Expanded motor and psychiatric phenotype in autosomal dominant Segawa syndrome due to GTP cyclohydrolase deficiency

BACKGROUND: Segawa syndrome due to GTP cyclohydrolase deficiency is an autosomal dominant disorder with variable expression, that is clinically characterised by l‐dopa responsive, diurnally fluctuating dystonia and parkinsonian symptoms. OBJECTIVE: To delineate the neurological and psychiatric pheno...

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Main Authors: Van Hove, J L K, Steyaert, J, Matthijs, G, Legius, E, Theys, P, Wevers, R, Romstad, A, Møller, L B, Hedrich, K, Goriounov, D, Blau, N, Klein, C, Casaer, P
Formato: Artigo
Idioma:Inglês
Publicado: BMJ Group 2006
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Paper
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC2117403/
https://ncbi.nlm.nih.gov/pubmed/16361586
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jnnp.2004.051664
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