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Article

[Natural history of adult-onset eIF2B-related disorders: a multicentric survey of 24 cases].

Revue neurologique - 1 Nov 2011

Carra-Dalliere C, Horzinski L, Ayrignac X, Vukusic S, Rodriguez D, Mauguiere F, Peter L, Goizet C, Bouhour F, Denier C, Confavreux C, Obadia M, Blanc F, de Seze J, Sedel F, Guennoc A-M, Sartori E, Laplaud D, Antoine J-C, Fogli A, Boespflug-Tanguy O, Labauge P

Abstract excerpt

INTRODUCTION: The childhood ataxia with central nervous system hypomyelination-vanishing white matter syndrome (CACH-VWM) was first characterized in children (2-5 years) on clinical and MRI criteria: cerebellospastic signs associated with episodes of rapid deterioration following stress and extensive cavitatingleucoencephalopathy. Causative mutations were found in the five genes encoding the subunits of the...

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PMID: 21676421
DOI: 10.1016/j.neurol.2011.03.008

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