SQSTM1 mutations in French patients with frontotemporal dementia or frontotemporal dementia with amyotrophic lateral sclerosis.

There is no author summary for this article yet. Authors can add summaries to their articles on ScienceOpen to make them more accessible to a non-specialist audience.

Abstract

Mutations in the SQSTM1 gene, coding for p62, are a cause of Paget disease of bone and amyotrophic lateral sclerosis (ALS). Recently, SQSTM1 mutations were confirmed in ALS, and mutations were also identified in 3 patients with frontotemporal dementia (FTD), suggesting a role for SQSTM1 in FTD.

Related collections

Author and article information

Journal

Journal ID (iso-abbrev): JAMA Neurol

Title: JAMA neurology

Publisher: American Medical Association (AMA)

ISSN (Electronic): 2168-6157

ISSN (Print): 2168-6149

Publication date (Electronic): Nov 2013

Volume: 70

Issue: 11

Affiliations

[1 ] INSERM, UMR_S975, Centre de Recherche de l'Institut du Cerveau et de la Moelle Epinière, Hôpital de la Salpêtrière, F-75013, Paris, France2Université Pierre Marie Curie-Paris 06, UMR_S975, F-75013, Paris, France3Centre national de la recherche scientifique, UMR 7225, F-75013, Paris, France4AP-HP, Hôpital de la Pitié-Salpêtrière, Centre de Référence des Démences Rares, Paris, France5AP-HP, Hôpital de la Pitié-Salpêtrière, Département des maladies du système nerveux, Paris, France.

Article

Publisher Item ID: 1738444 Mid ID: EMS58037

DOI: 10.1001/jamaneurol.2013.3849

PMC ID: 4199096

PubMed ID: 24042580

SO-VID: fda085d8-36bc-422a-a286-a76c116aa2e1

History

Data availability:

Comments

Comment on this article

scite_

Cited by 65

See all cited by

- Version 1
- Version 1