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FXTAS: new insights and the need for revised diagnostic criteria

Apartis, Emmanuelle
Blancher, Anne
Meissner, Wassilios G
Guyant-Maréchal, Lucie
Maltête, David
De Broucker, Thomas
Legrand, André-Pierre
Bouzenada, Hichem
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Published in Neurology. 2012, vol. 79, no. 18, p. 1898-907
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 AdultAgedAtaxia/diagnosis/genetics/physiopathologyFemaleFragile X Syndrome/diagnosis/genetics/physiopathologyHumansMaleMiddle AgedNeurology/standardsParkinsonian Disorders/diagnosis/genetics/physiopathologyPeripheral Nervous System Diseases/diagnosis/genetics/physiopathologyPractice Guidelines as Topic/standardsTremor/diagnosis/genetics/physiopathology
PMID: 23077007
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Research group Maladie de Parkinson (911)
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APARTIS, Emmanuelle et al. FXTAS: new insights and the need for revised diagnostic criteria. In: Neurology, 2012, vol. 79, n° 18, p. 1898-907. doi: 10.1212/WNL.0b013e318271f7ff https://archive-ouverte.unige.ch/unige:33238

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Deposited on : 2014-01-14

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