Rinsho Shinkeigaku (Clinical Neurology)

Case Report

A case of neurologic muscle weakness, ataxia, and retinitis pigmentosa (NARP) syndrome with a novel mitochondrial mutation m.8729 G>A

Toko Miyawaki, M.D.1)2), Shusuke Koto, M.D.1), Hiroyuki Ishihara, M.D.1), Yuichi Goto, M.D. 3), Ichizo Nishino, M.D.4), Fumio Kanda, M.D.5) and Tatsushi Toda, M.D.6)

1)Department of Neurology, Kasai Hospital
2)Present Address: Department of Neurology, Higashi-Saitama National Hospital
3)Department of Ultrastructural Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP)
4)Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP)
5)Integrated Clinical Education Center, Kobe University Hospital
6)Dividion of Neurology/Molecular Brain Science, Kobe University Graduate School of Medicine

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.
Full Text of this Article in Japanese PDF (660K)

(CLINICA NEUROL, 55: 91|95, 2015)
key words: mitochondrial diseases, ATP synthase, neurologic muscle weakness, ataxia, and retinitis pigmentosa (NARP), cerebellar ataxia, genetic testing

(Received: 20-Mar-14)