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SPG7 mutations are a common cause of undiagnosed ataxia

Lookup NU author(s): Dr Gerald Pfeffer, Dr Angela Pyle, Dr Helen GriffinORCiD, Valerie Wilson, Dr Lisa Turnbull, Gail Eglon, Professor Rita HorvathORCiD, Professor Patrick Chinnery

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Abstract

Late-onset ataxias are clinically and etiologically diverse. Patients rarely have defining clinical features, and many remain classified as idiopathic, despite extensive clinical, metabolic, and genetic investigations. Here we show that mutations in a gene known to cause hereditary spastic paraplegia (SPG7) are a major cause of unexplained ataxia presenting in mid-adult life.

Publication metadata

Author(s): Pfeffer G, Pyle A, Griffin H, Miller J, Wilson V, Turnbull L, Fawcett K, Sims D, Eglon G, Hadjivassiliou M, Horvath R, Nemeth A, Chinnery PF

Publication type: Editorial

Publication status: Published

Journal: Neurology

Year: 2015

Volume: 84

Issue: 11

Pages: 1174-1177

Print publication date: 17/03/2015

Online publication date: 13/02/2015

Acceptance date: 08/10/2014

ISSN (print): 0028-3878

ISSN (electronic): 1526-632X

Publisher: Lippincott Williams & Wilkins

URL: http://dx.doi.org/10.1212/WNL.0000000000001369

DOI: 10.1212/WNL.0000000000001369

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