Diagnosis of hereditary spastic paraplegias (HSP) by identification of a mutation in the ZFYVE26 gene or protein

US9522933B2 · kind B2 · utility

Assignee

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

Inventors

• Giovanni Stevanin · Sevran, FR
• Sylvain Hanein · Paris, FR
• Amir Boukhris · Paris, FR
• Cyril Goizet · Paris, FR
• Elodie Martin · Paris, FR
• Alexis Brice · Paris, FR

Key dates

• Filing date: Oct 31, 2012
• Grant date: Dec 20, 2016
• Expiry date: Oct 31, 2032

Classification

• Technology area (CPC G): Physics
• CPC primary: G01N2800/385
• WIPO field: Measurement
• WIPO sector: Instruments

Abstract

The Invention relates to an ex vivo method of diagnosing or predicting a hereditary spastic paraplegias (HSP), in a subject, which method comprises detecting a mutation in the ZFYVE26 gene or protein (spastizin), wherein said mutation is indicative of a hereditary spastic paraplegias (HSP).