FMR1 gene premutation is a frequent genetic cause of late-onset sporadic cerebellar ataxia

A. Brussino; C. Gellera; A. Saluto; C. Mariotti; C. Arduino; B. Castellotti; M. Camerlingo; V. De Angelis; L. Orsi; P. Tosca; N. Migone; F. Taroni; A. Brusco

FMR1 gene premutation is a frequent genetic cause of late-onset sporadic cerebellar ataxia

A. Brussino, C. Gellera, A. Saluto, C. Mariotti, C. Arduino, B. Castellotti, M. Camerlingo, V. De Angelis, L. Orsi, P. Tosca, N. Migone, F. Taroni, A. Brusco

Fondazione IRCCS Istituto Neurologico "C. Besta"

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

Abstract

In an Italian population of 275 unrelated men affected by adult-onset sporadic progressive cerebellar ataxia, the authors found six patients carrying an FMR1 gene premutation. Age at onset (range, 53 to 69 years) and clinical-neuropathologic findings were consistent with the fragile-X tremor ataxia syndrome (FXTAS), although tremor was not as common as previously described. FXTAS accounted for 4.2% of the cases diagnosed at >50 years, suggesting that it is a frequent genetic cause of late-onset sporadic ataxia.

Original language	English
Pages (from-to)	145-147
Number of pages	3
Journal	Neurology
Volume	64
Issue number	1
Publication status	Published - Jan 11 2005

ASJC Scopus subject areas

Neuroscience(all)

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FMR1 gene premutation is a frequent genetic cause of late-onset sporadic cerebellar ataxia. / Brussino, A.; Gellera, C.; Saluto, A.; Mariotti, C.; Arduino, C.; Castellotti, B.; Camerlingo, M.; De Angelis, V.; Orsi, L.; Tosca, P.; Migone, N.; Taroni, F.; Brusco, A.

In: Neurology, Vol. 64, No. 1, 11.01.2005, p. 145-147.

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

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abstract = "In an Italian population of 275 unrelated men affected by adult-onset sporadic progressive cerebellar ataxia, the authors found six patients carrying an FMR1 gene premutation. Age at onset (range, 53 to 69 years) and clinical-neuropathologic findings were consistent with the fragile-X tremor ataxia syndrome (FXTAS), although tremor was not as common as previously described. FXTAS accounted for 4.2% of the cases diagnosed at >50 years, suggesting that it is a frequent genetic cause of late-onset sporadic ataxia.",

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AU - Brussino, A.

AU - Gellera, C.

AU - Saluto, A.

AU - Mariotti, C.

AU - Arduino, C.

AU - Castellotti, B.

AU - Camerlingo, M.

AU - De Angelis, V.

AU - Orsi, L.

AU - Tosca, P.

AU - Migone, N.

AU - Taroni, F.

AU - Brusco, A.

PY - 2005/1/11

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N2 - In an Italian population of 275 unrelated men affected by adult-onset sporadic progressive cerebellar ataxia, the authors found six patients carrying an FMR1 gene premutation. Age at onset (range, 53 to 69 years) and clinical-neuropathologic findings were consistent with the fragile-X tremor ataxia syndrome (FXTAS), although tremor was not as common as previously described. FXTAS accounted for 4.2% of the cases diagnosed at >50 years, suggesting that it is a frequent genetic cause of late-onset sporadic ataxia.

AB - In an Italian population of 275 unrelated men affected by adult-onset sporadic progressive cerebellar ataxia, the authors found six patients carrying an FMR1 gene premutation. Age at onset (range, 53 to 69 years) and clinical-neuropathologic findings were consistent with the fragile-X tremor ataxia syndrome (FXTAS), although tremor was not as common as previously described. FXTAS accounted for 4.2% of the cases diagnosed at >50 years, suggesting that it is a frequent genetic cause of late-onset sporadic ataxia.

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FMR1 gene premutation is a frequent genetic cause of late-onset sporadic cerebellar ataxia

Abstract

ASJC Scopus subject areas

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