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

Adam Rosenblatt; N. G. Ranen; D. C. Rubinsztein; O. C. Stine; R. L. 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; C. A. Ross

doi:10.1212/WNL.51.1.215

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

Adam Rosenblatt, N. G. Ranen, D. C. Rubinsztein, O. C. Stine, R. L. 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, C. A. Ross

Norwich Medical School

Research output: Contribution to journal › Article › peer-review

25 Citations (Scopus)

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 language	English
Pages (from-to)	215-220
Number of pages	6
Journal	Neurology
Volume	51
Issue number	1
DOIs	https://doi.org/10.1212/WNL.51.1.215
Publication status	Published - 1 Jul 1998

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Rosenblatt, A., 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., Sherr, M., Franz, M. L., Abbott, M. H., & Ross, C. A. (1998). Patients with features similar to Huntington's disease, without CAG expansion in huntingtin. Neurology, 51(1), 215-220. https://doi.org/10.1212/WNL.51.1.215

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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.",

author = "Adam Rosenblatt and Ranen, {N. G.} and Rubinsztein, {D. C.} and Stine, {O. C.} and Margolis, {R. L.} and Wagster, {M. V.} and Becher, {M. W.} and Rosser, {A. E.} and J. Leggo and Hodges, {J. R.} and ffrench-Constant, {C. K.} and M. Sherr and Franz, {M. L.} and Abbott, {M. H.} and Ross, {C. A.}",

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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 - 1998/7/1

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

Abstract

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