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Peds neuro boards, V2 > Neuro-genetics > Flashcards

Neuro-genetics Flashcards

1
Q
  1. What is this?
  2. What is it pathomagmonic for?
A
  1. Christmas Tree Cataract
  2. Myotonic Dystrophy
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2
Q
  1. What is this showing?
    1. What is it seen in?
A
  1. Thinning of cervical spinal cord
  2. Friedrich ataxia
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3
Q

Define pseudodominance

A

In cases of higher incidence of Inbreeding or in situations with higher rater of carrier frequence > creates appearance of a dominant pedigree

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4
Q

Angelman vs Prader-Willi

  1. Gene and variations between two

Angleman features (5)

Prader-Willi Features (7)

A

15q11-13

Angelman (maternal deletion)

  1. Developmental delay / ID
  2. Impaired speech
  3. ataxia
  4. epilepsy
  5. Characteristic demeanor / behavior (“happy puppet)

Prader-Willi (paternal deletion)

  1. Intellectual disabilty / learning disorders
  2. short stature
  3. poor motor skills
  4. Initial infantile hypotonia / feeding difficulty (may initially be FTT)
  5. weight gain / obesity
  6. Underdeveloped genetialia
  7. Bahvioral problems (hyperphagia)
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5
Q

Epidermal Nevus Syndrome:

  1. Subcategories
  2. Common features (3)
  3. MRI findings (5)
  4. increased risk for (3)
A
  1. Supercategory for several disorders
    1. Proteus syndrome
      1. asymmetric and marked hypertrophy of soft tissues and bones
    2. Sebaceous syndrome
    3. Becker Nevus sydrome
  2. Common features
    1. intellectual disability
    2. seizures
    3. cranial neuropathies
  3. MRI features
    1. Hemimegalencephaly (ipislateral to facial nevus) with contralateral hemiparesis
    2. Focal pachygyria
    3. agenesis of corpus callosum
    4. Dandy-walker syndrome
    5. Neural tube defects
  4. Increased risk of
    1. “nevus” malignancies (basal cell carcinoma vs other skin malignancy conversion)
    2. astrocytoma
    3. other systemic malignancies
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6
Q

Alzeheimers disease mutations

  1. Associated with Alzheimers (4)
  2. Protective (1)
A
  1. Presenilin 1: Chromosome 14 (most common)
  2. Presennilin 2: Chromosome 1
  3. Amyloid precursor protein (APP): Chromosome 22
  4. APOE4: chromosome 19 (highest risk for late-onset AD
  5. APOE2 allele: Chromosome 19>>>>PROTECTIVE
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7
Q

Alzheimer’s disease mutations

  1. Effect of Presenilin protein
  2. Effect of Amyloid precursor protein
A
  1. Mutations in APP lead to greater proportion of aß42 formed during degredation > amyloid fibrils
  2. part of gamma-secretase complex (part of pathway that breaks down APP)
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8
Q

Hereditary Hemorrhagic Telangiectasia

  1. AKA
  2. Inheritance
  3. Gene mutations (2) and effect of each
  4. Symptoms (2)
A
  1. osler-Weber-Rendu
  2. Autosomal Dominant
  3. Gene mutations
    1. HHT1 gene (Chr. 9) Endoglin > binds to transforming growth factor B (TGF-B)
    2. HHT2 gene (Chr. 12) ***
  4. Presentation
    1. Signs of bleeding (epistaxis, GI bleedin, iron deficiency anemia)
    2. Telangiagtasia on face (lips, oral mucosa), fingertips, and retina
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9
Q

PMP22 mutations:

  1. Full Duplication
  2. Partial duplication
  3. Deletion
  4. Point mutations (3)
A
  1. Full duplication: CMT1A
  2. Partial Duplication: Roussy-Levy Syndrome
  3. Deletion: Hereditary Neuropathy with Liability for Pressure Palsies (HNPP)
  4. Point mutations
    1. CMT 1E
    2. CMT 3 (Dejerine Sottas Syndrome)
    3. Congenital hyponyelinating neuropathy
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10
Q

Dejerine-Sottas Syndrome

  1. Gene
  2. symptoms
  3. Similar to ____
A
  1. point mutation of PMP22 gene
  2. Syptoms
    1. severe demyelinating and axonal nauropathy beginning in infancy
    2. delayed motor milestones
    3. sensory defects
    4. skeletal defects
    5. slowed conduction velocoties and reduced motor and sensory amplitudes
  3. Difficult to distinguish from congenital hypomyelination (infantile hypotonia, motor delays, very slow nerve conduction velocities
    1. Note: same gene is mutated
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11
Q

Hypokalemic periodic paralysis VS Hyperkalemic periodic parlaysis

  1. Gene
  2. What triggers Weakness
A

Hypokalemic Periodic Paralysis (think Cramps after eating a donut by the pool)

  1. Gene: CACNA1S
  2. Weakness worsened by:
    1. High-carbohydrate meals
    2. Excercise after periods of rest

Hyperkalemic Periodic Paralysis (Staying in during the winter eating…meat and stuff)

  1. Gene: SCN4A
  2. Weakness worsened by
    1. high potassium foods (like meat)
    2. Cold exposure
    3. Moderate exercise FOLLOWED BY rest
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12
Q

Subtypes of holoprosencephaly

A: (2)

B: (3)

C: (4)

A
  1. Alobar holoprosencephaly
    1. Single midline ventricle
    2. continuity of cerebral cortex across midline
  2. Semilobar holoprosencephaly
    1. incomplete interhemispheric fissure
    2. partially separated thalami and basal ganglia
    3. partially formed falx cerebri
  3. Lobar holoprosencephaly
    1. septum pellucidum absent
    2. some fusion of frontal cortices
    3. well-formed hemispheres and separated thalami and BG
    4. interhemispheric fissure and ventricles present
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13
Q

Familial Dysautonomia

  1. AKA
  2. Gene, chromosome, and protein
  3. inheritance
  4. Epidemiology note
  5. Features
    1. Autonomic features (5)
    2. Other (1)
A
  1. Riley-Day syndrome
  2. IKBKAP (9p31) > Elongator complex protein 1
  3. Autosomal recessive
  4. almost exclusively in Ashkanazi Jews
  5. Features
    1. autonomic dysfunction
      1. irregular heart rate
      2. digestion issues
      3. pupillary response issues
      4. lack of tears when crying
      5. Blood pressure / temperature instability
    2. Peripheral neuropathy
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14
Q

Sturge-Weber Syndrome

  1. Injeritance
  2. Mutation
  3. Symptoms
  4. CNS findings
A
  1. NOT HERITABLE
  2. GNA1 Gene
  3. Symptoms
    1. port wine stain
    2. capillary venous malformations
    3. Seizures
    4. risk of glaucoma (don’t confuse with risk of cataracts)
  4. CNS findings
    1. gyral calficications (“tram-track calcifications” from from angiomatosis of leptomeninges)
    2. Meningial angiomas
    3. hydrocephalus
    4. intracerebral parenchymal angiomas
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15
Q

Distinguishing features between Sturge-Weber and Klippel-Trenaunay syndrome

A

Klippel-Trenaunay syndrome:

  1. extensive cappilary malformations associated with dysplastic veins
  2. involve limbs and trunk
  3. often with hypertrophy of affected extremity
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16
Q

Genes associated with Fronto-temporal dementia and their respective chromosomes (6)

A
  1. MAPT (17): 5-10%
  2. GRN (17): 5-10%
  3. CHMP2B (3)
  4. VCP (9)
  5. DCTN1 (2)
  6. TARDBP (1)
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17
Q

Williams syndrome

  1. Defect
  2. Symptoms (7)
A
  1. Defect 7q11.23
  2. Symptoms
    1. elfin faces
    2. intellectual disability (often not severe)
    3. overly friendly / verbal
    4. aortic stenosis
    5. hypercalcemia
    6. sensorineuronal hearing loss
    7. hyperacussis
    8. diabetes mellitus
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18
Q

CNS findings in Septo-optic dysplasia (6)

A
  1. optic nerve hypoplasia
  2. pituitary endocrine dysfunction
  3. absent septum pellucidum
  4. absent sella
  5. dysgenesis of corpus cllosum
  6. schizencephalyolfactory tract hypoplasia
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19
Q

Porphyria Roundup: Gene and features

  1. Acute intermittent porphyria (AIP) (5)
  2. Hereditary coproporphyria (HCP) (one feature, one finding)
  3. Variegate porphyria (VP) (1)
A
  1. porphobilinogen deaminase (ch 11)
    1. acute attacks fo abdominal pain / nausea / vomiting, diarrhea,
    2. Fever
    3. tachycardia
    4. leukocytosis
    5. “belly full of scars”
  2. Hereditary coprophyria: Coproporhyrinogen oxidase
    1. more prominant skin manifestation
    2. markedly inccreased coproporphyrin III in urine / feces
  3. Variegate porphyria: protoporphyrinogen oxidase
    1. blistering cutaneous manifestations
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20
Q

Treatment for seizures in AIP (2) and big drug to avoid

A
  1. Clonazepam
  2. Gabapentin
  3. AVOID barbituates (many ASM’s can exacerbate attacks)
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21
Q

1st tier (lab) test for ID and ASD

A

molecular karyotyping (CMA)

Identifies 15-20% of cases

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22
Q

“gold standard” for detecting Micro deletions

A

FISH

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23
Q

CADASIL

  1. Full name
  2. Mutation and chromosome
  3. Features (5)
  4. MRI features
A
  1. Autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)
  2. NOTCH3 mutation on chromosome 19q12
  3. Symptoms
    1. Recurrent sub-cortical infarcts or TIA’s
    2. dementia
    3. migraines
    4. seizures
    5. psychiatric disorders or other behavioral changes
  4. MRI Findings
    1. Extensive white matter hyper-intensities on MRI
24
Q

Major (11) and Minor (9) features of Tuberous sclerosis

A

See figure

25
Q

Genes important to Spinal Muscular Atrophy

A
  1. SMN1 (chromosome 5) - generates most survival motor protein
  2. SMN2 (chromosome 5) - contains nucleotide substitution, and most mRNA transcripts of this gene spice out exon 7 > shortened copies of survival motor neuron proteins)
    1. Severity of disease is determined by the number of SMN2 that appear in an individual
26
Q

Most common causes for Genetic Hearing loss

  1. Mode of inheritance
  2. Mutation to know
A
  1. Inheritance
    1. Usually Autosomal Recessive (80%)
    2. some AD (15%)
    3. X-linked or mitochondrial (<1%)
  2. Gap-junction protein connexin 26 (GJB2 mutation)
27
Q

Main mutations in Tuberous sclerosis

What are they (2)
inheritance
one more note

A
  1. TS1 - 9q34 (hamartin)
  2. TSC - 16q13.3 (tuberin)

Both Autosomal dominant

Note: 50% = spontaneous mutation

28
Q

Mutation causing Cri du chat

Main features

  • “buzzword”
  • Dysmorphic features (5)
  • Other findings (4)
A

5p monosomy

  1. High-pitched cry
  2. moon-like faces
  3. low-set ears
  4. small jaw
  5. orbital hypertelorism
  6. microcephaly
  7. MR
  8. Hypotonia
  9. Low birth way
  10. heart defects
29
Q

More subtle features of Trisomy 21 (11)

  1. Things you could see on physical exam (9)
  2. Things you’d need imaging for (2)
A
  1. Things you’d see on physical Exam
    1. hypotonia
    2. hypoplasia of the midphalanx of 5th finger
    3. simian (transverse palmar) creases
    4. excess skin at nape of neck
    5. Joint hypermobility
    6. Brachycephaly
    7. Brachycephaly
    8. Brushfield spots
    9. Narrow Palate
  2. Things you’d need imaging for
    1. pelvic dysplasia
    2. atlantoaxial instability
30
Q

Two features of Usher Syndrome

A
  1. Hearing loss (2/2 inner ear abnormalities)
  2. Retinitis pigmentosa
31
Q

Pathogenesis behind adrenolekuodystrophy + epidemiology note

A

Defect in beta-oxidation leading to buildup of VLFA
most common Peroxisomal disorder

32
Q

Albanism

  1. Inheritance
  2. Deficient enzymes
  3. Symptoms (other than the obvious)
A
  1. Variable inheritance
  2. due to either tyrosinase mutation or defective tyrosine transporters (this pathway ultimately converts tyrosine to melanin)
  3. Symptoms
    1. nystagmus
    2. poor visual acuity
    3. (sometimes) strabismus
  4. Treatment
    1. Visual rehab
    2. +/- strabismus surgery
33
Q

MRi findings with Fragile X

A

Generalized cortical and cerebellar atrophy with increased T2 signal intensity

34
Q

Chromosomes associated with:

Parkinson’s disease

A

4 + 0 = 4, 4+2 = 6, 4+8=12

4 (PARK4)

6 (PARK2)

12 (PARK8)

35
Q

Chromosomes associated with:

VHL

A

Chromosome 3

36
Q

Chromosomes associated with:

CJD

A

chromosome 20 (protease resistant prionr protein)

37
Q

Chromomome associated with:

Wilsons disease

A

chromsome 13

38
Q

Chromosome associated with:

Tay sach’s

A

chromosome 15

39
Q

Chromosome associated with:

Huntington Disease

A

Chromosome 4

40
Q

Diseases with CAG repeats

(5) and chromosomes

A
  1. Huntingtons (4p16.3)
  2. Spinocerebellar ataxia I (6p22)
  3. DRPLA (12p)
  4. Spinobulbar musclar dystropy aka Kennedy’s disease (Xq21.3)
41
Q

X-linked Dominant disorder

(mnemonic)

A

D__ominant girls wear Cool BRAIDs and aren’t Fragile

CMT 1x
Sobcortical Band heterotopia
Rhett syndrome
Aicardi
Incontinentia Pigmenti
Pyruvate Dehydrogenase deficienncy

Fragile x and fragile-x associated tremor/ataxia syndrome

42
Q

Chromosome roundup:

1
3
4
5
6
12
13
14
15
19
20
21
X

A
  • 1: Alzheimers (early onset) Psen2
  • 3: VHL
  • 4: Huntington’s
  • 5: Cri du Chat
  • 6: Parksinsons disease (PARK2)
  • 12: Parkinsons (LRRK2)
  • 13: Wilson’s (ATP7B)
  • 14Alzheimer disease, early onset familial type (presinniln 1)
  • 15: Tay-sachs
  • 19: alzheimer disease, late onset (APOE4)
  • 20: Genetic CJD
  • 21: alzheimer disease, early onset familiail, amyloid precurspor protein
  • X: duchenne’s muscular dystrophy, fragile X, Lesch Nyhan
43
Q

Variants of Charcot Marie tooth
CMT 1
CMT 2
CMT X
CMT 4

A
  1. CMT 1a
  2. CMT 2a
  3. CMT 1x
    1. acute episodes of ataxia, dysarthria, and asymmetric weakness
    2. white matter changes in posterior fossa
  4. CMT 4c
44
Q

Histopatholic features of Neuronal ceroid lipofuscinosis

A

“cereal is made of curvy grain that absorbs milk, they really have their finger on what kids want”

Curvilinear bodies
Osmophilic granular deposits
Reticular deposits
Fingerprint bodies.

45
Q

Mnemonic for 8 “common” autosomal dominant disorders

A

“A very Brainy dwarf named MARF Von-hippel-landau hired MEN 2 hunt potatoes

  • Neurofibramatosis 1 + 2
  • Acondroplasia
  • Marfans
  • VHL
  • MEN1,2a,2b
  • huntington’s disease
  • tubersou sclerosis
46
Q

Mnemonic for X-linked Dominant disorders

A

“Dominant girls wear Xtremely Cool BRAIDs, and certainly aren’t fragile”

  • CMT1X
  • Subcortical Band heterotopia
  • Rhett
  • Aicardi
  • Incontinentia Pigmenti
  • Pyruvate Dehydrogenase deficiency
  • Fragile X / Fragile x accociated tremor / ataxia syndrome
47
Q

Mnemonic for HARTNUP disease and how to treat

A

H2A3RTN2UP

  • Hat needed (photosensitivity)
  • Hypotonia
  • Aminoaciduria
  • Ataxia
  • Altered mental status
  • Rash (photosensitivity)
  • Ttryptophan is deficient
  • Nicotinamide and Niacin are essentile
  • Urine and
  • Poop have increased neutral amino acids

Treat with high protein diet.

48
Q

Infant with seizures and lense dislocation

What is this disorder and what is causing the dislocation

A

Sulfatite Oxidase deficiency

Lense dislocation due to accumulation of s-sulfacysteine

49
Q

Mnemonic for leigh’s syndrome and treatment

A

Princess L2E2IGH2-A2

  1. ​L
    1. Lactic acidosis
    2. Lack of milestones
  2. E
    1. epilepsy
    2. extraocular movement abnormalities
  3. I
    1. increased signal in putamen
  4. G
    1. Gag/Vomit
  5. H
    1. Hypotonia
    2. Hyperventilation
  6. A
    1. Ataxia
    2. Apnea

Treat with ketogenic diet + supplementation of Lycine and leucine

50
Q

Differnce between Tauri’s and another disorder (3)

A

Tauri: similar to McArdles but

  1. No rise in lactate
  2. No second wind phenomenon
  3. more severe
51
Q

Mnemonic for Refsum disease

A

R2E2F2SUM

  • Rough skin (ichthiosis)
  • Retinitis Pigmentosa
  • Ears (deafness), Eyes (night-blindness)
  • Fytanic acid is incrased
  • Falls
  • Smell is lost
  • Unsteady gait
  • Myelin is lost
52
Q

Mnemonic for succinic semialdehyde deficiency (SSDH)

A

“the SS ADH sails across the Globe”

  • Seizures
  • Sassy behavior
  • Ataxia
  • Developmental delay
  • Hypotonia and 4-hydroxybutyric aciduria
  • Globus pallidus T2 signal increase
53
Q

Mnemonic for abetalipoproteinemia

A

AKA _BASSEN K_ornsweig syndrome, remember you nead More TP for the steatorrhea

  • B-apolipoprotein = deficient
  • Ataxia, Areflexia, Acanthosis, ADEK deficient due to…
  • Steatorrhea
  • Sensory loss (vibration/ proprioception), Spinocerebellar degeneration
  • Eye findings (pigmentary retinopathy)
  • Neuropathy
  • K also deficient

Defect in MTP transporter

54
Q

Mnemonic for Carbohydrate deficient glycoprotein syndrome 1A (CDG1)

A

“If you have fat above the bum, think CDG1, and treat with A2TKINS3

  • A
    • Abnormal fat distribution
    • Ataxia
  • T
    • Transferrin = deficient
  • K
    • Koagulopathy
  • I
    • inverted
  • N
    • Nipples
  • S
    • Seizures
    • Stroke-like-episodes
    • Strabismus
55
Q

Mnemonic: Cerebral Folate deficiency

A

3 - 4 - 5- 6 - 7

“By 3 years we saw vision problems, but symptoms started at 4 months (5 more symptoms), By 6 years she couldn’t hear”

  • Vision problems at 3
  • 4 months (onset)
  • 5
    • seizures
    • dyskinesia
    • cerebellar ataxia
    • microcephaly
    • Spasticticy
    • Increased CSF 5-methyltetrohydrofolate)
  • hearing lost by age 6
  • Treat with Folinic acid (7 letters)
56
Q

Mnemonic: Wolman disease

A

“Xavier, WOAH Man, Just Calm _D-D_own”

  • Xanthamatous changes to many organs
  • Weight loss
  • hypOtonia
  • Acid lipase and Adrenal insufficiency
  • HSM
  • Malabsorption
  • Jaundice
  • Calcified adrenals
  • Diarrhea / Developmental delay
57
Q

What is the interitance of the only CMT that causes axonal neuropathy?

A

Autosomal dominant (CMT2)

Peds neuro boards, V2 (29 decks)

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