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Open AccessThe dopamine transporter gene SLC6A3: multidisease risks
The human dopamine transporter gene SLC6A3 has been consistently implicated in several neuropsychiatric diseases but the disease mechanism remains elusive. In this risk synthesis, we have concluded that SLC6A3 re...
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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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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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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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Correction to: Spectrum of movement disorders and neurotransmitter abnormalities in paediatric POLG disease
Due to a typesetting error the wrong Table 2 was used. The correct Table 2 is shown here:
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Open AccessSpectrum of movement disorders and neurotransmitter abnormalities in paediatric POLG disease
To describe the spectrum of movement disorders and cerebrospinal fluid (CSF) neurotransmitter profiles in paediatric patients with POLG disease.
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Open AccessPostsynaptic movement disorders: clinical phenotypes, genotypes, and disease mechanisms
Movement disorders comprise a group of heterogeneous diseases with often complex clinical phenotypes. Overlap** symptoms and a lack of diagnostic biomarkers may hamper making a definitive diagnosis. Next-gen...
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Correction: Corrigendum: Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia
Nat. Genet. 49, 223–237 (2017); published online 19 December 2016; corrected after print 20 April 2017 Following publication of this article, the authors were asked to remove a clinical image and some video fo...
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Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia
Manju Kurian and colleagues report heterozygous variants in KMT2B in 27 unrelated individuals with a complex progressive childhood-onset dystonia, often associated with a typical facial appearance. Their findings...
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Open AccessConsensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency
Aromatic L-amino acid decarboxylase deficiency (AADCD) is a rare, autosomal recessive neurometabolic disorder that leads to a severe combined deficiency of serotonin, dopamine, norepinephrine and epinephrine. ...
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Open AccessMutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism–dystonia
Although manganese is an essential trace metal, little is known about its transport and homeostatic regulation. Here we have identified a cohort of patients with a novel autosomal recessive manganese transport...
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Monoamine neurotransmitter disorders—clinical advances and future perspectives
Monoamine neurotransmitter disorders are under-recognized and often misdiagnosed, as many mimic cerebral palsy and other neurological disorders
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Open AccessMutations in SLC12A5 in epilepsy of infancy with migrating focal seizures
The potassium-chloride co-transporter KCC2, encoded by SLC12A5, plays a fundamental role in fast synaptic inhibition by maintaining a hyperpolarizing gradient for chloride ions. KCC2 dysfunction has been implicat...
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SGCE and myoclonus dystonia: motor characteristics, diagnostic criteria and clinical predictors of genotype
Myoclonus dystonia syndrome (MDS) is a young-onset movement disorder. A proportion of cases are due to mutations in the maternally imprinted SGCE gene. We assembled the largest cohort of MDS patients to date, and...
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What is new for monoamine neurotransmitter disorders?
The monoamine neurotransmitter disorders are increasingly recognized as an expanding group of inherited neurometabolic syndromes caused by disturbances in the synthesis, transport and metabolism of the biogeni...
