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US 10,519,503 B2Granted
Diagnosis of hereditary spastic paraplegias (HSP) by detection of a mutation in the KIAA1840 gene or protein
AssigneeInstitut National De La Sante Et De La Recherche Medicale (Inserm)
InventorsHamid Azzedine, Alexis Brice, Giovanni Stevanin, Filippo Santorelli, Paola Denora
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Abstract
An ex vivo method of diagnosing or predicting an hereditary spastic paraplegias (HSP) in a subject is provided which comprises detecting a mutation in the KIAA1840 gene or protein (spatacsin), wherein that mutation is indicative of an hereditary spastic paraplegias (HSP).
Claims5
A nucleic acid probe comprising a fragment of KIAA1840 sequence or a complement thereof, wherein the KIAA1840 sequence has the sequence of SEQ ID NO:
- 1 except that the KIAA1840 sequence has a deletion of AT at positions 733-734 (KIAA1840 c.733-734delAT mutation), wherein the nucleic acid probe comprises the KIAA1840 c.733-734delAT mutation, wherein the nucleic acid probe is detectably labeled with a radiolabel, a fluorescent label, or an enzymatic label, and wherein the fragment of the KIAA1840 sequence is at least 25 nucleotides long.
Dependencies are inferred from the claim text.