Scientific article
English

FXTAS: new insights and the need for revised diagnostic criteria

Published inNeurology, vol. 79, no. 18, p. 1898-1907
Publication date2012
Abstract

Fragile X-associated tremor ataxia syndrome (FXTAS) is defined by FMR1 premutation, cerebellar ataxia, intentional tremor, and middle cerebellar peduncle (MCP) hyperintensities. We delineate the clinical, neurophysiologic, and morphologic characteristics of FXTAS.

Keywords
  • Adult
  • Aged
  • Ataxia/diagnosis/genetics/physiopathology
  • Female
  • Fragile X Syndrome/diagnosis/genetics/physiopathology
  • Humans
  • Male
  • Middle Aged
  • Neurology/standards
  • Parkinsonian Disorders/diagnosis/genetics/physiopathology
  • Peripheral Nervous System Diseases/diagnosis/genetics/physiopathology
  • Practice Guidelines as Topic/standards
  • Tremor/diagnosis/genetics/physiopathology
Citation (ISO format)
APARTIS, Emmanuelle et al. FXTAS: new insights and the need for revised diagnostic criteria. In: Neurology, 2012, vol. 79, n° 18, p. 1898–1907. doi: 10.1212/WNL.0b013e318271f7ff
Main files (1)
Article (Published version)
accessLevelRestricted
Identifiers
Journal ISSN0028-3878
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