This Article Full Text (PDF) References Alert me when this article is cited Alert me if a correction is posted Citation Map Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Add to Saved Citations Download to citation manager Request Permissions Request Reprints Add to My Marked Citations Citing Articles Citing Articles via Google Scholar Citing Articles via Scopus Google Scholar Articles by Saitoh, S. Articles by Arima, K. Search for Related Content PubMed PubMed Citation Articles by Saitoh, S. Articles by Arima, K. Social Bookmarking                         What's this?

A Large-Scale Mitochondrial DNA Deletion Causing Progressive Ataxia

Department of Pediatrics Jichi Medical School Tochigi, Japan

Mariko Y. Momoi, MD

Department of Pediatrics Jichi Medical School Tochigi, Japan

Takehiro Ohki, MD

Department of Pediatrics Jichi Medical School Tochigi, Japan

Takanori Yamagata, MD

Department of Pediatrics Jichi Medical School Tochigi, Japan

Tomohiko Tsuru, MD

Department of Pediatrics Jichi Medical School Tochigi, Japan

Masashi Mizuguchi, MD

Department of Pediatrics Jichi Medical School Tochigi, Japan

Kunimasa Arima, MD

Department of Ultrastructure and Histochemistry Tokyo Institute of Psychiatry Tokyo, Japan

Mitochondrial diseases are characterized by heteroplasmic mitochondrial DNA mutations and multisystemic dysfunction. Base substitutions of mitochondrial DNA have been reported in mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS), ^1,2 myoclonus epilepsy with ragged red fibers (MERRF), ³ and other neuromuscular disorders.⁴ Heteroplasmic mitochondrial DNA deletions are usually detected in chronic external ophthalmoplegia, including Kearns-Sayre syndrome, ⁵ and on rare occasions in Pearson marrow-pancreas syndrome.⁶ A few unusual clinical complexes associated with single mitochondrial DNA deletions have been reported, such as maternally transmitted diabetes and deafness,⁷ diffuse leukodystrophy,⁸ MELAS, Fanconi's syndrome,9 pure myopathy and neuropathy,¹⁰ myopathy with lipomatosis, ¹¹ and Leigh-type neuropathology.¹²

We report here a patient with a large-scale mitochondrial DNA deletion, which was located at a novel site and produced an atypical Kearns-Sayre syndrome phenotype. The major clinical sign at the early stage was not ophthalmoplegia, but cerebellar ataxia.

Journal of Child Neurology, Vol. 13, No. 11, 573-575 (1998)
DOI: 10.1177/088307389801301109


CiteULike    Complore    Connotea    Del.icio.us    Digg    Reddit    Technorati    Twitter    What's this?