Article
SYNE1 related cerebellar ataxia presents with variable phenotypes in a consanguineous family from Turkey.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 1 Dec 2017
Yucesan E, Ugur Iseri Sibel A, Bilgic B, Gormez Z, Bakir Gungor B, Sarac A, Ozdemir O, Sagiroglu M, Gurvit H, Hanagasi H, Ozbek U
Abstract excerpt
SYNE1 related autosomal recessive cerebellar ataxia type 1 (ARCA1) is a late-onset cerebellar ataxia with slow progression originally demonstrated in French-Canadian populations of Quebec, Canada. Nevertheless, recent studies on SYNE1 ataxia have conveyed the condition from a geographically limited pure cerebellar recessive ataxia to a complex multisystem phenotype that is relatively common on the global scale....
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