Patent ID: 7998667

Claim:
A method for detecting an autosomal recessive parkinsonian syndrome in a symptomatic subject comprising analyzing a nucleic acid sample obtained from said subject for the presence of one or more heterozygous genetic alterations in a parkin gene comprising SEQ ID NO:1, wherein the presence of one or more heterozygous genetic alterations in said parkin gene indicates that said subject has an autosomal recessive parkinsonian syndrome, wherein said genetic alteration in said parkin gene comprises: a) a heterozygous deletion of any one of the following single exons or exon combinations: exons 2 and 3; exon 2; exons 2, 3 and 4; exon 3; exon 5; exons 3-6; exon 6; exons 6-7; exon 8; exons 7, 8, and 9; or exons 3-9; b) a heterozygous duplication of any one of exons 3, 6, 7 or 11, c) a heterozygous point mutation resulting in any one of the following amino acid changes: Gln34Arg; Asn52Met; Lys161Asn; Lys211Asn; Arg256Cys; Arg275Trp; Asp280Asn; Cys268Stop; Cys289Gly; Arg348Glu; Gly328Glu; or Gly430Asp, wherein said amino acid is encoded by SEQ ID NO:1, d) a heterozygous triplication of exon 2, or e) a combination of a)-d) thereof.