atypical CMT in Leigh disease mutation research

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Abstract from Journal of Child Neurology 2003 Jan;18(1):62-4

Leigh disease with mitochondrial DNA A8344G mutation: case report and

brief review.

Tsao CY, Herman G, Boue DR, Prior TW, Lo WD, Atkin JF, Rusin J.

Department of Pediatrics, The Ohio State University, Children's

Radiological Institute, Children's Hospital, Columbus, USA.

Leigh disease, subacute necrotizing encephalomyelopathy, is a

neurodegenerative disorder often seen in infancy or childhood but rarely

reported in adults. Genetic heterogeneity is well recognized, and the

associated etiologies include both mitochondrial and nuclear DNA

defects. We describe an infant presenting with developmental delay and

then progressive multisystem disorder and neuroradiologic features of

Leigh disease. He and his maternal relatives all have the A8344G

mitochondrial DNA mutation. However, only minor clinical features are

seen in his maternal relatives, with migraine being the most common

problem. Additionally the A8344G mitochondrial DNA mutation is

associated with spinocerebellar degeneration, other nonspecific

mitochondrial encephalomyopathies, atypical Charcot-Marie-Tooth

disease, and progressive external ophthalmoplegia. The A8344G

mitochondrial DNA mutation may present with Leigh disease or other

different atypical clinical features without myoclonic epilepsy and

ragged red fibers.