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Flashcards in Huntington's Disease ICD Deck (35):
1

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

Huntington's Disease

2

Poly glutamine protein that forms aggregates leading to Huntington's

Huntington Protein

3

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

1/10,000

4

An autosomal dominant inheritance with almost 100% penetrance

Huntington's

5

What is the clinical triad of Huntington's?

Chorea, Dimentia, and psychiatric/behavioral disorder

6

Irregular, purposeless movements and writhing

Chorea

7

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?

Anything >39

8

Non-HD individuals have up to

36 CAG repeats

9

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

16.2

10

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

Nucleus

11

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

27-35 repeats

-Normal is 26

12

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

Cytoskeletal organization

13

Many huntingtin binding proteins have a role in

Endocytosis

14

Interacts with at least 70 known proteins

Huntingtin

15

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

Huntingtin

16

Associated with membrane compartments of synaptic vesicles, recycling endosomes

-There's an abundance in the ER and Golgi

Huntingtin

17

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

Nucleus

18

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

Presymptomatic Testing

19

The major difficulty encountered with presymptomatic testing is

Anxiety

20

Documented genetic counseling is required before you can get

Presymptomatic testing

21

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

2-4 weeks

22

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

No Huntington's

23

How does the prenatal and preimplantation genetics work?

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

24

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

Cell death

25

Form insoluble aggregates in the nucleus and cause cells to die

Polyglutamine fragments

26

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

Mitochondrial Injury

27

A naturally occurring biological pathway in which
small, double-stranded RNA molecules suppress gene expression in an exquisitely sequence-specific manner

RNA interference (RNAi)

28

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

Incurable neurological disorders

29

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

CRISPR

30

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

Huntingtin

31

Anti-sense drugs can not cross the

Blood-brain barrier

32

What do anti-sense drugs do?

Block translation

33

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

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

34

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

FELSI

35

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

Huntington's

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