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

26 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

@article{eb4808a1f77a4ef09f4025260df47ffa,

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

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.\}",

year = "1998",

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doi = "10.1212/WNL.51.1.215",

language = "English",

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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 - 1998/7/1

Y1 - 1998/7/1

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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VL - 51

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EP - 220

JO - Neurology

JF - Neurology

IS - 1

ER -

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

Abstract

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