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Article

[Familial occurrence of FXTAS caused by premutation in the FMR1 gene].

Neurologia i neurochirurgia polska - 1 Jan 2000

Koziorowski Dariusz, Rajkiewicz Marta, Sułek-Piątkowska Anna, Zaremba Jacek, Kaca-Oryńska Małgorzata, Mandat Tomasz, Friedman Andrzej

Abstract excerpt

The FMR1 gene premutation has recently been reported to be associated with a neurodegenerative syndrome, characterized by intention tremor, gait ataxia and cognition deficits in persons older than 50 years. We present a 74-year-old man with very severe intention tremor, slight postural tremor and gait ataxia. The molecular analysis revealed that he was a carrier of 91 CGG repeats in the FMR1 gene. His sister (68...

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Source

Identifiers

PMID: 22102001
DOI: 10.1016/s0028-3843(14)60111-0

Genes

FMR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

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Research trail→

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[Familial occurrence of FXTAS caused by premutation in the FMR1 gene].PMID 22102001Read ↗

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

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

[Fragile X-associated tremor/ataxia syndrome].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 ↗

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

[Tremor/ataxia syndrome related to Fragile X premutation].Semantic proximity Read ↗

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

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Frequency of FMR1 Premutation Alleles in Patients with Undiagnosed Cerebellar Ataxia and Multiple System Atrophy in the Japanese Population.Semantic proximity Read ↗

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