Huntington's disease (HD) is a late-onset degenerative disorder of the central nervous system, caused by a dominantly inherited mutation in a gene on chromosome 4p. The identification of the trinucleotide repeat mutation responsible for this disorder has been an important step towards understanding
Donepezil for Huntington's disease
β Scribed by Hubert H. Fernandez; Joseph H. Friedman; Janet Grace; Suzanne Beason-Hazen
- Publisher
- John Wiley and Sons
- Year
- 2000
- Tongue
- English
- Weight
- 209 KB
- Volume
- 15
- Category
- Article
- ISSN
- 0885-3185
No coin nor oath required. For personal study only.
β¦ Synopsis
jections 7 and single cell recording studies in putamen and pallidum of primates, 8 and also in humans during stereotaxic surgery. 9 Also, it is important in this differing topography that the changes in dopaminergic input into the striatum in Parkinson's disease affect the caudate and putamen in a topographically distinct fashion; the degree of dopamine depletion shows a rostrocaudal gradient. 10 We hypothesize that the more severe involvement of the face in our case may be explained by a more marked and widespread dopamine depletion in the striatum, particularly in the caudal segment of putamen where the orofacial region is represented. 9 Our report documents a severe form of off-period dystonia, and it also points out that this type of dystonia can be as disabling as biphasic dyskinesias which are often considered the most severe dyskinesias affecting patients with Parkinson's disease.
Legends to the Videotape
Segment 1: This segment demonstrates the patient's facial dystonia: severe spasms involved the lower face, especially the jaw. Also, dystonia affecting the feet, proximal leg, and left arm is evident. In more severe off-periods than depicted here, the patient's jaw could clench strong enough to cause dental fractures.
Segment 2: This segment demonstrates the relief of dystonia after using subcutaneous apomorphine.
π SIMILAR VOLUMES
## Abstract The authors report a patient with Huntington's disease (HD) presenting with severe chorea. The motor scale of the unified HD rating scale (UHDRSβI) revealed 81 points. Motor function clearly improved with zotepine, until she reached an UHDRSβI of 34 points on day 7 of treatment. The pat