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Genetics > Neurocutaneous Disorders > Flashcards

Neurocutaneous Disorders Flashcards

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1
Q

Describe Tuberous Sclerosis Complex (TSC) (3)

A
  • affects cell differentiation, proliferation, migration early in dvp’ment
  • variety of hamartomatous lesions
  • every organ sys
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2
Q

TSC triad?

A
  1. Intractable epilepsy
  2. Mental retardation
  3. Adenoma sebaceum (red papules on face)
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3
Q

Genetic foci of TSC? (2)

A
  • chromo 9q34 (TSC 1)

- chromo 16p13 (TSC 2)

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4
Q

Proteins implicated in TSC? (2)

A
  • TSC 1 = hamartin (tumor suppressor)
  • TSC 2 = tuberin (tumor suppressor)
  • cooperate to regulate cell growth and differentiation
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5
Q

Phenotypic variability assoc w/ TSC?

A
  • 2nd hit phenomenon
  • flawed copy of a TSC gene by mutation, not enough to –> phenotype
  • normal allele gets 2nd hit
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6
Q

Biological hallmarks of TSC? (3)

A
  • cortical tubers (abnormal glial/neural elements)
  • subependymal nodules (SEN – obstruction/hydrocephalus)
  • subependymal giant cell astrocytomas (SEGA)
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7
Q

Skin lesions assoc w/ most TSC cases? (4)

A
  • hypomelanotic (Ash leaf) macules
  • thick subcutaneous tissue (shagreen patch)
  • periungual or gingival fibromas
  • adenoma sebaceum (face)
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8
Q

Heart defects assoc w/ TSC? (3)

A
  • rhabdomyomas
  • cardiac conducting sys
  • intracardiac mass @ birth
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9
Q

Other organ system defects assoc w/ TSC? (3)

A
  • renal cysts and angiomyolipomas
  • retinal astrocytomas
  • pulmonary cysts and lymphangioleiomyomatosis
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10
Q

Cognitive impairments assoc w/ TSC? (3)

A
  • earlier seizure onset
  • intractable seizures
  • infantile spasms
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11
Q

Hallmark feature of Neurofibromatosis 1 (NF1)?

A
  • cafe au lait spots
  • macular, regular border
  • usually 1st 2 yrs of life
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12
Q

Dermal assoc’s of NF1? (3)

A
  • skinfold freckling in 1st 5 yrs of life
  • cutaneous neurofibromas (not pre-malignant)
  • plexiform neurofibromas (could become malignant)
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13
Q

What are Lisch nodules pathognomonic of and where are they?

A
  • NF1

- found in iris

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14
Q

Describe optic pathway gliomas? What disease?

A
  • NF1
  • CNS tumor
  • astrocytomas
  • dx before age 6
  • decreased visual acuity, visual field defects
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15
Q

MRI lesions from NF1? (2)

A
  • UBOs = unID’d bright objects = hamartomas
  • better seen on T2 images
  • also sphenoid dysplasia or thinning of long bone cortex w/w/o pseudarthrosis
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16
Q

Inheritance pattern of NF1?

A
  • autosomal dominant
  • 50% of cases are sporadic/new mutations
  • chromo 17
17
Q

Inheritance pattern and hallmark feature of NF2?

A
  • autosomal dominant

- bilateral acoustic neuromas (CN8)

18
Q

Common examples of tri-nt disorders? (5)

A
  • Huntington disease
  • Fragile X
  • Kennedy disease
  • Myotonic dystrophy
  • Ataxia telangiectasia
19
Q

Presentation of HD? (4)

A
  • autosomal dominant
  • progressive chorea, rigidity, psych sx, and dementia
  • onset around 30-40 yrs
  • brain patho = neuronal death
20
Q

Role of 3-nt repeat in HD?

A
  • (CAG)n >40
  • higher # of repeats corr w/ earlier age of onset
  • more freq juvenile HD w/ paternal transmission
21
Q

Features of Fragile X syndrome? (2)

A
  • most common cause of inherited cognitive impairment

- mutation if >200 repeats (premutation @ 55-200 repeats)

22
Q

S/S of Fragile X premutation? (2)

A
  • assoc temor/ataxia syndrome (FXTAS) in men over 50

- premature ovarian failure in women

23
Q

S/s of Sturge-Weber?

A
  • sporadic, port-wine stain

- assoc w/ glaucoma and intracranial malformations

24
Q

Features of AT? (4)

A
  • autosomal recessive
  • loss of function mutation on chromo 11q22.3
  • AT Mutated gene (expressed in all tissues, stalls cell cycle progression to repair DNA damages)
  • heterozygotes have increased risk for breast cancer
25
Q

Clinical presentation of AT? (9)

A
  • progressive cerebellar ataxia (> 1 yo)
  • abnormal eye movements
  • neuro abnormalities
  • occulocutaneous telangiectasias
  • immune deficiency (IgG/IgA, poor titers to pneumococcus)
  • pulmonary disease
  • increased malignancy incidence
  • radiation (chemo) sensitivity
  • insulin resistance (DM)
26
Q

Features of Friedrich Ataxia? (5)

A
  • loss of function of frataxin gene on chromo 9q13
  • expanded GAA repeat in intron 1 of both alleles
  • 600-1200 repeats –> loss of protein
  • ongoing somatic expansion of repeats –> progression
  • mitochond protein –> defects in iron metabolism/storage
27
Q

Clinical criteria for Friedrich Ataxia? (5)

A
  • autosomal recessive
  • onset before 25 yo
  • ataxia of all 4 limbs
  • absence of lower limb reflexes
  • presence of pyramidal signs
28
Q

Organ sys defects assoc w/ FA?

A
  • cerebellar ataxia by 5yo
  • posterior column degeneration
  • pyramidal weakness
  • hypertrophic cardiomyopathy
  • overt DM or impaired glc tolerance

Genetics (8 decks)

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