Patent ID: 6924126

Claim:
A method for genotypic diagnosis of AD-HSP associated with the presence of at least one mutation on a sequence of the human SPG4 gene, comprising the steps of: a) obtaining a biological sample from a patient, b) where appropriate, isolation of the genomic DNA from the biological sample to be analyzed, or production of cDNA from the RNA of the biological sample; c) specific amplification of said DNA sequence of the human SPG4 gene likely to contain a mutation, using primers comprising a sequence selected from the group consisting of SEQ ID NO:1, at least 15 consecutive nucleotides of SEQ ID NO:1 and, a sequence complementary to SEQ ID NO:1; d) analysis of the amplification products obtained and comparison of their sequence with the corresponding normal sequence of the human SPG4 gene, wherein, if the amplification products comprise a sequence associated with the presence of at least one mutation in a sequence of the human SPG4 gene, AD-HSP is diagnosed in the patient.