Re: Autopsy-proven Huntington's disease with 29 trinucleotide repeats
β Scribed by Alicia Semaka; Simon Warby; Blair R. Leavitt; Michael R. Hayden
- Publisher
- John Wiley and Sons
- Year
- 2008
- Tongue
- English
- Weight
- 58 KB
- Volume
- 23
- Category
- Article
- ISSN
- 0885-3185
No coin nor oath required. For personal study only.
π SIMILAR VOLUMES
Huntington's disease (HD) is a neurodegenerative disorder associated with expansion of CAG trinucleotide repeats in the huntingtin gene. A minimum of 36 CAG repeats is usually reported in patients with clinical features of HD; 30 to 35 repeats represent an intermediate range. Here we report a 65-yea
Huntington's disease (HD) is a neurodegenerative and hereditary disease characterized by progressive movement disorders and mental and behavioral abnormalities. The HD gene is an expanding and unstable trinucleotide repeat (CAG repeat sequences). We studied 77 individuals from 38 families with HD in
## Abstract We describe and present a video of a patient with maternally inherited juvenile Huntington's disease (HD) caused by a very large (108βrepeat) expansion. Maternally transmitted very large trinucleotide repeats (>100) are extremely rare in juvenile HD and may represent instability during