Late‐onset Levodopa Responsive Parkinsonism Due to Polymerase γ 1 Mutations

Calejo, Margarida; Vilarinho, Laura; Neiva, Raquel; Botelho, Luís; Ramalheira, João; Taipa, Ricardo; Melo‐Pires, Manuel; Lima, António Bastos; Damásio, Joana

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Resumo(s)

Introduction: Polymerase γI (POLG) gene mutations may induce mitochondrial DNA (mtDNA) instability leading to its depletion or multiple deletions1 and causing a wide spectrum of multisystemic disorders. Commonly described phenotypes include AlpersHuttenlocher syndrome, childhood myocerebrohepatopathy, myoclonic epilepsy myopathy and sensory ataxia, mitochondrial recessive ataxia syndrome, sensory ataxia neuropathy with dysarthria, and ophthalmoplegia and progressive external ophthalmoplegia (PEO).1 Levodopa-responsive parkinsonism has been described as a late feature in patients with PEO.

Palavras-chave

Levodopa‐responsive Parkinsonism Polymerase gamma 1 Mutations Doenças Genéticas

URI

http://hdl.handle.net/10400.18/6273

Citação

Mov Disord Clin Pract. 2018 Oct 17;5(6):645-648. doi: 10.1002/mdc3.12668. eCollection 2018 Nov-Dec

Editora

Wiley

DOI

10.1002/mdc3.12668

Coleções

DGH - Artigos em revistas internacionais

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