TY - JOUR
T1 - Patients with features similar to Huntington's disease, without CAG expansion in huntingtin
AU - Rosenblatt, Adam
AU - Ranen, N. G.
AU - Rubinsztein, D. C.
AU - Stine, O. C.
AU - Margolis, R. L.
AU - Wagster, M. V.
AU - Becher, M. W.
AU - Rosser, A. E.
AU - Leggo, J.
AU - Hodges, J. R.
AU - Ffrench-Constant, C. K.
AU - Sherr, M.
AU - Franz, M. L.
AU - Abbott, M. H.
AU - Ross, C. A.
PY - 1998/7
Y1 - 1998/7
N2 - 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.
AB - 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.
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U2 - 10.1212/WNL.51.1.215
DO - 10.1212/WNL.51.1.215
M3 - Article
C2 - 9674805
AN - SCOPUS:0031817038
SN - 0028-3878
VL - 51
SP - 215
EP - 220
JO - Neurology
JF - Neurology
IS - 1
ER -