| NARP-MILS syndrome caused by 8993 T>G mitochondrial DNA mutation: a clinical, genetic and neuropathological study. | |
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MedLine Citation:
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PMID: 16525806 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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The 8993 T>G mutation in mitochondrial DNA has been associated with variable syndromes of differing severity ranging from maternally inherited Leigh's syndrome (MILS) to neuropathy, ataxia, retinitis pigmentosa (NARP), depending on the mutation loads in affected patients. We report a kindred with several members in the same generation suffering NARP or Leigh's syndrome due to a 8993 T>G mutation. Post-mortem studies of the brain in one affected member clinically presenting with a neurological disorder intermediate between adult Leigh's syndrome and NARP showed symmetrical lesions of the basal ganglia and brainstem closely resembling those usually described in typical Leigh's syndrome. Analysis of mtDNA in different tissues showed a high proportion of mutant genome in brainstem, cerebral cortex, putamen, cerebellum and thalamus. These observations illustrate the continuum of clinical and neuropathological manifestations associated with the 8993 T>G mutation of the mtDNA. |
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Authors:
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A Rojo; Y Campos; J M Sánchez; I Bonaventura; M Aguilar; A García; L González; M J Rey; J Arenas; M Olivé; I Ferrer |
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Publication Detail:
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Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't Date: 2006-03-09 |
Journal Detail:
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Title: Acta neuropathologica Volume: 111 ISSN: 0001-6322 ISO Abbreviation: Acta Neuropathol. Publication Date: 2006 Jun |
Date Detail:
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Created Date: 2006-05-23 Completed Date: 2007-04-16 Revised Date: 2007-11-09 |
Medline Journal Info:
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Nlm Unique ID: 0412041 Medline TA: Acta Neuropathol Country: Germany |
Other Details:
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Languages: eng Pagination: 610-6 Citation Subset: IM |
Affiliation:
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Neurology Services, Hospital Mútua de Terrassa, and University of Barcelona, Spain. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adenosine Triphosphatases
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genetics,
metabolism Ataxia / genetics*, pathology* Atrophy Brain / pathology Cerebellar Diseases / genetics, pathology DNA, Mitochondrial / genetics* Humans Leigh Disease / genetics*, pathology* Magnetic Resonance Imaging Male Middle Aged Muscle, Skeletal / pathology Mutation / genetics*, physiology* Neurons / pathology Pedigree Peripheral Nervous System Diseases / genetics*, pathology* Phenotype Retinitis Pigmentosa / genetics*, pathology* Syndrome Tomography, X-Ray Computed |
| Chemical | |
Reg. No./Substance:
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0/DNA, Mitochondrial; EC 3.6.1.-/Adenosine Triphosphatases |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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