No abstract

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.

No abstract

Brain MRI, T 1 weighted image (T 1 WI) (Sagittal, 3T; TR 2475ms, TE 7.2ms) and T 2 weighted image (T 2 WI) (Axial, 3T; TR 3500ms, TE 120ms), revealed diffuse brain atrophy in the frontal lobe, temporal lobe, pons, and cerebellum. There were no abnormal findings of the basal ganglia in susceptibility weighted image (SWI) (Axial, 3T; TR 22.4ms, TE 33.9ms). 巻 4 号（2013：4） 53：280Gene analysis of ATXN8OS.(a) PCR analysis of ATXN8OS showed the expansion of CTA/CTG repeats in our patient as 28/141 repeats. P, SCA8 patient; 1, another disease control; 2, this case; N, normal control; and W, negative control.

No abstract