Patent · US Active

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

US10519503B2 · kind B2 · utility

0Cited by

1References

5Claims

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	Dec 21, 2016
Grant date	Dec 31, 2019
Priority date	—
Expiry date	Dec 21, 2036

Classification

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

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).

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