Document Detail

[Familial occurrence of FXTAS caused by premutation in the FMR1 gene].
MedLine Citation:
PMID:  22102001     Owner:  NLM     Status:  In-Data-Review    
The FMR1 gene premutation has recently been reported to be associated with a neurodegenerative syndrome, characte-rized 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 years old), with head tremor, was found to be a carrier of 81 CGG repeats, while his younger brother, also with slight head and postural tremor, was a carrier of 98 CGG repeats. Molecular analysis of the proband's asymptomatic daughter revealed an expansion over 120 CGG. Her daughter, with mild intellectual disability, was a carrier of a full mutation. Thus, in the presented family with heterogeneous clinical presentation we found 4 premutations and one full mutation in the FMR1 gene.
Dariusz Koziorowski; Marta Rajkiewicz; Anna Sułek-Piątkowska; Jacek Zaremba; Małgorzata Kaca-Oryńska; Tomasz Mandat; Andrzej Friedman
Publication Detail:
Type:  English Abstract; Journal Article    
Journal Detail:
Title:  Neurologia i neurochirurgia polska     Volume:  45     ISSN:  0028-3843     ISO Abbreviation:  Neurol. Neurochir. Pol.     Publication Date:    2011 Jul-Aug
Date Detail:
Created Date:  2011-11-21     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0101265     Medline TA:  Neurol Neurochir Pol     Country:  Poland    
Other Details:
Languages:  pol     Pagination:  391-8     Citation Subset:  IM    
Dariusz Koziorowski, Klinika Neurologii WNoZ, Warszawski Uniwersytet Medyczny, ul. Kondratowicza 8, 03-242 Warszawa, tel./faks +48 22 326 58 15, e-mail:
Vernacular Title:
Rodzinne występowanie zespołu FXTAS powodowanego premutacją w genie FMR1.
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