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Congenital or genetic neurological disorders Flashcards

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
Q

What protein is dysfunctional in CMT1A?

A

PMP-22 (peripheral myelin protein 22)

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26
Q

What 2 diseases are characterised by dysfunctional PMP-22 protein?

A

CMT1A

HNPP

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27
Q

What is the affected protein in CMT1B?

A

Myelin protein zero (P0)

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28
Q

What disease is characterised by myelin protein zero (P0) dysfunction?

A

CMT 1B

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29
Q

What type of neuropathy does CMT 1 produce and what does this show on neurophysiology?

A

Demyelinating - reduced conduction velocity

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30
Q

How are CMT 1 and 2 inherited?

A

AD

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31
Q

What mutation causes CMT2A?

A

Mitofusin 2 mutation

32
Q

What type of neuropathy does CMT2 show? How is this reflected on neurophys?

A

Axonal - reduced amplitudes

33
Q

What is Dejerine Sottas disease?

A

The most severe CMT phenotype - infant onset with profound demyelination and possible proximal involvement

34
Q

What is the most severe phenotype of CMT called?

A

CMT3/Dejerine Sottas disease

35
Q

How is Dejerine Sottas disease inherited?

A

AR

36
Q

What differentiates CMT 4 from the other phenotypes?

A

AR inheritance but not as severe as Dejerine Sottas

37
Q

What causes CMT X?

A

Connexin-32 protein mutations on X chromosome

38
Q

What is interesting about the neurophysiological presentation of CMT X depending on the sex of the patient?

A

Demyelinating and more severe in boys

Axonal in women

39
Q

What other orthopaedic problems may be seen in CMT?

A

Scoliosis

Hip dysplasia

40
Q

What does CMT 5 feature?

A

Pyramidal involvement

41
Q

What does CMT 6 feature?

A

Optic atrophy

42
Q

Which CMT features optic atrophy?

A

CMT 6

43
Q

What does a presentation of ataxia plus DM plus cardiac Hx suggest, especially if in context of a family history?

A

Freidreichs ataxia

44
Q

What does cerebellar syndrome plus length dependent neuropathy plus lymphoma suggest?

A

Ataxia telangiectasia

45
Q

What does cerebellar syndrome plus length dependent neuropathy plus lymphoma plus raised AFP suggest, in the absence of a detectable ATX mutation?

A

Ataxia with oculomotor apraxia (AOA)

46
Q

Cerebellar syndrome plus length dependent neuropathy plus dystonia =?

A

Ataxia with oculomotor apraxia

47
Q

What type of disorder is myotonic dystrophy and what kind of change does it show moving through generations?

A

Triplet repeat disorder

Anticipates in maternal line (rather than the usual paternal)

48
Q

Which type of episodic ataxia is treated by acetazolamide?

A

Type 2

49
Q

What is Refsum’s disease? Deficient thing and responsible gene? What builds up?

A

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
Q

5 Sx of Refsum’s disease?

A 
CMT like sensorimotor neuropathy
Retinitis pigmentosa
Cerebellar ataxia
Deafness and Anosmia
Cardiomyopathy
51
Q

What is the best imaging modality for looking at tuberous sclerosis lesions and why?

A

CT, because the lesions calcify

52
Q

What is the only AR triplet repeat disorder?

A

Friedreichs ataxia

53
Q

What can CSF1R gene mutation cause?

A

Adult onset leukodystrophy with axonal spheroids and pigmented glia (ALSP)

54
Q

What gene mutation causes adult onset leukodystrophy with axonal spheroids and pigmented glia (ALSP)?

A

CSF1R

55
Q

What gene mutation causes Alexander Disease?

A

GFAP - glial Fibrillary acidic protein

56
Q

What disease does GFAP mutation cause?

A

Alexander disease

57
Q

What histology finding is characteristic of Alexander disease?

A

Rosenthal fibres - abnormal protein deposits in astroglial cells

58
Q

What disease are Rosenthal fibres on histology classic of?

A

Alexander Disease

59
Q

What is Alexander disease and how does it present?

A

An AD leukodystrophy, usually presenting under 2 years of age with seizures, megalencephaly, spasticity, developmental delay, learning difficulties…

60
Q

When was the HTT gene identified?

A

1993

61
Q

3 AD mutations are responsible for more than 50% of HSP cases - what are they?

A

SPG4 - spastin
SPG3A - atlastin 1
REEP1 - SPG31

62
Q

What do TUBB4A mutations cause? What are the major features?

A

Hypomyelinating leukodystrophy
Early life delayed motor development, gait instability and progressing to Extrapyramidal (BG) movement disorders, progressive spastic tetraplegia, ataxia, seizures etc.

63
Q

What is the prevalence of HD?

A

Around 1/10000

64
Q

What is the most common AR HSP mutation?

A

SPG11

65
Q

6 ‘complicated’ symptoms of HSP?

A 
Eye - optic nerve, retinal damage, cataracts
Ataxia
Peripheral neuropathy
Epilepsy
Deafness
Cognitive impairment
66
Q

What is the underlying pathology of HSP?

A

Length dependent axonal degeneration of ascending and descending tracts - mostly corticospinal but also fasciculus gracilis (proprioceptive fibres) and spinocerebellar tracts

67
Q

What tract carries proprioceptive fibres?

A

The fasciculus gracilis

68
Q

What is the gene, protein and triplet repeat causing Friedreichs ataxia?

A

FXN - frataxin protein

GAA triplet repeat

69
Q

Is it loss or gain of function that causes the damage in Friedreichs ataxia and how?

A

Loss of function - frataxin disruption in mitochondria causes oxidative stress and free radical build up

70
Q

When does Friedreichs ataxia usually present?

A

Age 5-15

71
Q

What neuropathy and what type is often present in Friedriechs ataxia?

A

Demyelinating peripheral dorsal column sensory neuropathy (proprioceptive)

72
Q

What MSK change may be common in Friedreichs ataxia?

A

Scoliosis

73
Q

What endocrine complications occur in Friedreichs ataxia? In what percentage?

A

DM in 10%

74
Q

What heart problems are common in Friedreichs ataxia?

A

HOCM
Myocardial fibrosis
Heart failure
Tachy or bradyarrythmias

75
Q

What is Perrault syndrome?

A

AR inherited bilateral SN hearing loss
Ovarian dysgenesis
Neurological Sx

76
Q

What is Mowat-Wilson syndrome?

A

Developmental delay, microcephalic and facial features (square)
Plus hirschprungs disease

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