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

Adam Rosenblatt, N. G. Ranen, D. C. Rubinsztein, O. C. Stine, Russell Louis Margolis, M. V. Wagster, M. W. Becher, A. E. Rosser, J. Leggo, J. R. Hodges, C. K. Ffrench-Constant, M. Sherr, M. L. Franz, M. H. Abbott, Christopher A Ross

Research output: Contribution to journalArticle

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.

Original languageEnglish (US)
Pages (from-to)215-220
Number of pages6
JournalNeurology
Volume51
Issue number1
StatePublished - Jul 1998

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Huntington Disease
Trinucleotide Repeats
Baltimore
Movement Disorders
Nervous System
Genes
Atrophy
Psychiatry

ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

Rosenblatt, A., Ranen, N. G., Rubinsztein, D. C., Stine, O. C., Margolis, R. L., Wagster, M. V., ... Ross, C. A. (1998). Patients with features similar to Huntington's disease, without CAG expansion in huntingtin. Neurology, 51(1), 215-220.

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, Russell Louis; Wagster, M. V.; Becher, M. W.; Rosser, A. E.; Leggo, J.; Hodges, J. R.; Ffrench-Constant, C. K.; Sherr, M.; Franz, M. L.; Abbott, M. H.; Ross, Christopher A.

In: Neurology, Vol. 51, No. 1, 07.1998, p. 215-220.

Research output: Contribution to journalArticle

Rosenblatt, A, Ranen, NG, Rubinsztein, DC, Stine, OC, Margolis, RL, Wagster, MV, Becher, MW, Rosser, AE, Leggo, J, Hodges, JR, Ffrench-Constant, CK, Sherr, M, Franz, ML, Abbott, MH & Ross, CA 1998, 'Patients with features similar to Huntington's disease, without CAG expansion in huntingtin', Neurology, vol. 51, no. 1, pp. 215-220.
Rosenblatt A, Ranen NG, Rubinsztein DC, Stine OC, Margolis RL, Wagster MV et al. Patients with features similar to Huntington's disease, without CAG expansion in huntingtin. Neurology. 1998 Jul;51(1):215-220.
Rosenblatt, Adam ; Ranen, N. G. ; Rubinsztein, D. C. ; Stine, O. C. ; Margolis, Russell Louis ; Wagster, M. V. ; Becher, M. W. ; Rosser, A. E. ; Leggo, J. ; Hodges, J. R. ; Ffrench-Constant, C. K. ; Sherr, M. ; Franz, M. L. ; Abbott, M. H. ; Ross, Christopher A. / Patients with features similar to Huntington's disease, without CAG expansion in huntingtin. In: Neurology. 1998 ; Vol. 51, No. 1. pp. 215-220.
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