Open AccessSCA15 Due to Large ITPR1 Deletions in a Cohort of 333 White Families With Dominant Ataxia
Author(s) -
Cécilia Marelli,
Joyce van de Leemput,
Janel O. Johnson,
François Tison,
Christel Thauvin-Robinet,
Fabienne Picard,
Christine Tranchant,
Dena G. Hernandez,
Bernard Huttin,
J Boulliat,
I Sangla,
Christian Marescaux,
Serge Brique,
Hélène Dollfus,
Sampath Arepalli,
Isabelle Bénatru,
Elisabeth Ollag,
Sylvie Forlani,
John Hardy,
Giovanni Stévanin,
Alexandra Dürr,
Andrew Singleton,
Alexis Brice
Publication year - 2011
Publication title -
archives of neurology
Language(s) - English
Resource type - Journals
eISSN - 1538-3687
pISSN - 0003-9942
DOI - 10.1001/archneurol.2011.81
Subject(s) - cerebellar ataxia , spinocerebellar ataxia , ataxia , cerebellum , phenotype , genetics , gait ataxia , medicine , biology , pathology , neuroscience , gene
Deletions in ITPR1, coding for the inositol-triphosphate receptor type 1, have been recently identified in spinocerebellar ataxia type 15 (SCA15).
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