DIAGNOSIS OF HEREDITARY SPASTIC PARAPLEGIAS (HSP) BY INDENTIFICATION OF A MUTATION IN THE KIAA1840 GENE OR PROTEIN

摘要

The invention relates to an ex vivo method of diagnosing or predicting an hereditary spastic paraplegias (HSP), in a subject, which method comprises detecting a mutation in the KIAA1840 gene or protein (spatacsin), wherein said mutation is indicative of. an hereditary spastic paraplegias (HSP).