Peripheral Neuropathy with Ataxia in Childhood as a Result of the G8363A Mutation in Mitochondrial DNA

Peripheral neuropathy has been identified in children with mitochondrial encephalomyopathies but not as a main clinical landmark. Here we report the clinical, electrophysiologic, biochemical, and genetic findings in a family who harbors the G8363A mutation in the tRNALys gene of mitochondrial DNA. Affected individuals presented with peripheral neuropathy and ataxia as the main clinical sign. Additional involvement included muscle weakness and multiple lipomatosis. Other common clinical characteristics associated with the G8363A mutation, such as cardiomyopathy and myoclonus epilepsy, were not observed. These findings suggest that a mitochondrial disease should be considered in the differential diagnosis of children with here-doataxic syndrome and peripheral neuropathy of unknown origin.

[1]  M. Taniyama,et al.  Lipoma and sensory neuropathy in mitochondrial diabetes associated with tRNA mutation at position 3271. , 2002, Diabetes care.

[2]  S. Dimauro,et al.  G8363A Mutation in the Mitochondrial DNA Transfer Ribonucleic Acid Lys Gene: Another Cause of Leigh Syndrome , 2000, Journal of child neurology.

[3]  R. Artuch,et al.  Oxygen consumption measurement in lymphocytes for the diagnosis of pediatric patients with oxidative phosphorylation diseases. , 2000, Clinical biochemistry.

[4]  A. Verbeek,et al.  A Prognostic Index as Diagnostic Strategy in Children Suspected of Mitochondriocytopathy , 2000, Neuropediatrics.

[5]  E Courchesne,et al.  Autism Associated With the Mitochondrial DNA G8363A Transfer RNALys Mutation , 2000, Journal of child neurology.

[6]  A. Federico,et al.  Mitochondrial G8363A mutation presenting as cerebellar ataxia and lipomas in an Italian family , 1999, Neurology.

[7]  J. Pollard,et al.  Peripheral Neuropathy in Childhood , 1999 .

[8]  S. Dimauro,et al.  A double mutation (A8296G and G8363A) in the mitochondrial DNA tRNALys gene associated with myoclonus epilepsy with ragged-red fibers , 1999, Neurology.

[9]  C. Bruno,et al.  Familial multiple symmetric lipomatosis associated with the A8344G mutation of mitochondrial DNA , 1998, Neurology.

[10]  Yau-Huei Wei,et al.  Peripheral neuropathy associated with mitochondrial myopathy , 1997, Neuromuscular Disorders.

[11]  I. Nonaka,et al.  Myoclonus epilepsy associated with ragged‐red fibers: A G‐to‐A mutation at nucleotide pair 8363 in mitochondrial tRNALys in two families , 1997, Muscle & nerve.

[12]  F. Gabreëls,et al.  Mitochondrial cytopathy presenting as hereditary sensory neuropathy with progressive external ophthalmoplegia, ataxia and fatal myoclonic epileptic status. , 1996, Brain : a journal of neurology.

[13]  S. Dimauro,et al.  Maternally inherited cardiomyopathy and hearing loss associated with a novel mutation in the mitochondrial tRNA(Lys) gene (G8363A). , 1996, American journal of human genetics.

[14]  S. Subramony.  Topical Review: Clinical Aspects of Hereditary Ataxias , 1995 .

[15]  R. Artuch,et al.  Determination of lactate, pyruvate, beta-hydroxybutyrate and acetoacetate with a centrifugal analyser. , 1995, European journal of clinical chemistry and clinical biochemistry : journal of the Forum of European Clinical Chemistry Societies.

[16]  T. Bourgeron,et al.  Biochemical and molecular investigations in respiratory chain deficiencies. , 1994, Clinica chimica acta; international journal of clinical chemistry.

[17]  D. Turnbull,et al.  An evaluation of the measurement of the activities of complexes I-IV in the respiratory chain of human skeletal muscle mitochondria. , 1994, Biochemical medicine and metabolic biology.

[18]  A. Harding,et al.  A new mitochondrial disease associated with mitochondrial DNA heteroplasmy. , 1990, American journal of human genetics.

[19]  J. Berden,et al.  Differential investigation of the capacity of succinate oxidation in human skeletal muscle. , 1985, Clinica chimica acta; international journal of clinical chemistry.

[20]  S. Subramony.  Clinical aspects of hereditary ataxias. , 1995, Journal of child neurology.

[21]  R. Artuch,et al.  遠心分離分析による乳酸,ピルビン酸,β‐ヒドロキシ酪酸,アセト酢酸の定量 , 1995 .

[22]  Harding Ae.  Clinical features and classification of inherited ataxias. , 1993, Advances in neurology.

[23]  I. Kanazawa,et al.  Peripheral neuropathy of mitochondrial myopathies. , 1991, Revue neurologique.