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A novel de novo STXBP1 mutation is associated with mitochondrial complex I deficiency and late-onset juvenile-onset parkinsonism

Lookup NU author(s): Dr Michael Keogh, Daniyal Daud, Dr Angela Pyle, Dr Jennifer Duff, Dr Helen GriffinORCiD, Dr Langping He, Dr Charlotte Alston, Dr Hannah Steele, Dr Simon Taggart, Dr Anna BasuORCiD, Professor Robert Taylor, Professor Rita HorvathORCiD, Dr Vankateswara Ramesh, Professor Patrick Chinnery

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Abstract

Mutations in STXBP1 have recently been identified as a cause of infantile epileptic encephalopathy. The underlying mechanism of the disorder remains unclear and, recently, several case reports have described broad and progressive neurological phenotypes in addition to early-onset epilepsy. Herein, we describe a patient with early-onset epilepsy who subsequently developed a progressive neurological phenotype including parkinsonism in her early teens. A de novo mutation in STXBP1 (c.416C > T, p.(Pro139Leu)) was detected with exome sequencing together with profound impairment of complex I of the mitochondrial respiratory chain on muscle biopsy. These findings implicate a secondary impairment of mitochondrial function in the progressive nature of the disease phenotype.

Publication metadata

Author(s): Keogh MJ, Daud D, Pyle A, Duff J, Griffin H, He L, Alston CL, Steele H, Taggart S, Basu AP, Taylor RW, Horvath R, Ramesh V, Chinnery PF

Publication type: Article

Publication status: Published

Journal: Neurogenetics

Year: 2015

Volume: 16

Issue: 1

Pages: 65-67

Print publication date: 01/01/2015

Online publication date: 24/11/2014

Acceptance date: 28/10/2014

ISSN (print): 1364-6745

ISSN (electronic): 1364-6753

Publisher: Springer

URL: http://dx.doi.org/10.1007/s10048-014-0431-z

DOI: 10.1007/s10048-014-0431-z

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