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Article

Screening for premutation in the FMR1 gene in male patients suspected of spinocerebellar ataxia.

Neurologia i neurochirurgia polska - 1 Jan 2000

Rajkiewicz Marta, Sułek-Piatkowska Anna, Krysa Wioletta, Zdzienicka Elzbieta, Szirkowiec Walentyna, Zaremba Jacek

Abstract excerpt

BACKGROUND AND PURPOSE: The aim of this study was to determine the molecular basis of the disorder in patients suspected of spinocerebellar ataxias (SCAs) and search for premutation in the FMR1 gene causing FXTAS among patients in whom 9 SCA types were previously excluded. MATERIAL AND METHODS: DNA obtained from 1385 patients suspected of SCA and 516 controls were used for molecular tests. DNA analysis was...

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Source

Identifiers

PMID: 19235102

Genes

FMR1
ATN1
ATXN1
ATXN2
ATXN3
ATXN7
TBP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Screening for premutation in the FMR1 gene in male patients suspected of spinocerebellar ataxia.PMID 19235102Read ↗

FXTAS in spanish patients with ataxia: support for female FMR1 premutation screening.Semantic proximity Read ↗

Premutations in the FMR1 gene in Serbian patients with undetermined tremor, ataxia and parkinsonism.Semantic proximity Read ↗

Premutations in the FMR1 gene are uncommon in men undergoing genetic testing for spinocerebellar ataxia.Semantic proximity Read ↗

Screening for FMR-1 premutations in 122 older Flemish males presenting with ataxia.Semantic proximity Read ↗

[Fragile X tremor ataxia syndrome (FXTAS): a new kind of spinocerebelar ataxia associated to fragile X syndrome premutation carriers].Semantic proximity Read ↗

FXTAS is rare among Portuguese patients with movement disorders: FMR1 premutations may be associated with a wider spectrum of phenotypes.Semantic proximity Read ↗

FMR1 premutations associated with fragile X-associated tremor/ataxia syndrome in multiple system atrophy.Semantic proximity Read ↗

Carriage of One or Two FMR1 Premutation Alleles Seems to Have No Effect on Illness Severity in a FXTAS Female with an Autozygous FMR1 Premutation Allele.Semantic proximity Read ↗

Frequency of FMR1 premutation in individuals with ataxia and/or tremor and/or parkinsonism.Semantic proximity Read ↗

FMR1 gene premutation is a frequent genetic cause of late-onset sporadic cerebellar ataxia.Semantic proximity Read ↗

Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS): Pathophysiology and Clinical Implications.Semantic proximity Read ↗

Penetrance of the fragile X-associated tremor/ataxia syndrome in a premutation carrier population.Semantic proximity Read ↗

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