerebellar vermis, medulla and 4th ventricle extend down through the foramen magnum congenitally?

A

Type 2 Chiari malformation

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7
Q

What is a type 3 Chiari malformation?

A

Part of the cerebellum and medulla lie within a cervico-occipital meningomyelocoele

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8
Q

What is the name given to a condition where part of the cerebellum and medulla lie within a meningomyelocoele?

A

Type 3 Chiari malformation

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9
Q

How might a Chiari malformation present in childhood?

A

Gait ataxia and syringomyelia

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10
Q

How do severe type 2/3 Chiari malformations often present?

A 
Respiratory difficulties 
Lower CN palsies
Spina bifida 
Nystagmus, retrocolis and spasticity
In infancy
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11
Q

How can mild type 2 or type 1 chiari malformations present?

A

In adulthood with spastic quadraplegia, ataxia, occipital pressure dependent headaches and nystagmus
As well as severe bulbar Sx

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12
Q

What form do lower limbs take in CMT?

A

Inverted champagne bottles due to distal muscle wasting

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13
Q

What is the classical picture of CMT1a?

A

LMNL of intrinsic foot muscles, peroneal and tibial groups and distal UL involvement, often with palpable peripheral nerves
Pes cavus common
Ataxia and tremor can occur

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14
Q

When does CMT1a present?

A

Usually before 30

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15
Q

What form do lower limbs take in CMT?

A

Inverted champagne bottles due to distal muscle wasting

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16
Q

What is the classical picture of CMT1a?

A

LMNL of intrinsic foot muscles, peroneal and tibial groups and distal UL involvement, often with palpable peripheral nerves
Pes cavus common
Ataxia and tremor can occur

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17
Q

When does CMT1a present?

A

Usually before 30

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18
Q

What form do lower limbs take in CMT?

A

Inverted champagne bottles due to distal muscle wasting

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19
Q

What is the classical picture of CMT1a?

A

LMNL of intrinsic foot muscles, peroneal and tibial groups and distal UL involvement, often with palpable peripheral nerves
Pes cavus common (high foot arches)
Ataxia and tremor can occur

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20
Q

When does CMT1a present?

A

Usually before 30, often in childhood or early adulthood

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21
Q

What is the common presenting feature of CMT?

A

Foot drop, which may be unilateral

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22
Q

What sensory modalities tend to be affected in CMT? What isn’t?

A

Dorsal columns - touch, vibration, proprioception

Pain isn’t affected so neuropathic pain can be a feature

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23
Q

What toe changes are seen in CMT?

A

Claw toes and hammer toes

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24
Q

What is the prevalence of CMT?

A

Roughly 1/2500

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25
What protein is dysfunctional in CMT1A?
PMP-22 (peripheral myelin protein 22)
26
What 2 diseases are characterised by dysfunctional PMP-22 protein?
CMT1A | HNPP
27
What is the affected protein in CMT1B?
Myelin protein zero (P0)
28
What disease is characterised by myelin protein zero (P0) dysfunction?
CMT 1B
29
What type of neuropathy does CMT 1 produce and what does this show on neurophysiology?
Demyelinating - reduced conduction velocity
30
How are CMT 1 and 2 inherited?
AD
31
What mutation causes CMT2A?
Mitofusin 2 mutation
32
What type of neuropathy does CMT2 show? How is this reflected on neurophys?
Axonal - reduced amplitudes
33
What is Dejerine Sottas disease?
The most severe CMT phenotype - infant onset with profound demyelination and possible proximal involvement
34
What is the most severe phenotype of CMT called?
CMT3/Dejerine Sottas disease
35
How is Dejerine Sottas disease inherited?
AR
36
What differentiates CMT 4 from the other phenotypes?
AR inheritance but not as severe as Dejerine Sottas
37
What causes CMT X?
Connexin-32 protein mutations on X chromosome
38
What is interesting about the neurophysiological presentation of CMT X depending on the sex of the patient?
Demyelinating and more severe in boys | Axonal in women
39
What other orthopaedic problems may be seen in CMT?
Scoliosis | Hip dysplasia
40
What does CMT 5 feature?
Pyramidal involvement
41
What does CMT 6 feature?
Optic atrophy
42
Which CMT features optic atrophy?
CMT 6
43
What does a presentation of ataxia plus DM plus cardiac Hx suggest, especially if in context of a family history?
Freidreichs ataxia
44
What does cerebellar syndrome plus length dependent neuropathy plus lymphoma suggest?
Ataxia telangiectasia
45
What does cerebellar syndrome plus length dependent neuropathy plus lymphoma plus raised AFP suggest, in the absence of a detectable ATX mutation?
Ataxia with oculomotor apraxia (AOA)
46
Cerebellar syndrome plus length dependent neuropathy plus dystonia =?
Ataxia with oculomotor apraxia
47
What type of disorder is myotonic dystrophy and what kind of change does it show moving through generations?
Triplet repeat disorder | Anticipates in maternal line (rather than the usual paternal)
48
Which type of episodic ataxia is treated by acetazolamide?
Type 2
49
What is Refsum's disease? Deficient thing and responsible gene? What builds up?
Inherited disease of fatty acid oxidation Phytanoyl-coenzyme A hydroxylase deficiency due to PAHX/PHYH gene mutation Build up of phytanic acid in blood and tissues in lysosomes
50
5 Sx of Refsum's disease?
``` CMT like sensorimotor neuropathy Retinitis pigmentosa Cerebellar ataxia Deafness and Anosmia Cardiomyopathy ```
51
What is the best imaging modality for looking at tuberous sclerosis lesions and why?
CT, because the lesions calcify
52
What is the only AR triplet repeat disorder?
Friedreichs ataxia
53
What can CSF1R gene mutation cause?
Adult onset leukodystrophy with axonal spheroids and pigmented glia (ALSP)
54
What gene mutation causes adult onset leukodystrophy with axonal spheroids and pigmented glia (ALSP)?
CSF1R
55
What gene mutation causes Alexander Disease?
GFAP - glial Fibrillary acidic protein
56
What disease does GFAP mutation cause?
Alexander disease
57
What histology finding is characteristic of Alexander disease?
Rosenthal fibres - abnormal protein deposits in astroglial cells
58
What disease are Rosenthal fibres on histology classic of?
Alexander Disease
59
What is Alexander disease and how does it present?
An AD leukodystrophy, usually presenting under 2 years of age with seizures, megalencephaly, spasticity, developmental delay, learning difficulties...
60
When was the HTT gene identified?
1993
61
3 AD mutations are responsible for more than 50% of HSP cases - what are they?
SPG4 - spastin SPG3A - atlastin 1 REEP1 - SPG31
62
What do TUBB4A mutations cause? What are the major features?
Hypomyelinating leukodystrophy Early life delayed motor development, gait instability and progressing to Extrapyramidal (BG) movement disorders, progressive spastic tetraplegia, ataxia, seizures etc.
63
What is the prevalence of HD?
Around 1/10000
64
What is the most common AR HSP mutation?
SPG11
65
6 'complicated' symptoms of HSP?
``` Eye - optic nerve, retinal damage, cataracts Ataxia Peripheral neuropathy Epilepsy Deafness Cognitive impairment ```
66
What is the underlying pathology of HSP?
Length dependent axonal degeneration of ascending and descending tracts - mostly corticospinal but also fasciculus gracilis (proprioceptive fibres) and spinocerebellar tracts
67
What tract carries proprioceptive fibres?
The fasciculus gracilis
68
What is the gene, protein and triplet repeat causing Friedreichs ataxia?
FXN - frataxin protein | GAA triplet repeat
69
Is it loss or gain of function that causes the damage in Friedreichs ataxia and how?
Loss of function - frataxin disruption in mitochondria causes oxidative stress and free radical build up
70
When does Friedreichs ataxia usually present?
Age 5-15
71
What neuropathy and what type is often present in Friedriechs ataxia?
Demyelinating peripheral dorsal column sensory neuropathy (proprioceptive)
72
What MSK change may be common in Friedreichs ataxia?
Scoliosis
73
What endocrine complications occur in Friedreichs ataxia? In what percentage?
DM in 10%
74
What heart problems are common in Friedreichs ataxia?
HOCM Myocardial fibrosis Heart failure Tachy or bradyarrythmias
75
What is Perrault syndrome?
AR inherited bilateral SN hearing loss Ovarian dysgenesis Neurological Sx
76
What is Mowat-Wilson syndrome?
Developmental delay, microcephalic and facial features (square) Plus hirschprungs disease

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