Patent ID: 7655401
Filing Date: 2010-02-02
Classification: C12Q

Abstract:
1. A method of screening for a genetic mutation that is associated with adult onset cerebellar ataxia in a human subject, said method comprising: (a) determining a first nucleic acid sequence of a human protein kinase C gamma gene from a first human subject exhibiting adult onset cerebellar ataxia; (b) comparing the first nucleic acid sequence to SEQ ID NO:3 to identify a difference between the first nucleic acid sequence from the first human subject exhibiting adult onset cerebellar ataxia and SEQ ID NO:3, wherein the difference alters the amino acid sequence encoded by the human protein kinase C gamma gene; and (c) performing co-segregation analysis to determine whether the difference identified between the first nucleic acid sequence and SEQ ID NO:3 is a genetic mutation associated with adult onset cerebellar ataxia.