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AHG2 > Syndromes: Neurologic > Flashcards

Syndromes: Neurologic Flashcards

1
Q

Microcephaly vera

A

ASPM, WDR62

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2
Q

Periventricular heterotopia (AD)

A

FLNA

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3
Q

Periventricular heterotopia (AR)

A

ARFGEF2

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4
Q

Band heterotopia (XD)

A

DCX

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5
Q

Band heterotopia (XR)

A

ARX

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6
Q

Lissencephaly (AD)

A

LIS1, TUBA1A

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7
Q

Lissencephaly (XL)

A

DCX, ARX

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8
Q

Posterior lissencephaly

A

DYNC1H1, CEP85L

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9
Q

Lissencephaly with cerebellar hypoplasia (AR)

A

RELN, VLDLR

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10
Q

Type 2 Lissencephaly/Walker-Warburg

A

POMT1/2, Fukutin

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11
Q

Type 2 Lissencephaly/Muscle-Eye-Brain disease

A

POMGnT1

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12
Q

Polymicrogyria + macrocephaly

A

mTOR pathway (PIK3CA, PIK3R, mTOR, AKT3, CCND2)

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13
Q

Polymicrogyria + microcephaly

A

ASPM, WDR62, RAP3GAP2

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14
Q

Polymicrogyria + normocephaly

A

Tubulinopathies (TUBB2B), ion channels (SCN3A)…

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15
Q

Order of myelination

A

Projection before association, peripheral before central, sensory before motor (proprioception, vision, then auditory). Pyramidal tract myelination occurs with developmental milestones.

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16
Q

0-6mo with hyperirritability, arching, hyporeflexia. Rapid decline to seizures and death. MRI: Posterior demyelination without contrast enhancement.

A

Classic infantile Globoid cell leukodystrophy/Krabbe disease; GALC

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17
Q

3-8yo with spasticity, abnormal gait with frequent falls, rarely ocular abnormalities. MRI: posterior demyelination without contrast enhancement.

A

Juvenile onset Globoid cell leukodystrophy/Krabbe disease; GALC

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18
Q

<18mo, progressive macrocephaly, poor head control, delayed sitting, hypotonia, nystagmus. MRI: edematous white matter esp. basal ganglia demyelination & subcortical U-fibers, high NAA on MRS.

A

Canavan disease: N-acetylaspartoacylase

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19
Q

Newborn with respiratory distress, poor feeding, fluctuation in tone, and refractory seizures. MRI: cavitation of posterior white matter.

A

Sulfite oxidase deficiency; detectable with + urine sulfite dipstick or elevated urine thiosulfate and sulfocysteine

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20
Q

6-15mo with arrest in development, pain with minimal passive movement of limbs. Diffuse (butterfly) demyelination with sparing of subcortical U-fibers.

A

Late infantile onset Metachromatic leukodystrophy: ARSA/arylsulfatase A

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21
Q

3-8yo behavioral changes, tremor, gait difficulties, and seizures. MRI: diffuse (butterfly) demyelination with sparing of subcortical U fibers.

A

Juvenile onset Metachromatic leukodystrophy: ARSA/arylsulfatase A

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22
Q

Infant <2yo w/macrocephaly, regressions seizures

A

Alexander Disease: GFAP

23
Q

Child with headache, vomiting, symmetric brainstem lesions

A

Juvenile-onset Alexander Disease: GFAP

24
Q

Episodic dramatic declines (motor milestones, ataxia; eventually mental status) triggered by fevers head trauma; no seizures.

A

Vanishing white matter disease: eIF2B (initiation factor for translation)

25
Q

Boy with hyperactivity, inattention, gait difficulties –> nonambulatory and nonverbal within months.

A

Childhood cerebral adrenoleukodystrophy (ABCD1), X-ALD

26
Q

Adult male with slowly progressive spastic paraparesis, bladder/bowel problems, intact cognition for the most part.

A

Adrenomyeloneuropathy (ABCD1), X-ALD; spinal cord involvement mostly although do remain at risk for demyelination of brain

27
Q

Cataracts, chronic diarrhea, coordination difficulty, dementia

A

Cerebrotendinous xanthosis: CYP27A1. Treat with chenodeoxycholic acid

28
Q

Sudden loss of motor function, cystic changes in brain MRI after head trauma in adult

A

Adult vanishing white matter disease: eIF2B5

29
Q

Adult with personality/behavioral changes, dementia, depression, epilepsy, eventual motor dysfunction. White matter degeneration/demyelination on brain MRI.

A

Hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS): CSF1R (microglial gene)

30
Q

Infant with nystagmus, hypotonia -> motor delay, prominent ataxia -> spastic paresis. Slow improvement until puberty, then variable decline.

A

Pelizaeus-Merzbacher disease: proteolipid protein 1 PLP1 (myelin protein), XL

31
Q

3-5mo with weakness and decreased responsiveness, exaggerated startle, myoclonic jerks, seizures, cherry red macula, loss of motor milestones, HSM.

A

Infantile GM2 gangliosidosis: Tay-Sachs/ HEXA, Sandhoff/HEXA or B

32
Q

Adolescent or adult w/cognitive impairment, poor coordination w/loss of ability to walk. Normal myelination.

A

Juvenile or adult-onset GM2 gangliosidosis: HEXA or HEXB

33
Q

High arches, hammer toes, demyelination

A

Charcot-Marie-Tooth: AD, most common PMP22 dup (and HNPP deletion w/non-homologous recombination); X-linked GJP1 (1/3 affected like males)

34
Q

Spontaneous foot-drop, wrist-drop

A

Hereditary neuropathy w/pressure palsies: loss of HNPP

35
Q

Fragile X repeat

A

CGG in 5’ UTR

36
Q

SCA repeats

A

CAG, usually exonic.

37
Q

Huntington disease repeats

A

CAG (polyQ) in exon

38
Q

Friederich ataxia repeats

A

GAA in intron

39
Q

Myotonic dystrophy repeats

A

CTG (CUG) in 3’ UTR – missed by exome sequencing, RAN translation -> toxic products

40
Q

Progressive myoclonus epilepsy repeat

A

Long repeat in promoter

41
Q

Proximal weakness, myotonia w/percussion or cold, arrhythmias/conductive block, myopathic facies, diabetes, hypogonadism, GI pseudoobstruction

A

Myotonic dystrophy

42
Q

Expansion from maternal allele

43
Q

Expansion from paternal allele

44
Q

Adult w/progressive cerebellar ataxia and intention tremor, memory loss, cognitive decline, peripheral neuropathy, autonomic dysfunction

A

Fragile-X ataxia syndrome – from permutation (55-200 CGG repeats) increasing rate with age

45
Q

High risk ApoE alleles for AD

A

E4/E4 highest risk (clearance and oligomerization of APP)

46
Q

Parkinson plus other symptoms

A

Progressive supranuclear palsy or multiple system atrophy (motor failure), poor response to levodopa

47
Q

AD Parkinson genes

A

SCNA (alpha synuclein)/PARK1 or LRRK2/PARK8 (incomplete penetrance)

48
Q

Other loci associated with Parkinson disease

A

MAPT (microtubule-associated Tau), Glucocerebrosidase (Gaucher disease), some other very rare AR genes

49
Q

SMA genetic basis

A

Homozygous deletion of exon 7 in SMN1, # of copies of SMN2 determines how much functional protein gets made (1-2 copies = never sit, 3-4 progress more). 5% have compound heterozygosity for SMN1 (e.g. deletion/mutation). Normal individuals have 2-3 copies of SMN1 and 0-3 of SMN2; carriers have only 1 copy SMN1.

50
Q

Floppy baby (most never sit), tongue fasciculations, expressive face

A

SMA (loss of anterior horn cells)

51
Q

Medications to increase SMN2 production in SMA

A

Intrathecal ASO Nusinersen, oral SMN2 splicing modifier Risdiplam (approved)

52
Q

Limb-girdle weakness w/elevated CK, onset before age 5. Cardiomyopathy, cognitive impairment, lose ability to walk after age 12, death in 20s-30s.

A

Duchenne muscular dystrophy

53
Q

Limb-girdle weakness w/elevated CK, progressive onset after age 5, cardiomyopathy, respiratory failure in 40s.

A

Becker muscular dystrophy

54
Q

Treatment for DMD

A

ASOs that skip exons 51 or 53 –> BMD, AAV therapy with “microdystrophin” small version of gene

AHG2 (12 decks)

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