Patent ID: 7824860
Filing Date: 2010-11-02
Classification: A61K,A61P,C07K,C12Q

Abstract:
1. A method for determining the presence of, or predisposition to early-onset spinocerebellar ataxia with ocular motor aprataxia and hypoalbuminemia in a human, comprising: a) contacting polynucleotides isolated from a biological sample obtained from the human with a polynucleotide probe which comprises all, or a portion of, the nucleotide sequence of SEQ ID NO:1 or SEQ ID NO:3 and wherein the polynucleotide probe comprises at least one mutation: a Cytosine to Thymidine substitution at nucleotide 95 in SEQ ID NO:1; an insertion of a Thymidine between nucleotides 167 and 168 of SEQ ID NO:1; a Thymidine to Guanine substitution at nucleotide 266 in SEQ ID NO:1; a deletion of a Thymidine at nucleotide 318 in SEQ ID NO:1; a Cytosine to Thymidine substitution at nucleotide 617 in SEQ ID NO:3; an insertion of a Thymidine between nucleotides 689 and 690 of SEQ ID NO:3; a Thymidine to Guanine substitution at nucleotide 788 in SEQ ID NO:3; or a deletion of a Thymidine at nucleotide 840 in SEQ ID NO:3; and b) assessing whether specific hybridization has occurred between the polynucleotides in the sample and the polynucleotide probe, wherein if specific hybridization has occurred between the polynucleotide probe and the sample polynucleotide, the human has or is predisposed to early-onset spinocerebellar ataxia with ocular motor aprataxia and hypoalbuminemia.