[A case of neurologic muscle weakness, ataxia, and retinitis pigmentosa (NARP) syndrome with a novel mitochondrial mutation m.8729 G>A].
We report a patient having classical clinical feature of neurologic muscle weakness, ataxia, and retinitis pigmentosa (NARP) and a novel mutation, m.8729 G>A in mitochondria DNA. The patient was referred to our hospital because of progressive ataxia in her limbs and trunk. She had a history of incapability of running long distances from childhood. Neurological examination revealed cerebellar ataxia, distal dominant muscle weakness in the limbs, hyporeflexia, hypoesthesia, myoclonus, sensorineural deafness, and retinitis pigmentosa. Magnetic resonance imaging (MRI) showed atrophy of brain stem and cerebellum as well as calcification of basal ganglia. In both serum and cerebrospinal fluid, lactate and pyruvate levels were elevated. Histological examination of biopsied muscle revealed chronic neurogenic changes without ragged red fibers. Genetic analysis of mitochondrial DNA (mtDNA) of the muscle revealed a heteroplasmic mutation, m.8729 G>A. Chemical analysis of the respiratory chain complexes in her muscle specimen demonstrated lower activities of complexes I and V. In our case, novel mutation of m.8729 G>A in mtDNA was indicated as the cause of NARP syndrome.
Department of Neurology, Kasai Hospital.
Toko
T
Miyawaki
Shusuke
S
Koto
Hiroyuki
H
Ishihara
Yuichi
Y
Goto
Ichizo
I
Nishino
Fumio
F
Kanda
Tatsushi
T
Toda
D000251:Adenosine Triphosphatases / Q000172:deficiency; D000328:Adult; D002352:Carrier Proteins; D002531:Cerebellum / Q000473:pathology; D004272:DNA, Mitochondrial / Q000235:genetics*; D005260:Female; D005820:Genetic Testing; D006801:Humans; D008279:Magnetic Resonance Imaging; D008565:Membrane Proteins / Q000172:deficiency; D017240:Mitochondrial Myopathies / Q000175:diagnosis* / Q000235:genetics* / Q000473:pathology; D025261:Mitochondrial Proton-Translocating ATPases; D009132:Muscles / Q000201:enzymology; D009154:Mutation; D012174:Retinitis Pigmentosa / Q000175:diagnosis* / Q000235:genetics* / Q000473:pathology
D002352:Carrier Proteins; D004272:DNA, Mitochondrial; D008565:Membrane Proteins; D000251:Adenosine Triphosphatases; D025261:Mitochondrial Proton-Translocating ATPases; C020439:oligomycin sensitivity-conferring protein