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BMS > Huntington's Disease ICD > Flashcards

Huntington's Disease ICD Flashcards

1
Q

Caused by a trinucleotide repeat expansion located on the short arm of chromosome 4

A

Huntington’s Disease

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2
Q

Poly glutamine protein that forms aggregates leading to Huntington’s

A

Huntington Protein

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3
Q

What is the prevalence of Huntington’s in North America?

A

1/10,000

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4
Q

An autosomal dominant inheritance with almost 100% penetrance

A

Huntington’s

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5
Q

What is the clinical triad of Huntington’s?

A

Chorea, Dimentia, and psychiatric/behavioral disorder

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6
Q

Irregular, purposeless movements and writhing

A

Chorea

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7
Q

Individuals symptomatic for Huntington’s have an expansion of CAG repeats in the HD protein coding region of chromosome 4. How many repeats indicates Huntington’s?

A

Anything >39

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8
Q

Non-HD individuals have up to

A

36 CAG repeats

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9
Q

The HD gene is located on the short arm of chromosome 4 at position

A

16.2

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10
Q

The laboratory test for Huntington’s can be produced on any cell with a

A

Nucleus

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11
Q

What is the range of CAG repeats considered to be “asymtomatic but mutable?”

A

27-35 repeats

-Normal is 26

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12
Q

Protein partners of huntingtin have a role in
transcription regulation, intracellular trafficking
and

A

Cytoskeletal organization

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13
Q

Many huntingtin binding proteins have a role in

A

Endocytosis

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14
Q

Interacts with at least 70 known proteins

A

Huntingtin

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15
Q

Highly conserved protein that has a central role in cell function and broad subcellular distribution

A

Huntingtin

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16
Q

Associated with membrane compartments of synaptic vesicles, recycling endosomes

-There’s an abundance in the ER and Golgi

A

Huntingtin

17
Q

Normal Huntingtin has a role in membrane trafficking in the cytoplasm and in axonal transport. It is also found in the

A

Nucleus

18
Q

Rehearse the two potential outcomes with the patient prior to gene testing. Gene test results are always disclosed in person never by phone.

A

Presymptomatic Testing

19
Q

The major difficulty encountered with presymptomatic testing is

A

Anxiety

20
Q

Documented genetic counseling is required before you can get

A

Presymptomatic testing

21
Q

What is the wait time for the test results from Huntington’s?

A

2-4 weeks

22
Q

Prenatal and Preimplantation genetics allow a couple with at least one affected to have a child with a guarantee of

A

No Huntington’s

23
Q

How does the prenatal and preimplantation genetics work?

A

Produce fertilized eggs in vitro. Use PCR to identify CAG repeat numbers. Implant embryo with normal CAG repeat values

24
Q

Huntington’s Disease protein inhibits transcription of the normal Huntington gene. Normal Huntington’s protein is essential to cell survival, deficiency causes

A

Cell death

25
Q

Form insoluble aggregates in the nucleus and cause cells to die

A

Polyglutamine fragments

26
Q

Have been implicated by elevated lactate content in HD brains on MRI spectroscopy.

A

Mitochondrial Injury

27
Q

A naturally occurring biological pathway in which

small, double-stranded RNA molecules suppress gene expression in an exquisitely sequence-specific manner

A

RNA interference (RNAi)

28
Q

Exogenous manipulation of RNAi is being explored as a powerful method of silencing disease-causing genes in

A

Incurable neurological disorders

29
Q

Uses RNA-guided enzymes to snip out or add segments of DNA to a cell. Could be used to stop Huntington’s

A

CRISPR

30
Q

The drug, IONIS-HTTRx, is a so-called antisense drug
that inhibits the expression of the huntingtin gene and
therefore reduces the production of

A

Huntingtin

31
Q

Anti-sense drugs can not cross the

A

Blood-brain barrier

32
Q

What do anti-sense drugs do?

A

Block translation

33
Q

What are the issues that arise from genetic testing in HD?

A

Financial, Ethical, Legal, and Social (FELSI) issues

34
Q

Genetic testing of minors and fetuses, disclosure of testing information to family members at risk for disease, and potential misuse of genetic information by employers or insurance companies are examples of

A

FELSI

35
Q

Has been model disease to evaluate the
ethical, legal, financial and social issues
associated with adult onset genetic disease
testing.

A

Huntington’s

BMS (62 decks)

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