Document Detail

Infantile Parkinsonism and gabaergic hypotransmission in a patient with pyruvate carboxylase deficiency.
MedLine Citation:
PMID:  23973720     Owner:  NLM     Status:  Publisher    
Pyruvate carboxylase deficiency is a rare metabolic disorder, with three different phenotypes. We aim to report the case of a newborn presenting the severe neonatal form of this deficiency (the B or "French" phenotype, hypokinesia and rigidity being the main features) and the results of the study of classic neurotransmitters involved in movement control. Hyperdopaminergic transmission (both in the cerebrospinal fluid and in the substantia nigra) and hypogabaergic transmission (in the substantia nigra) was found. Both gamma-aminobutyric acid and dopamine markers were found coexisting in individual neurons of the substantia nigra. This is the first time this phenomenon has been reported in the literature. We discuss the possible role of gabaergic deficiency, its interaction with other neurotransmitters and its implication in neurotransmitter homeostasis. A better comprehension of that field would increase understanding of the pathophysiology of neurological symptoms and neurotransmitter plasticity.
C Ortez; C Jou; E Cortès-Saladelafont; J Moreno; A Pérez; A Ormazábal; C Pérez-Cerdá; B Pérez; R Artuch; V Cusi; A García-Cazorla
Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2013-8-22
Journal Detail:
Title:  Gene     Volume:  -     ISSN:  1879-0038     ISO Abbreviation:  Gene     Publication Date:  2013 Aug 
Date Detail:
Created Date:  2013-8-26     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  7706761     Medline TA:  Gene     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Copyright Information:
© 2013 Elsevier B.V. All rights reserved.
Department of Neurology, Hospital Sant Joan de Déu, Barcelona; CIBER-ER (Biomedical Network Research Centre on Rare Diseases), Instituto de Salud Carlos III, Madrid, Spain.
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