Leigh-like syndrome with the T8993G mutation in the mitochondrial ATPase 6 gene: long-term follow-up discloses a slowly progressive course

Autor(es)

Sobreira, Claudia ^[1] ; Marques, Jr., Wilson ^[1] ; Neto, Octavio M. Pontes ^[1] ; Santos, Antonio Carlos ^[2] ; Neto, Joao M. Pina ^[3] ; Barreira, Amilton A. ^[1]

Afiliação do(s) autor(es)

^[1] Univ Sao Paulo, Fac Med Ribeirao Preto, Dept Neurociencias, Div Neurol, BR-14048900 Ribeirao Preto - Brazil

^[2] Univ Sao Paulo, Fac Med Ribeirao Preto, Dept Med, Div Radiol, BR-14048900 Ribeirao Preto - Brazil

^[3] Univ Sao Paulo, Fac Med Ribeirao Preto, Dept Genet, BR-14048900 Ribeirao Preto - Brazil

• Tipo de documento: Artigo Científico
• Fonte: JOURNAL OF THE NEUROLOGICAL SCIENCES; v. 278, n. 1-2, p. 132-134, MAR 15 2009.
• Citações Web of Science: 5

Resumo

We describe the long-term clinical outcome of a patient with Leigh-like syndrome presenting as an early onset encephalopathy and peripheral neuropathy caused by the T8993G mutation in the mitochondrial DNA (mtDNA). Clinical follow-up for 20 years revealed a peculiar pattern of slow disease progression, characterized by the addition of new minor deficits, while worsening of previous symptoms was mild. Brain MRI revealed cerebellar atrophy, diffuse demyelination of corona radiata and parietal white matter, and bilateral and symmetrical putaminal lesions. The proportion of mutant mtDNAs in blood was 72% (+/- 0.02%) and in skeletal muscle was 81% (+/- 0.4%). Leigh-like syndrome caused by the T8993G mtDNA mutation is a progressive disease, although not necessarily associated with an aggressive clinical course. (C) 2009 Elsevier B.V. All rights reserved. (AU)

• Processo FAPESP: 98/14928-3 - Estudo das mitocôndrias morfologicamente anormais em biopsias musculares de pacientes com doença mitocondrial e em culturas de mioblastos com população homoplásmica de mtDNAs mutantes
• Beneficiário: Cláudia Ferreira da Rosa Sobreira
• Modalidade de apoio: Auxílio à Pesquisa - Jovens Pesquisadores