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Rosenblatt, Adam, Ranen, N. G., Rubinsztein, D. C., Stine, O. C., Margolis, R. L., Wagster, M. V., Becher, M. W., Rosser, A. E., Leggo, J., Hodges, J. R., ffrench-Constant, C. K. 
ORCID: https://orcid.org/0000-0002-5621-3377, Sherr, M., Franz, M. L., Abbott, M. H. and Ross, C. A.
(1998)
Patients with features similar to Huntington's disease, without CAG expansion in huntingtin.
Neurology, 51 (1).
pp. 215-220.
ISSN 0028-3878
Abstract
* Objective: To describe characteristics of gene-negative patients with clinical features of Huntington's disease (HD), exploring likely etiologies. *Background: When a direct gene test became definitive for diagnosis of HD, we discovered a number of patients in our clinics in Baltimore, MD, and Cambridge, UK, believed or suspected to have HD who did not have the triplet repeat expansion. * Methods: Patients were examined using standardized instruments, and given full neurologic and psychiatric evaluations. Those negative for HD were tested for dentatorubro-pallidoluysian atrophy, SCA-1, SCA-3, SCA-2, SCA-6, and other conditions as indicated. * Results: Of 15 patients, 7 received specific diagnoses or appear to be sporadic cases, 4 have a possible but uncertain relation to HD, and 4 have unknown familial progressive movement disorders. * Conclusions: This last group of patients might be properly described as phenocopies of HD, some of which may be caused by unidentified triplet repeat expansions.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | clinical neurology ,/dk/atira/pure/subjectarea/asjc/2700/2728 |
| Faculty \ School: | Faculty of Medicine and Health Sciences > Norwich Medical School |
| Related URLs: | |
| Depositing User: | LivePure Connector |
| Date Deposited: | 16 Jul 2022 13:31 |
| Last Modified: | 25 Sep 2024 16:31 |
| URI: | https://ueaeprints.uea.ac.uk/id/eprint/86376 |
| DOI: | 10.1212/WNL.51.1.215 |
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