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Article
Open AccessClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization
Whole-exome sequencing (WES) and whole-genome sequencing (WGS) have become indispensable tools to solve rare Mendelian genetic conditions. Nevertheless, there is still an urgent need for sensitive, fast algori...
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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...
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Article
Open AccessClinical improvements after treatment with a low-valine and low-fat diet in a pediatric patient with enoyl-CoA hydratase, short chain 1 (ECHS1) deficiency
Enoyl-CoA hydratase short-chain 1 (ECHS1) is a key mitochondrial enzyme that is involved in valine catabolism and fatty acid beta-oxidation. Mutations in the ECHS1 gene lead to enzymatic deficiency, resulting in ...
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Article
Open AccessInsights into the expanding phenotypic spectrum of inherited disorders of biogenic amines
Inherited disorders of neurotransmitter metabolism are rare neurodevelopmental diseases presenting with movement disorders and global developmental delay. This study presents the results of the first standardi...
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Article
Open AccessCorrection to: Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies
An amendment to this paper has been published and can be accessed via the original article.
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Article
Open AccessConsensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies
Tetrahydrobiopterin (BH4) deficiencies comprise a group of six rare neurometabolic disorders characterized by insufficient synthesis of the monoamine neurotransmitters dopamine and serotonin due to a disturbance ...
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Article
Recommendations for the radiological diagnosis and follow-up of neuropathological abnormalities associated with tuberous sclerosis complex
Tuberous sclerosis complex (TSC) is a genetic condition with multisystem involvement, characterized by the development of tumors and other abnormalities in organs such as the brain, retina, skin, heart, kidne...
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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...
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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...
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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...
