Parkinsonism, FXTAS, and FMR1 premutations

Mathias Toft; Jan Aasly; Gina Bisceglio; Charles H. Adler; Ryan J. Uitti; Anna Krygowska-Wajs; Timothy Lynch; Zbigniew K. Wszolek; Matthew J. Farrer

doi:10.1002/mds.20297

Parkinsonism, FXTAS, and FMR1 premutations

Mathias Toft, Jan Aasly, Gina Bisceglio, Charles H. Adler, Ryan J. Uitti, Anna Krygowska-Wajs, Timothy Lynch, Zbigniew K. Wszolek, Matthew J. Farrer

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

47 Scopus citations

Abstract

The presence of late-onset neurological symptoms in male carriers of premutation expansions of the fragile X mental retardation 1 (FMR1) gene has been described recently. One of the clinical symptoms in this fragile X-associated tremor/ataxia syndrome (FXTAS) is parkinsonism. To test the possible association between expanded FMR1 alleles and Parkinson's disease (PD), we determined the size of the FMR1 CGG repeat in 414 male cases of clinically diagnosed parkinsonism, the majority of whom had PD. None of our patients had expanded FMR1 repeats within the premutation range (55-200 CGG repeats). Five patients (1.2%) carry intermediate-size alleles (41-54 CGG repeats). Expansions within the FMR1 gene are not associated with PD in our study.

Original language	English (US)
Pages (from-to)	230-233
Number of pages	4
Journal	Movement Disorders
Volume	20
Issue number	2
DOIs	https://doi.org/10.1002/mds.20297
State	Published - Feb 2005

Keywords

Ataxia
Fragile X
Genetics
Parkinson's disease
Trinucleotide repeat

ASJC Scopus subject areas

Neurology
Clinical Neurology

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10.1002/mds.20297

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title = "Parkinsonism, FXTAS, and FMR1 premutations",

abstract = "The presence of late-onset neurological symptoms in male carriers of premutation expansions of the fragile X mental retardation 1 (FMR1) gene has been described recently. One of the clinical symptoms in this fragile X-associated tremor/ataxia syndrome (FXTAS) is parkinsonism. To test the possible association between expanded FMR1 alleles and Parkinson's disease (PD), we determined the size of the FMR1 CGG repeat in 414 male cases of clinically diagnosed parkinsonism, the majority of whom had PD. None of our patients had expanded FMR1 repeats within the premutation range (55-200 CGG repeats). Five patients (1.2%) carry intermediate-size alleles (41-54 CGG repeats). Expansions within the FMR1 gene are not associated with PD in our study.",

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AU - Toft, Mathias

AU - Aasly, Jan

AU - Bisceglio, Gina

AU - Adler, Charles H.

AU - Uitti, Ryan J.

AU - Krygowska-Wajs, Anna

AU - Lynch, Timothy

AU - Wszolek, Zbigniew K.

AU - Farrer, Matthew J.

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KW - Ataxia

KW - Fragile X

KW - Genetics

KW - Parkinson's disease

KW - Trinucleotide repeat

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Parkinsonism, FXTAS, and FMR1 premutations

Abstract

Keywords

ASJC Scopus subject areas

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