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Editor,—Mitochondrial diseases manifest a variety of syndromic signs. Skeletal muscle, central nervous system, heart, eye, ear, liver, kidney, pancreas, bone marrow, and colon are the common target organs in mitochondrial diseases. The mitochondrial DNA (mtDNA) is responsible for the mitochondrial diseases through molecular defect of oxidative phosphorylation enzymes in conjunction with the nuclear genome.1 Optic neuropathy and cerebellar ataxia are a frequent association in mitochondrial diseases. We report a sporadic case of bilateral optic neuropathy, cerebellar ataxia, and peripheral neuropathy associated with a rare missense variation at np 14510 which replaced Val by Ala in the ND 6 coding sequence of mtDNA.
CASE REPORT
A 52 year old Japanese man first noted writing disturbance, tremor of hands, and mild gait disturbance at the age of 49 years. The patient had a 30 year history of drinking (daily alcohol consumption 125 g) and smoking (daily 20 cigarettes). Physical examination revealed a complex of neurological signs including cerebellar ataxia and peripheral neuropathy. The gait was broad based and ataxic. There was mild ataxia of the lower extremities on heel to knee test. Deep tendon reflexes were hyperactive with normal plantar responses. Peripheral nerve conduction velocity studies revealed sensory polyneuropathy in the upper and lower limbs. Muscular strength and volume of the limbs were normal. Magnetic resonance imaging showed cerebellar atrophy with dilatation of the fourth ventricle (Fig 1). The cerebrospinal fluid was normal without any inflammatory signs. Peripheral blood examination showed mild macrocytic anaemia. The serum levels of vitamin B-1, vitamin B-12, and folic acid were within the normal range. Red blood cell folate level was also normal. The patient also had suffered from insidious, progressive loss of central vision in both eyes since 51 years of age. At presentation, best corrected visual acuity was 0.1 …