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  1. No Access

    Article

    Volumetric study of brain MRI in a cohort of patients with neurotransmitter disorders

    Inborn errors of neurotransmitters are rare monogenic diseases. In general, conventional neuroimaging is not useful for diagnosis. Nevertheless, advanced neuroimaging techniques could provide novel diagnosis a...

    Chiara Alfonsi, Christian Stephan-Otto, Elisenda Cortès-Saladelafont… in Neuroradiology (2022)

  2. No Access

    Article

    Neuropsychiatric symptoms and intelligence quotient in autosomal dominant Segawa disease

    Segawa disease is a rare dystonia due to autosomal dominant guanosine triphosphate cyclohydrolase I (adGTPCH) deficiency, affecting dopamine and serotonin biosynthesis. Recently, the clinical phenotype was exp...

    Eduardo López-Laso, Araceli Sánchez-Raya, Juan Antonio Moriana… in Journal of Neurology (2011)

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    Article

    Reduced penetrance in hereditary motor neuropathy caused by TRPV4 Arg269Cys mutation

    Incomplete penetrance has rarely been reported in Charcot–Marie–Tooth disease. Our aim is to describe reduced penetrance in a hereditary motor neuropathy pedigree due to mutation in the transient receptor potenti...

    José Berciano, Jonathan Baets, Elena Gallardo, Magdalena Zimoń… in Journal of Neurology (2011)

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    Article

    Segawa syndrome due to mutation Q89X in the GCH1 gene: a possible founder effect in Córdoba (southern Spain)

    Autosomal dominant guanosine triphosphate cyclohydrolase I deficiency is an inborn error of neurotransmitter metabolism, with a prevalence of 0.5 per million, caused by mutations/deletions in the GCH1 gene. The f...

    Eduardo López-Laso, Juan José Ochoa-Sepúlveda, Juan José Ochoa-Amor… in Journal of Neurology (2009)