Neuropediatrics 2007; 38(6): 313-316
DOI: 10.1055/s-2008-1065355
Short Communication

© Georg Thieme Verlag KG Stuttgart · New York

Variable Phenotype Including Leigh Syndrome with a 9185T>C Mutation in the MTATP6 Gene

A.-M. Childs 1 , T. Hutchin 2 , K. Pysden 1 , L. Highet 1 , J. Bamford 3 , J. Livingston 1 , Y. J. Crow 2
  • 1Department of Paediatric Neurology, Leeds Teaching Hospitals Trust, Leeds General Infirmary, Leeds, West Yorkshire, U.K.
  • 2Leeds Institute of Molecular Medicine, University of Leeds, Leeds, West Yorkshire, U.K.
  • 3Department of Neurology, Leeds Teaching Hospitals Trust, Leeds General Infirmary, Leeds, West Yorkshire, U.K.
Further Information

Publication History

received 16.07.2007

accepted 05.03.2008

Publication Date:
06 May 2008 (online)

Abstract

We describe 15 members of a Caucasian family with an apparently homoplasmic T→C mutation at nucleotide position 9185 (9185T>C) in the mtDNA encoded MTATP6 (ATPase 6) gene. The clinical phenotype is extremely variable and includes late-onset Leigh syndrome (LS), isolated demyelinating peripheral neuropathy and neurogenic muscle weakness, ataxia and retinitis pigmentosa (NARP). Following recent reports of this same mutation in a single case and in a family with late-onset LS and NARP-like features, our paper emphasises the role of MTATP6 in LS and expands the associated clinical phenotype further.

References

Correspondence

A.-M. Childs

Department of Paediatric Neurology

Leeds Teaching Hospitals Trust

B Floor

Clarendon Wing

The General Infirmary at Leeds

Belmont Grove

Leeds

West Yorkshire LS2 9NS

United Kingdom

Phone: +44/113/392 31 13

Fax: +44/113/302 57 31

Email: [email protected]