A case of sensory ataxic neuropathy, dysarthria, and ophthalmoparesis with multiple mitochondrial DNA deletions

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  • Tanaka Koji
    Department of Neurology, Neurological Institute, Graduate School of Medical Sciences, Kyushu University
  • Tateishi Takahisa
    Department of Neurology, Neurological Institute, Graduate School of Medical Sciences, Kyushu University
  • Kawamura Nobutoshi
    Department of Neurology, Neurological Institute, Graduate School of Medical Sciences, Kyushu University
  • Ohyagi Yasumasa
    Department of Neurology, Neurological Institute, Graduate School of Medical Sciences, Kyushu University
  • Urata Michiyo
    Department of Clinical Chemistry and Laboratory Medicine, Graduate School of Medical Sciences, Kyushu University
  • Kira Jun-ichi
    Department of Neurology, Neurological Institute, Graduate School of Medical Sciences, Kyushu University

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  • ミトコンドリアDNAに多重欠失をみとめたsensory ataxic neuropathy, dysarthria, and ophthalmoparesisの1例
  • ショウレイ ホウコク ミトコンドリア DNA ニ タジュウ ケツシツ オ ミトメタ sensory ataxic neuropathy, dysarthria, and ophthalmoparesis ノ 1レイ

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Abstract

We report the case of a 62-year-old man with sensory ataxic neuropathy, dysarthria, and ophthalmoparesis (SANDO). He developed gait disturbance at 54 years of age, muscle weakness at 56 years, and difficulty hearing at 58 years. His brother had muscle weakness in both legs from age 20 years, and was diagnosed with Charcot-Marie-Tooth disease because he had muscle weakness of the four extremities, decreased CMAP and SNAP amplitudes on peripheral nerve conduction tests, and loss of large myelinated fibers and onion-bulb formations on sural nerve biopsy. His brother died aged 46 years, but no accurate cause of death was identified. Neurological examination of the present patient revealed bilateral ptosis, external ophthalmoparesis, dysarthria, dysphagia, sensorineural hearing loss, mild weakness and atrophy of proximal muscles in all four limbs, severe sensory ataxia, and disturbance of deep sensation in his legs. He showed elevation of lactate and pyruvate levels in cerebrospinal fluid and serum. An aerobic exercise test disclosed a marked increase in lactate and pyruvate levels in serum. On nerve conduction study, amplitudes of CMAP and SNAP, and F wave-evoked frequency were decreased. Needle electromyography showed chronic neurogenic patterns with fibrillation potentials in the extremity muscles. Head MRI demonstrated T2 prolonged lesions in the bilateral basal ganglia, while brain MRS revealed a small lactate peak. Biopsy of his left lateral vastus muscle showed ragged-red fibers and group atrophy, and some muscle fibers had decreased cytochrome c activity. Left sural nerve biopsy revealed a marked loss of large myelinated fibers, and some onion-bulb formations. Genetic testing disclosed a large mtDNA deletion in the biopsied muscle. Among nuclear genes, we found point mutations in ANT-1 (exon 1 c.105G>A, 5' untranslated region) and POLG-1 (exon 4, c.1218G>A, p. and exon 23 c.3920C>T, p.A1217V). We diagnosed SANDO. This is the first case of SANDO with large mitochondrial DNA deletions in Japanese.

Journal

  • Rinsho Shinkeigaku

    Rinsho Shinkeigaku 53 (3), 205-211, 2013

    Societas Neurologica Japonica

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