Huntington's Disease ICD

Question 1

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

Answer 1

Huntington’s Disease

Question 2

Poly glutamine protein that forms aggregates leading to Huntington’s

Answer 2

Huntington Protein

Question 3

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

Answer 3

1/10,000

Question 4

An autosomal dominant inheritance with almost 100% penetrance

Answer 4

Huntington’s

Question 5

What is the clinical triad of Huntington’s?

Answer 5

Chorea, Dimentia, and psychiatric/behavioral disorder

Question 6

Irregular, purposeless movements and writhing

Answer 6

Chorea

Question 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?

Answer 7

Anything >39

Question 8

Non-HD individuals have up to

Answer 8

36 CAG repeats

Question 9

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

Answer 9

16.2

Question 10

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

Answer 10

Nucleus

Question 11

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

Answer 11

27-35 repeats

-Normal is 26

Question 12

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

Answer 12

Cytoskeletal organization

Question 13

Many huntingtin binding proteins have a role in

Answer 13

Endocytosis

Question 14

Interacts with at least 70 known proteins

Answer 14

Huntingtin

Question 15

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

Answer 15

Huntingtin

Question 16

Associated with membrane compartments of synaptic vesicles, recycling endosomes

-There’s an abundance in the ER and Golgi

Answer 16

Huntingtin

Question 17

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

Answer 17

Nucleus

Question 18

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

Answer 18

Presymptomatic Testing

Question 19

The major difficulty encountered with presymptomatic testing is

Answer 19

Anxiety

Question 20

Documented genetic counseling is required before you can get

Answer 20

Presymptomatic testing

Question 21

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

Answer 21

2-4 weeks

Question 22

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

Answer 22

No Huntington’s

Question 23

How does the prenatal and preimplantation genetics work?

Answer 23

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

Question 24

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

Answer 24

Cell death

Question 25

Form insoluble aggregates in the nucleus and cause cells to die

Answer 25

Polyglutamine fragments

Question 26

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

Answer 26

Mitochondrial Injury

Question 27

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

Answer 27

RNA interference (RNAi)

Question 28

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

Answer 28

Incurable neurological disorders

Question 29

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

Answer 29

CRISPR

Question 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

Answer 30

Huntingtin

Question 31

Anti-sense drugs can not cross the

Answer 31

Blood-brain barrier

Question 32

What do anti-sense drugs do?

Answer 32

Block translation

Question 33

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

Answer 33

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

Question 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

Answer 34

FELSI

Question 35

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

Answer 35

Huntington's