Patent · US Active

Diagnosis of hereditary spastic paraplegias (HSP) by detection of a mutation in the KIAA1840 gene or protein

US8728727B2 · kind B2 · utility

1Cited by

4References

16Claims

0Family size

Assignee

Institut National de la Sante et de la Recherche Medicale (INSERM) · FR

Inventors

Hamid Azzedine · Bagneux, FR
Alexis Brice · Paris, FR
Giovanni Stevanin · Sevran, FR
Filippo Santorelli · Napoli, IT
Paola Denora · Roma, IT

Key dates

Filing date	Aug 6, 2012
Grant date	May 20, 2014
Priority date	—
Expiry date	Aug 6, 2032

Classification

Technology area (CPC C)Chemistry; Metallurgy
CPC primaryC12Q2600/172
WIPO fieldBiotechnology
WIPO sectorChemistry

Abstract

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).

Source: USPTO / EPO open patent data. Objective bibliographic and citation counts.