Method of prognosing and diagnosing hereditary spastic paraplegia, mutant nucleic acid molecules and polypeptides

摘要

A method for diagnosing the presence of hereditary spastic paraplegia (HSP) or predicting the risk of developing HSP in a human subject, comprising detecting the presence or absence of a defect in a gene encoding a polypeptide comprising the sequence of FIG. 9 (SEQ ID NO: 19), in a nucleic acid sample of the subject, whereby the detection of the defect is indicative that the subject has or is at risk of developing HSP.

主权项

1. An isolated nucleic acid molecule comprising between 20 and 300 contiguous nucleotides of: (a) SEQ ID NO: 20; (b) SEQ ID NO: 22; (c) SEQ ID NO: 24; or (d) the complement of (a), (b) or (c), wherein the between 20 and 300 contiguous nucleotides comprise a nucleotide corresponding to position 2205 or 2186 relative to SEQ ID NO: 18, and wherein the isolated nucleic acid molecule is detectably labeled.