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Letter

Nature Genetics 38, 184–190 (1 February 2006) | doi:10.1038/ng1728

Spectrin mutations cause spinocerebellar ataxia type 5

Yoshio Ikeda , Katherine A Dick , Marcy R Weatherspoon , Dan Gincel , Karen R Armbrust , Joline C Dalton , Giovanni Stevanin , Alexandra D|[uuml]|rr , Christine Z|[uuml]|hlke , Katrin B|[uuml]|rk , H Brent Clark , Alexis Brice , Jeffrey D Rothstein , Lawrence J Schut , John W Day & Laura P W Ranum

We have discovered that β-III spectrin (SPTBN2) mutations cause spinocerebellar ataxia type 5 (SCA5) in an 11-generation American kindred descended from President Lincoln's grandparents and two additional families. Two families have separate in-frame deletions of 39 and 15 bp, and a third family has a mutation in the actin/ARP1 binding region.