A 41-year-old member asked:
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Is Huntington's disease caused by a mutation?

1 doctor answer
Dr. Ilene Ruhoy
20 years experience in Neurology
Yes: HD is a truely dominantly inherited condition caused by an unstable expanded CAG trinucleotide repeat in exon 1 of the HD gene on chromosome 4.
Answered on Nov 28, 2017

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Related questions:

A 54-year-old member asked:
Dr. Maulik Shah
23 years experience in Clinical Genetics
Triplicate repeat: Hd falls into a category of genetic disorders where there is a genetic expansion. Within the genetic sequence, there is an area where the sequence ca ... Read More
A 53-year-old member asked:
Dr. Janice Wiesman
31 years experience in Neurology
HD gene: The abnormal gene is located on chromosome 4 and codes for a protein called huntingtin. This protein has many functions in the body and the way the a ... Read More
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A 37-year-old member asked:
Dr. Mark Fisher
33 years experience in Neurology
No. No one can.: We know that too many CAG repeats in the huntingtin gene causes HD, but the function of the gene is not yet known.
A 25-year-old female asked:
Dr. Scott Diede
28 years experience in Pediatric Hematology and Oncology
50:50: Here is a website with good information and references about huntington's disease: http://www.Ncbi.Nlm.Nih.Gov/books/nbk1305/.
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