Document Detail

Additive effects of POLG1 and ANT1 mutations in a complex encephalomyopathy.
MedLine Citation:
PMID:  18504126     Owner:  NLM     Status:  MEDLINE    
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.
Giuliana Galassi; Eleonora Lamantea; Federica Invernizzi; Federica Tavani; Isabella Pisano; Ileana Ferrero; Luigi Palmieri; Massimo Zeviani
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't     Date:  2008-05-27
Journal Detail:
Title:  Neuromuscular disorders : NMD     Volume:  18     ISSN:  0960-8966     ISO Abbreviation:  Neuromuscul. Disord.     Publication Date:  2008 Jun 
Date Detail:
Created Date:  2008-06-24     Completed Date:  2008-09-24     Revised Date:  2011-11-24    
Medline Journal Info:
Nlm Unique ID:  9111470     Medline TA:  Neuromuscul Disord     Country:  England    
Other Details:
Languages:  eng     Pagination:  465-70     Citation Subset:  IM    
Department of Neuroscience, University of Modena, Modena, Italy.
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MeSH Terms
Adenine Nucleotide Translocator 1 / genetics*
Adenosine Triphosphate / metabolism
DNA Mutational Analysis
DNA-Directed DNA Polymerase / classification,  genetics*
Magnetic Resonance Imaging
Methionine / genetics
Mitochondrial Encephalomyopathies / etiology,  genetics*,  pathology
Molecular Sequence Data
Mutation / genetics*
Time Factors
Valine / genetics
Grant Support
Reg. No./Substance:
0/Adenine Nucleotide Translocator 1; 56-65-5/Adenosine Triphosphate; 63-68-3/Methionine; 7004-03-7/Valine; EC 2.7.7.-/POLG protein, human; EC DNA Polymerase

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