Invention Grant
US09546402B2 Diagnosis of hereditary spastic paraplegias (HSP) by detection of a mutation in the KIAA1840 gene or protein
有权
通过检测KIAA1840基因或蛋白质中的突变来诊断遗传性痉挛性截瘫（HSP）
- Patent Title: Diagnosis of hereditary spastic paraplegias (HSP) by detection of a mutation in the KIAA1840 gene or protein
- Patent Title (中): 通过检测KIAA1840基因或蛋白质中的突变来诊断遗传性痉挛性截瘫（HSP）
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Application No.: US14206840Application Date: 2014-03-12
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Publication No.: US09546402B2Publication Date: 2017-01-17
- Inventor: Hamid Azzedine , Alexis Brice , Giovanni Stevanin , Filippo Santorelli , Paola Denora
- Applicant: Institute National de la Sante et de la Recherche Medicale (INSERM)
- Applicant Address: FR Paris
- Assignee: INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE (INSERM)
- Current Assignee: INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE (INSERM)
- Current Assignee Address: FR Paris
- Agency: Stites & Harbison, PLLC
- Agent B. Aaron Schulman, Esq.
- Main IPC: C07H21/04
- IPC: C07H21/04 ; C12Q1/68
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).
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