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Adult-onset spinocerebellar ataxia syndromes due to MTATP6 mutations

Lookup NU author(s): Dr Gerald Pfeffer, Dr Charlotte Alston, Dr Adam Hassani, Professor Rita HorvathORCiD, Professor David Samuels, Professor Robert Taylor, Professor Patrick Chinnery

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Abstract

Background Spinocerebellar ataxia syndromes presenting in adulthood have a broad range of causes, and despite extensive investigation remain undiagnosed in up to similar to 50% cases. Mutations in the mitochondrially encoded MTATP6 gene typically cause infantile-onset Leigh syndrome and, occasionally, have onset later in childhood. The authors report two families with onset of ataxia in adulthood (with pyramidal dysfunction and/or peripheral neuropathy variably present), who are clinically indistinguishable from other spinocerebellar ataxia patients. Methods Genetic screening study of the MTATP6 gene in 64 pedigrees with unexplained ataxia, and case series of two families who had MTATP6 mutations. Results Three pedigrees had mutations in MTATP6, two of which have not been reported previously and are detailed in this report. These families had the m.9185T>C and m.9035T>C mutations, respectively, which have not previously been associated with adult-onset cerebellar syndromes. Other investigations including muscle biopsy and respiratory chain enzyme activity were non-specific or normal. Conclusions MTATP6 sequencing should be considered in the workup of undiagnosed ataxia, even if other investigations do not suggest a mitochondrial DNA disorder.

Publication metadata

Author(s): Pfeffer G, Blakely EL, Alston CL, Hassani A, Boggild M, Horvath R, Samuels DC, Taylor RW, Chinnery PF

Publication type: Article

Publication status: Published

Journal: Journal of Neurology, Neurosurgery and Psychiatry

Year: 2012

Volume: 83

Issue: 9

Pages: 883-886

Print publication date: 10/05/2012

ISSN (print): 0022-3050

ISSN (electronic):

Publisher: BMJ Group

URL: http://dx.doi.org/10.1136/jnnp-2012-302568

DOI: 10.1136/jnnp-2012-302568

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