Patients with features similar to Huntington's disease, without CAG expansion in huntingtin

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:, 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

Full text not available from this repository. (Request a copy)


* 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: 23 Oct 2022 03:58
DOI: 10.1212/WNL.51.1.215

Actions (login required)

View Item View Item