Additive effects of POLG1 and ANT1 mutations in a complex encephalomyopathy.

TitleAdditive effects of POLG1 and ANT1 mutations in a complex encephalomyopathy.
Publication TypeJournal Article
Year of Publication2008
AuthorsGalassi, G, Lamantea, E, Invernizzi, F, Tavani, F, Pisano, I, Ferrero, I, Palmieri, L, Zeviani, M
JournalNeuromuscul Disord
Date Published2008 Jun
KeywordsAdenine Nucleotide Translocator 1, Adenosine Triphosphate, Adult, DNA Mutational Analysis, DNA Polymerase gamma, DNA-Directed DNA Polymerase, Female, Humans, Magnetic Resonance Imaging, Methionine, Mitochondrial Encephalomyopathies, Molecular Sequence Data, Mutation, Time Factors, Valine

MtDNA instability is associated with a wide spectrum of clinical presentations, from dominant or recessive progressive external ophthalmoplegia (PEO) to juvenile-onset spino-cerebellar ataxia and epilepsy (SCAE) or infantile Alpers-Huttenlocher syndrome. We present here the clinical and molecular features of a patient with a clinical presentation characterized initially by PEO with mtDNA multiple deletions lately evolving into a severe neurological syndrome, which included sensory and cerebellar ataxia, peripheral neuropathy, parkinsonism, and depression. This complex phenotype is the result of mutations in two distinct proteins, ANT1 and PolgammaA, which cause additive, deleterious effects on mtDNA maintenance and integrity.

Alternate JournalNeuromuscul. Disord.
Citation Key10.1016/j.nmd.2008.03.013
PubMed ID18504126
Grant ListGGP07019 / / Telethon / Italy