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Neurology Recert > Genetics > Flashcards

Genetics Flashcards

1
Q

Nodular periventricular heterotopia

A

Filamin A
Lethal in males
X linked dominant

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2
Q

Periventricular nodular heterotopia

AR

A

ARFGEF2 gene

Autosomal recessive

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3
Q

Congenital Rett syndrome

A

FOXG1

Movement disorders, choreoathetosis, hypotonia, microcephaly severe epilepsy

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4
Q

Rett syndrome

A

MECP2

Females acquired microcephaly hand wringing severe epilepsy respiration abnormalities

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5
Q

Severe Rett

X linked infantile spasms

A

CDKL5

Severe epilepsy hypotonia and severe cognitive and psychomotor delays

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6
Q

Severe myoclonic epilepsy of infancy

A

SCN1A

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7
Q

SMEI

A

CDKL5
PDCH19
GABRG2

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8
Q

Epilepsy limited to females with mental retardation

A 
Familial syndrome
Convulsions in infancy
Intellectual impairment
Autistic features
Transmission by males
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9
Q

Language deterioration

1-2 hz continuous spike wave with slow wave sleep

A

Landau kleffner

Seizures can include GTC, partial clonic, atonic

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10
Q

Epileptic encephalopathy malignant migrating focal seizures of infancy

A

KCNT1

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11
Q

ADNFLE

A

KCNT1

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12
Q

Angelman syndrome

A

Maternal contribution absent on 15q11-q13
70% de novo

2% paternal uniparental disomy
2-3% imprinting defects

Subset of remaining ubiquitin-protein ligase E3A, UBE 3a

Also some with MECP2

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13
Q

Trescher Collins syndrome

A

Abnormal development of facial bones, normal IQ

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14
Q

De Morsier’s syndrome

A

Septic-optic dysphasia

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15
Q

Teratogenic phenytoin

A

Fetal hydantoin syndrome

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16
Q

X linked west syndrome

A

ARX

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17
Q

Glut-1 deficiency

A

SLC2A1

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18
Q

Early infantile epileptic encephalopathy with suppression burst

A

Ohtahara syndrome?

19
Q

Scurvy

A 
Ground glass osteopenia
Bleeding 
Hemarthroses
Arthralgias
Malaise
Weakness
20
Q

POLG myoclonic epilepsy, myopathy and sensory ataxia

A

DNA polymerase gamma 1 sequence - now includes SCa with epilepsy

C1399g>a, p.A467T
C.2244g>c(p.w748

21
Q

Alpers-Huttenlocher syndrome

A

Childhood onset progressive, severe encephalopathy with intractable epilepsy and hepatic failure

Polg

22
Q

Childhood myocerebrohepatopathy spectrum (mchs)

A 
First few months of life to three years 
Dev delay or dementia
Lactic acislsis
Myopathy 
FTT
Liver failure
Renal tubular acidosis
Pancreatitis
Cyclic vomiting 
Hearing loss

Polg

23
Q

Ataxia neuropathy spectrum

A

2/3 seizure
1/2 ophthalmoplegia
Polg

24
Q

AR progressive external ophthalmoplegia

A

Progressive weakness of eo eye muscles - otosis ophthalmoparesis

No systemic involvement

Polg

25
Q

As progressive ophthalmoplegia

A 
Myopathy hearing losses axonal neuropathy
Ataxia 
Depression 
Parkinsonism
Hypogonadism
Cataracts

Polg

26
Q

AR primary congenital glaucoma

A

CYP1B1

27
Q

Lissencephaly

A

LIS1, chromosome 17p13.3
Miller dieker and isolated lissencephaly sequence

Type 1 classic lissencephaly

28
Q

Males lissencephaly

A 
DCX
X chromosome
Makes lissencephaly
Females subcortical band heterotopias
Double cortex syndrome
29
Q 
Variant lissencephaly
Agyria or pachygyria with posterior to anterior gradient of severity
Thick cortex
Agenesis of cc
Abn white matter
Poorly defined bg
A

ARX

30
Q

Generalized pachygyria
Severe cerebellar hypoplasia
Hippocampal abnormalities

A

RELN

31
Q 
Pre and post natal overgrowth
Microcephaly
High anterior hair line
Frontotemporal hake sparsity
Prominent mandible
Advanced bone age
Hypotonia
GDD
A

Sotos syndrome
1:10000 to 1:50k
Intragenic truncating mutations or microdeletions
Haploinsufficiency of nuclear receptoenvinding SET domain protein 1(NSD1)
5q35.3

Most sporadic

32
Q

Maternal PKU syndrome

A

Congenital heart defects
Microcephaly
Growth retardation

33
Q

Zellweger syndrome

A 
Peroxisomal disorder
Very long chain fatty acids
Dx - lack of peroxisomal function
No peroxisomes on EM
Elevated vlcfa or low plasmalogens
Total absence of liver peroxisomes
Dysmorphic facies
Hypotonia
Seizures
Mental retardation
Neuronal heterotopias 
Cataracts and or glaucoma
Renal cysts 
50% with epiphyseal calcifications
Hepatomegaly

Dear 6-12 months

34
Q

Neurocystercercosis

A

Scolex
Tapeworm - tanea solium

4 subtypes
Parenchymal
Subarachnoid/cisternal
Intraventricular
Spinal

ELiSA for igg antibodies to t. Solium
Need to confirm by western blot

Treat with
Albendozole or praziquantel
Hydrocephalus common

35
Q

NCL

A

Storage disorder of accumulation of autofluorescent material, ceroid lipofuacin

10 genetic ncl
CLN1-10
Neurological regression, epilepsy and visual loss due to retinal degeneration

Skin biopsy leukocyte inclusions

36
Q

Polymicrogyria

A

Congenital infection (cmv)
Diffuse in utero
Ischemia
Genetic mutations

Bilateral in 60%
Most commonly around the Sylvian fissure

Bilateral frontoparietal GPR56
AR

37
Q

SAH

A

Nimodipine

Note sentinel bleed

38
Q

Congenital CMV

A

SGA
Chorioretinitis, optic atrophy, central vision loss, retinal scars
Sensorineural hearing loss bilateral progressive
Organomegaly
Thrombocytopenia
Jaundice

Periventricular cysts calcifications
Vasculitis
Hydrancephaly
Neuronal migration abnormalities

Amino if suspected in utero
Urine culture if Suspected at birth
CMV dna by PCR within 3 weeks of birth
Gancyclovir for 6 weeks - hearing outcomes improved

39
Q

Torsion dystonia
Intoeing with walking
Progresses to dystonic posturing
Generalized dystonia

A

Dystonia musculorum Deformans

Torsion A, DYT1

40
Q

Myoclonus dystonia

A

Combination of myoclonus or dystonia
Depression anxiety ocd
Mutations in the
Episolon-sarcoycan gene (SCGE)

41
Q

Gait disturbance foot dystonia
Parkinsonism
Diurnal symptom fluctuation
Segawa syndrome

A

GTP cyclohydrolase 1 deficient dopa responsive dystonia (GTPCH1) genetic defect is gch1
Response to low doses of levodopa

42
Q

Progressive dystonia
BG fe deposition
Eye of the tiger

A

PKAN
Hallervorden Spatz
PANK2 - 50%
If eye of the tiger 100%

Note NBIA is another name- neurodegeneration with brain iron accumulation

Note retinopathy dysarthria

43
Q

Non progressive chorea

AD

A

Benign hereditary chorea

Mutations in the thyroid transcription factor (tITF-1 ) gene

Neurology Recert (3 decks)

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