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Peds neuro boards, V2 > Neuro-genetics > Flashcards

Neuro-genetics Flashcards

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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
Study These Flashcards
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

25
Genes important to Spinal Muscular Atrophy
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
Most common causes for Genetic Hearing loss 1. Mode of inheritance 2. Mutation to know
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
Main mutations in Tuberous sclerosis What are they (2) inheritance one more note
1. TS1 - 9q34 (hamartin) 2. TSC - 16q13.3 (tuberin) Both Autosomal dominant Note: 50% = spontaneous mutation
28
Mutation causing Cri du chat ## Footnote Main features - "buzzword" - Dysmorphic features (5) - Other findings (4)
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
More subtle features of Trisomy 21 (11) 1. Things you could see on physical exam (9) 2. Things you'd need imaging for (2)
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
Two features of Usher Syndrome
1. Hearing loss (2/2 inner ear abnormalities) 2. Retinitis pigmentosa
31
Pathogenesis behind adrenolekuodystrophy + epidemiology note
Defect in beta-oxidation leading to buildup of VLFA most common Peroxisomal disorder
32
Albanism 1. Inheritance 2. Deficient enzymes 3. Symptoms (other than the obvious)
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
MRi findings with Fragile X
Generalized cortical and cerebellar atrophy with increased T2 signal intensity
34
Chromosomes associated with: Parkinson's disease
4 + 0 = 4, 4+2 = 6, 4+8=12 4 (PARK4) 6 (PARK2) 12 (PARK8)
35
Chromosomes associated with: VHL
Chromosome 3
36
Chromosomes associated with: CJD
chromosome 20 (protease resistant prionr protein)
37
Chromomome associated with: Wilsons disease
chromsome 13
38
Chromosome associated with: Tay sach's
chromosome 15
39
Chromosome associated with: Huntington Disease
Chromosome 4
40
Diseases with CAG repeats (5) and chromosomes
1. Huntingtons (4p16.3) 2. Spinocerebellar ataxia I (6p22) 3. DRPLA (12p) 4. Spinobulbar musclar dystropy aka Kennedy's disease (Xq21.3)
41
X-linked Dominant disorder | (mnemonic)
_D__ominant_ girls wear **_C_**ool **_BRAID_**s and aren't _Fragile_ **_C_**MT 1x Sobcortical **_B_**and heterotopia **_R_**hett syndrome **_A_**icardi **_I_**ncontinentia Pigmenti Pyruvate **_D_**ehydrogenase deficienncy Fragile x and fragile-x associated tremor/ataxia syndrome
42
Chromosome roundup: 1 3 4 5 6 12 13 14 15 19 20 21 X
* 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
Variants of Charcot Marie tooth CMT 1 CMT 2 CMT X CMT 4
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
Histopatholic features of Neuronal ceroid lipofuscinosis
"cereal is made of _curvy grain_ that absorbs milk, they **_r_**eally have their _finger_ on what kids want" **_Curv_**ilinear bodies _Osmophilic granular_ deposits **_R_**eticular deposits **_Finger_**print bodies.
45
Mnemonic for 8 "common" autosomal dominant disorders
"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
Mnemonic for X-linked Dominant disorders
"Dominant girls wear **_X_**tremely **_C_**ool **_BRAID_**s, and certainly aren't _fragile_" * CMT1X * Subcortical **_B_**and heterotopia * **_R_**hett * **_A_**icardi * **_I_**ncontinentia Pigmenti * Pyruvate **_D_**ehydrogenase deficiency * **_F_**ragile X / Fragile x accociated tremor / ataxia syndrome
47
Mnemonic for HARTNUP disease and how to treat
H2A3RTN2UP * **_H_**at needed (photosensitivity) * **_H_**ypotonia * **_A_**minoaciduria * **_A_**taxia * **_A_**ltered mental status * **_R_**ash (photosensitivity) * **_T_**tryptophan is deficient * **_N_**icotinamide and **_N_**iacin are essentile * **_U_**rine and * **_P_**oop have increased neutral amino acids Treat with high protein diet.
48
Infant with seizures and lense dislocation What is this disorder and what is causing the dislocation
Sulfatite Oxidase deficiency Lense dislocation due to accumulation of s-sulfacysteine
49
Mnemonic for leigh's syndrome and treatment
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
Differnce between Tauri's and another disorder (3)
Tauri: similar to **McArdles** but 1. No rise in lactate 2. No second wind phenomenon 3. more severe
51
Mnemonic for Refsum disease
R2E2F2SUM * **_R_**ough skin (ichthiosis) * **_R_**etinitis Pigmentosa * **_E_**ars (deafness), **_E_**yes (night-blindness) * **_F_**ytanic acid is incrased * **_F_**alls * **_S_**mell is lost * **_U_**nsteady gait * **_M_**yelin is lost
52
Mnemonic for succinic semialdehyde deficiency (SSDH)
"the _SS ADH_ sails across the **_Glob_**e" * **_S_**eizures * **_S_**assy behavior * **_A_**taxia * **_D_**evelopmental delay * **_H_**ypotonia and 4-**_h_**ydroxybutyric aciduria * **_Glob_**us pallidus T2 signal increase
53
Mnemonic for abetalipoproteinemia
AKA _BASSEN K_ornsweig syndrome, remember you nead **_M_**ore _TP_ for the steatorrhea * _B_-apolipoprotein = deficient * **_A_**taxia, **_A_**reflexia, **_A_**canthosis, **_A_**DEK deficient due to... * **_S_**teatorrhea * **_S_**ensory loss (vibration/ proprioception), **_S_**pinocerebellar degeneration * **_E_**ye findings (pigmentary retinopathy) * **_N_**europathy * _K_ also deficient Defect in _MTP_ transporter
54
Mnemonic for Carbohydrate deficient glycoprotein syndrome 1A (CDG1)
"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
Mnemonic: Cerebral Folate deficiency
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
Mnemonic: Wolman disease
"**_X_**avier, _WOAH_ **_M_**an, **_J_**ust **_Cal_**m _D-D_own" * **_X_**anthamatous changes to many organs * **_W_**eight loss * hyp**_O_**tonia * **_A_**cid lipase and **_A_**drenal insufficiency * **_H_**SM * **_M_**alabsorption * **_J_**aundice * **_Cal_**cified adrenals * **_D_**iarrhea / **_D_**evelopmental delay
57
What is the interitance of the only CMT that causes _axonal_ neuropathy?
Autosomal dominant (CMT2)

Peds neuro boards, V2 (29 decks)

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