Additive effects of POLG1 and ANT1 mutations in a complex encephalomyopathy

被引：28

作者：

Galassi, Giuliana ^{[3
]}

Lamantea, Eleonora ^{[1
,2
]}

Invernizzi, Federica ^{[1
,2
]}

Tavani, Federica ^{[4
]}

Pisano, Isabella ^{[5
]}

Ferrero, Ileana ^{[6
]}

Palmieri, Luigi ^{[7
]}

Zeviani, Massimo ^{[1
,2
]}

机构：

[1] IRCCS, C Besta Neurol Inst Fdn, Unit Mol Neurogenet Peirfranco, I-20126 Milan, Italy

[2] IRCCS, C Besta Neurol Inst Fdn, Luisa Mariani Ctr Study Childrens Mitochondrial D, I-20126 Milan, Italy

[3] Univ Modena, Dept Neurosci, I-41100 Modena, Italy

[4] Univ Modena, Serv Neuroradiol, I-41100 Modena, Italy

[5] Univ Bari, Biochem & Mol Biol Lab, Dept Pharmacobiol, Bari, Italy

[6] Univ Parma, Dept Genet Anthropol Evolut, I-43100 Parma, Italy

[7] CNR Inst Biomembranes & Bioenerget, Bari, Italy

来源：

NEUROMUSCULAR DISORDERS | 2008年 / 18卷 / 06期

关键词：

mitochondrial DNA; mtDNA multiple deletions; progressive external ophthalmoplegia; sensory-cerebellar ataxia; ANT1; POLG1;

D O I：

10.1016/j.nmd.2008.03.013

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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, ANTI and Pol gamma A, which cause additive, deleterious effects on mtDNA maintenance and integrity. (C) 2008 Elsevier B.V. All rights reserved.

引用

页码：465 / 470

页数：6

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