Peripheral neuropathy with ataxia in childhood as a result of the G8363A mutation in mitochondrial DNA.
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.
Pineda
Mercedes
M
Serveis de Neuropediatria, Clinic-Hospital Sant Joan de Deu, Barcelona 08950, Spain. pineda@hsjdbcn.org
Solano
Abelardo
A
Artuch
Rafael
R
Andreu
Antonio L
AL
Playan
Ana
A
Vilaseca
Maria A
MA
Colomer
Jaime
J
Briones
Paz
P
Casademont
Jordi
J
Montoya
Julio
J
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
D004272:DNA, Mitochondrial