Document Detail

Alpers syndrome with prominent white matter changes.
MedLine Citation:
PMID:  17923349     Owner:  NLM     Status:  MEDLINE    
Alpers syndrome is a fatal neurogenetic disorder caused by the mutations in POLG1 gene encoding the mitochondrial DNA polymerase gamma (polgamma). Two missense variants, c.248T > C (p.L83P), c.2662G > A (p.G888S) in POLG1 were detected in a 10-year-old Chinese girl with refractory seizures, acute liver failure after exposure to valproic acid, cortical blindness, and psychomotor regression. The pathology of left occipital lobe showed neuronal loss, spongiform degeneration, astrocytosis, and demyelination. In addition, there were prominent white matter changes in a series of brain magnetic resonance imaging (MRI) and increased immunological factors in CSF.
Xinhua Bao; Ye Wu; Lee-Jun C Wong; Yuehua Zhang; Hui Xiong; Ping-Chieh Chou; Cavatina K Truong; Yuwu Jiang; Jiong Qin; Yun Yuan; Qing Lin; Xiru Wu
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Publication Detail:
Type:  Case Reports; Journal Article     Date:  2007-10-17
Journal Detail:
Title:  Brain & development     Volume:  30     ISSN:  0387-7604     ISO Abbreviation:  Brain Dev.     Publication Date:  2008 Apr 
Date Detail:
Created Date:  2008-03-12     Completed Date:  2008-06-09     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  7909235     Medline TA:  Brain Dev     Country:  Netherlands    
Other Details:
Languages:  eng     Pagination:  295-300     Citation Subset:  IM    
Department of Pediatrics, Peking University First Hospital, Beijing, China.
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MeSH Terms
Amino Acid Sequence
DNA-Directed DNA Polymerase / genetics*
Diffuse Cerebral Sclerosis of Schilder / genetics*,  immunology,  pathology*
Evoked Potentials, Auditory, Brain Stem
Magnetic Resonance Imaging
Molecular Sequence Data
Mutation, Missense
Nerve Fibers, Myelinated / pathology*
Reg. No./Substance:
EC 2.7.7.-/POLG protein, human; EC DNA Polymerase

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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