SCA15 due to large ITPR1 deletions in a cohort of 333 white families with dominant ataxia.

doi:10.1001/archneurol.2011.81

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Article

SCA15 due to large ITPR1 deletions in a cohort of 333 white families with dominant ataxia.

Archives of neurology - 1 May 2011

Marelli Cecilia, van de Leemput Joyce, Johnson Janel O, Tison Francois, Thauvin-Robinet Christel, Picard Fabienne, Tranchant Christine, Hernandez Dena G, Huttin Bernard, Boulliat Jacques, Sangla Iban, Marescaux Christian, Brique Serge, Dollfus Hélène, Arepalli Sampath, Benatru Isabelle, Ollagnon Elisabeth, Forlani Sylvie, Hardy John, Stevanin Giovanni, Dürr Alexandra, Singleton Andrew, Brice Alexis

Abstract excerpt

BACKGROUND: Deletions in ITPR1, coding for the inositol-triphosphate receptor type 1, have been recently identified in spinocerebellar ataxia type 15 (SCA15). OBJECTIVE: To determine the frequency and the phenotypical spectrum of SCA15. DESIGN: Taqman polymerase chain reaction (258 index cases) or single-nucleotide polymorphism genome-wide genotyping (75 index cases). SETTING: A collaboration between the Centre...

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PMID: 21555639
DOI: 10.1001/archneurol.2011.81
PMCID: PMC3142680

Genes

ITPR1

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SCA15 due to large ITPR1 deletions in a cohort of 333 white families with dominant ataxia.PMID 21555639Read ↗

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