title: Peripheral neuropathy with ataxia in childhood as a result of the G8363A mutation in mitochondrial DNA.
abstract: Peripheral neuropathy has been identified in children with mitochondrial encephalomyopathies but not as a main clinical landmark. Here we report the clinical, electrophysiologic, biochemical, and genetic findings in a family who harbors the G8363A mutation in the tRNALys gene of mitochondrial DNA. Affected individuals presented with peripheral neuropathy and ataxia as the main clinical sign. Additional involvement included muscle weakness and multiple lipomatosis. Other common clinical characteristics associated with the G8363A mutation, such as cardiomyopathy and myoclonus epilepsy, were not observed. These findings suggest that a mitochondrial disease should be considered in the differential diagnosis of children with heredoataxic syndrome and peripheral neuropathy of unknown origin.
authors.affiliation: Serveis de Neuropediatria, Clinic-Hospital Sant Joan de Deu, Barcelona 08950, Spain. pineda@hsjdbcn.org
authors.forename: Mercedes
authors.initials: M
authors.lastname: Pineda
authors.forename: Abelardo
authors.initials: A
authors.lastname: Solano
authors.forename: Rafael
authors.initials: R
authors.lastname: Artuch
authors.forename: Antonio L
authors.initials: AL
authors.lastname: Andreu
authors.forename: Ana
authors.initials: A
authors.lastname: Playan
authors.forename: Maria A
authors.initials: MA
authors.lastname: Vilaseca
authors.forename: Jaime
authors.initials: J
authors.lastname: Colomer
authors.forename: Paz
authors.initials: P
authors.lastname: Briones
authors.forename: Jordi
authors.initials: J
authors.lastname: Casademont
authors.forename: Julio
authors.initials: J
authors.lastname: Montoya
mesh_terms: D000293:Adolescent; D000328:Adult; D001259:Ataxia / Q000235:genetics* / Q000473:pathology; D001706:Biopsy; D002648:Child; D004272:DNA, Mitochondrial / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D028361:Mitochondrial Diseases / Q000235:genetics* / Q000473:pathology; D018482:Muscle, Skeletal / Q000473:pathology; D010375:Pedigree; D010523:Peripheral Nervous System Diseases / Q000235:genetics* / Q000473:pathology; D017354:Point Mutation; D012150:Polymorphism, Restriction Fragment Length
chemical_list: D004272:DNA, Mitochondrial