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Neuro 2 Final > Genetics > Flashcards

Genetics Flashcards

1
Q
  • Cafe-au-lait spots (1st clinical feature)
  • Lisch nodules (pigmented iris hamartomas)
  • Freckling
  • Peripheral neurofibromas
  • Optic gliomas
  • Pheochromocytomas
  • Autosomal dominant, 100% penetrance, variable expressivity
  • Mutated NF1 (neurofibromin – negative regulator of RAS)
  • Chr 17
A

Neurofibromatosis type 1

von Recklinghausen dz

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2
Q
  • Type of neurofibroma affecting multiple branches of large nerves
  • One of the MC causes of morbidity in NF1
  • May invade adjacent structures and impinge on organs
A

Plexiform neurofibromatosis

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3
Q
  • Bilateral vestibular schwannomas * (early hearing loss w/ tinnitus or vertigo *)
  • Juvenile cataracts *
  • Cafe-au-lait spots
  • Peripheral nerve tumors
  • Less common than NF1
  • Later age of onset (age 18–24)
  • Meningiomas (severe form), ependymomas
  • Autosomal dominant , almost complete penetrance by age 60
  • Mutated NF2 (merlin)
  • Chr 22
A

Neurofibromatosis type 2

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4
Q
  • HGPRT deficiency
  • X-linked (mostly seen in males)
  • Sx @ 3-6 months (orange-colored urate crystals in diaper *)
  • Hyperreflexia and spasticity of legs
  • Hyperuricemia&raquo_space; gout
  • Self-mutilation * – biting/chewing finger tips, lips and buccal mucosa
A

Lesch-Nyhan syndrome

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5
Q

List 2 triplet repeat disorders.

A
  • Fragile X syndrome

- Huntington Disease

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6
Q

Triplet repeat disorders, like Fragile X and Huntington’s, are explained via what DNA model?

A

DNA polymerase slippage model

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7
Q

What is the repeat in Fragile X

How many repeats are seen in Fragile X?

A
  • CGG

- Dz range = 200+

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8
Q

What is the repeat in Huntington Dz?

How many repeats are seen in HD?

A
  • CAG

- Dz range = 37-121

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9
Q
  • X-linked
  • Mutated FMR1 gene
  • Trinucleotide repeat = CGG *
  • Enlarged testes *
  • Long face w/ large jaw *
  • Large ears
  • Delayed motor development
  • Females with full mutation in one allele have variable presentations because of lyonization
A

Fragile X syndrome

“eXtra large tests, jaw, ears.”

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10
Q
  • Trinucleotide repeat: CAG * (aggregates of poly-glutamine (polyQ))
  • Chr 4
  • Genetic anticipation * (triplet expansion&raquo_space; earlier onset/more severe sx)
  • Depression
  • Dementia *
  • Chorea *
  • Rigidity
A

Huntington Disease

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11
Q

What are 3 areas directly affected by mutated Huntingtin protein?

A
  • Cerebellum
  • Cortex
  • Striatum (caudate, putamen, NAc severely atrophied)
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12
Q

What is the fundamental unit of sphingolipids?

A

Ceramide

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13
Q

What is the most complex group of sphingoglycolipids?

A

Gangliosides

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14
Q

What are the 2 diseases assoc w/ gangliosides?

A
  • Tay-Sachs dz

- Sandhoff dz

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15
Q

What are the 4 diseases assoc w/ sphingolipids?

A
  • Krabbe dz
  • Fabry dz
  • Gaucher dz
  • Niemann-Pick dz
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16
Q

What are the 3 diseases assoc w/ mucopolysaccharides?

A
  • MPS I – Hurler
  • MPS II – Hunter
  • MPS III – Sanfilippo
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17
Q
  • Hexosaminidase A (HEXA) deficiency *
  • Accumulation of GM2 ganglioside *
  • “Cherry-red” macula *
  • Neurodegeneration
  • Developmental delay
  • More common in Ashkenazi Jewish populations
A

Tay-Sachs disease

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18
Q
  • Clinically indeterminable from Tay-Sachs dz
  • HEXB mutation *
  • Optic atrophy
  • Seizures
  • Spasticity
A

Sandhoff disease

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19
Q
  • Galactocerebrosidase deficiency
  • Accumulation of galactocerebroside
  • Developmental delay
  • Peripheral neuropathy
  • Optic atrophy (blindness)
  • Globoid cells
A

Krabbe disease

20
Q
  • Alpha-galactosidase A deficiency
  • Accumulation of Ceramide trihexoside
  • X-linked recessive *
  • Angiokeratomas
  • Cardiovascular dz
  • Peripheral neuropathy in hands/feet
  • Renal dz
A

Fabry disease

21
Q
  • Glucocerebrosidase (Beta-glucosidase) deficiency
  • Accumulation of glucocerebroside
  • Lipid-laden macrophages resembling crumpled up paper
  • Hepatosplenomegaly
  • Bone crises
  • Aseptic necrosis of femur
  • Erlenmeyer flask deformity
  • Pancytopenia (&raquo_space; anemia)
  • MC lysosomal storage dz (sphingolipidoses)
A

Gaucher disease

22
Q
  • Sphingomyelinase deficiency *
  • Accumulation of sphingomyelin
  • “Cherry-red” macula *
  • Hepatosplenomegaly (liver dz)
  • Neurodegeneration (dementia)
  • Foam cells (lipid-laden macrophages) *
  • Increase prevalence in Jewish populations
  • Pulmonary infiltrates
A

Niemann-Pick disease

23
Q
  • Autosomal recessive
  • Most severe of MPS
  • Alpha-L-iduronidase
  • Accumulation of heparan sulfate AND dermatan sulfate
  • Gargoylism * (coarse facies)
  • Airway obstruction *
  • Corneal clouding *
  • Developmental delay
  • Hepatosplenomegaly
  • Death by age 10
A

Hurler syndrome

MPS I

24
Q
  • X-linked recessive *
  • Iduronate sulfatase deficiency *
  • Accumulation of heparan sulfate AND dermatan sulfate
  • Mild Hurler + aggressive behavior
  • NO corneal clouding *
  • Protruding tongue
  • Clubbing of all fingers
  • Left-sided inguinal hernias
  • Death by age 15
A

Hunter syndrome

MPS II

25
Q

Which MPS type has an accumulation of ONLY heparan sulfate?

A

Sanfilippo (MPS IIIA-D)

26
Q
  • Milder form of Hurler syndrome (same allele)
  • Normal intelligence
  • Possible to see compound heterozygote
A

Scheie syndrome

27
Q
  • Intellectual and behavioral problems evident before physical changes
  • Severe CNS degeneration w/ progressive neuro dz
  • Results from 1 of 4 enzyme mutations
A

Sanfilippo syndrome (MPS IIIA-D)

28
Q
  • MC neurodegenerative dz
  • Amyloid plaques
  • Neurofibrillary tangles
  • Oxidative stress
  • Gross cerebral cortical atrophy
A

Alzheimer disease

29
Q

Name the gene, protein, and proportion with EOFAD assoc w/ AD3.

A 
Gene = PS1
Protein = Presenilin 1 (gamma-secretase protein)
EOFAD = 20-70%
30
Q

Name the gene, protein, and proportion with EOFAD assoc w/ AD1.

A 
Gene = APP
Protein = Amyloid-beta precursor protein
EOFAD = 10-15%

Assoc w/ Trisomy 21 as well.

31
Q

Name the gene, protein, and proportion with EOFAD assoc w/ AD4.

A 
Gene = PS2
Protein = Presenilin 2 (gamma-secretase protein)
EOFAD = Rare
32
Q

EOFAD show mutations in what two proteins (or protein complexes)?

A
  • APP

- Gamma-secretase (PS1, PS2, Nicastrin, APH1)

33
Q

Which amyloid-beta subtype is toxic – 40 or 42?

A

42 = toxic

34
Q

If the APP protein is cleaved at Beta-secretase, what are the 3 products?

A
  • Amyloid-beta 40
  • Amyloid-beta 42 (toxic)
  • APP-ICD
35
Q

If the APP protein is cleaved at Alpha-secretase, what are the 2 products?

A
  • P3 (non-toxic)

- APP-ICD

36
Q

What is the predominant apolipoprotein in the brain?

A

ApoE

37
Q

What ApoE genotype is most at risk for Alzheimer dz at an earlier age?

A

E4/E4

E4 is also a risk factor for:

  • Atherosclerosis
  • HIV progression
  • Other neuro disorders
38
Q

Which ApoE genotype is considered to be protective?

A

E2

Therefore, E2/E2 would have the least risk for developing AD.

39
Q

Give the order of alleles in terms of their symptoms.

A

E4 > E3 > E2

Most toxic&raquo_space; Most protective

40
Q

Neurofibrillary tangles occur from what procesS?

A

Hyper-phosphorylation of tau protein

41
Q

Inflammation can cause oxidative damage. What cells function to clear amyloid-beta?

A

Microglia

42
Q

What is the major source of reactive oxygen species (ROS) in CNS?

A

Mitochondria

43
Q

What are the 2 products of mitochondrial oxidative stress?

A
  • Peroxynitrite (O2- reacts with NO and MnSOD to form peroxynitrites)
  • Super oxide
44
Q

In AD, there’s an increase in the number of mutations in what organelle?
The mutations cause increased dysfunction and lead to what?

A
  • Mitochondria

- Apoptosis

45
Q

What activates inflammation in the brain?

A

Amyloid-beta

46
Q

Systemic inflammation is characterized by an increase in what 3 cytokines?

A
  • C-reactive protein
  • TNFa
  • IL-6
47
Q

Increased TNFa and IL-6 cause a behavioral response known as what?

A

Sickness behavior

  • Increased anxiety
  • Depression
  • Apathy

Neuro 2 Final (5 decks)

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