The patent badge is an abbreviated version of the USPTO patent document. The patent badge does contain a link to the full patent document.

The patent badge is an abbreviated version of the USPTO patent document. The patent badge covers the following: Patent number, Date patent was issued, Date patent was filed, Title of the patent, Applicant, Inventor, Assignee, Attorney firm, Primary examiner, Assistant examiner, CPCs, and Abstract. The patent badge does contain a link to the full patent document (in Adobe Acrobat format, aka pdf). To download or print any patent click here.

Date of Patent:
Jan. 17, 2017

Filed:

Mar. 12, 2014
Applicant:

Institute National DE LA Sante ET DE LA Recherche Medicale (Inserm), Paris, FR;

Inventors:

Hamid Azzedine, Bagneux, FR;

Alexis Brice, Paris, FR;

Giovanni Stevanin, Sevran, FR;

Filippo Santorelli, Naple, IT;

Paola Denora, Rome, IT;

Attorneys:
Primary Examiner:
Int. Cl.
CPC ...
C07H 21/04 (2006.01); C12Q 1/68 (2006.01);
U.S. Cl.
CPC ...
C12Q 1/6883 (2013.01); C12Q 2600/156 (2013.01); C12Q 2600/158 (2013.01); C12Q 2600/172 (2013.01);
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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