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FXTAS: A progressive neurologic syndrome associated with fragile X premutation

✍ Scribed by Rob Willemsen; Edwin Mientjes; Ben A. Oostra


Book ID
107543457
Publisher
Springer
Year
2005
Tongue
English
Weight
780 KB
Volume
5
Category
Article
ISSN
1528-4042

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## Abstract ## Background Fragile X‐associated tremor/ataxia syndrome (FXTAS), which occurs in some premutation carriers of the fragile X mental retardation 1 (__FMR1__) gene, is a neurodegenerative disorder characterized by action tremor, gait ataxia, and impaired executive cognitive functioning.