Results 11 to 20 of about 89 (80)
Abstract Background Childhood‐onset hyperkinetic movement disorders occur in a range of genetic conditions. Recently, there has been an increase in recognition of hyperkinetic movement disorders, mainly dystonia, chorea and dyskinesia, with monogenic conditions associated with neurodevelopmental delay (NDD) and also with developmental and epileptic ...
Hugo Morales‐Briceño +6 more
wiley +1 more source
Abstract Background Intracerebral gene therapy is effective for amino acid decarboxylase (AADC) deficiency, but relationships between anatomical putaminal coverage, metabolic dynamics, and clinical recovery remain poorly understood. Objectives Assess safety, long‐term efficacy, and clinical–radiological correlations in a genetically diverse European ...
Clément Dunoyer +27 more
wiley +1 more source
Use of antiemetics in early pregnancy 2012–2022: A cross‐sectional study
Aim Nausea and vomiting in pregnancy impact quality of life, yet many pregnant women feel dismissed by healthcare professionals, despite the safety of first‐line antiemetic treatments for both mother and fetus. Therefore, this study aims to describe the prevalence of patient‐reported antiemetic use in early pregnancy in Copenhagen, Denmark, the changes
Katrine Bak Wraae +6 more
wiley +1 more source
Vitamin‐Responsive Disorders: From Molecular Basis to Clinical Presentation and Therapy
ABSTRACT Vitamin‐dependent cofactors are essential for numerous metabolic reactions, and defects affecting their uptake, conversion, utilisation, or regeneration constitute a heterogeneous group of inherited metabolic disorders (IMDs). Although dietary vitamin intake is sufficient to sustain coenzyme synthesis in healthy individuals, it is insufficient
Cécile Acquaviva +5 more
wiley +1 more source
This decadal FAERS study (2015–2024) identifies 62,020 ocular adverse events (AEs) across 39 antidepressants, highlighting ocular neuromuscular disorders as a key risk. NDDIs show the strongest associations, while SSRIs exhibit the broadest signal spectrum.
Yiming Peng +4 more
wiley +1 more source
ABSTRACT Aromatic ʟ‐amino acid decarboxylase (AADC) deficiency is a rare pediatric neurotransmitter disorder that typically necessitates lifelong care, and that carries a risk of childhood mortality. Eladocagene exuparvovec gene therapy is designed to restore AADC production.
Daniel J. Curry +22 more
wiley +1 more source
Phenotypic Clues in Infantile‐Onset Parkinsonism‐Dystonia‐2: A Treatable Neurotransmitter Disorder
Movement Disorders Clinical Practice, EarlyView.
Sangeetha Yoganathan +10 more
wiley +1 more source
ABSTRACT Oculogyric crisis can occur even during chronic, stable aripiprazole therapy without recent dose escalation. In patients with acute upward eye deviation and an otherwise normal neurologic examination, medication review is key to recognizing drug‐induced dystonia and avoiding unnecessary neurologic workup.
Kohei Tokioka +4 more
wiley +1 more source
Acute Laryngeal Dystonia Mimicking Anaphylaxis Following Antipsychotic Initiation: A Case Report
Acute laryngeal dystonia (ALD) is an uncommon but potentially life‐threatening adverse effect of dopamine D2 receptor–blocking agents. Because airway symptoms predominate, it may be misdiagnosed as anaphylaxis. A 24‐year‐old woman developed recurrent episodes of throat tightness, dysphonia and stridor within days of antipsychotic initiation and ...
Devina Wadhwa, Nikhat Kaura
wiley +1 more source
This is the first case in Japan where a patient with treatment‐resistant schizophrenia planned marriage and pregnancy while on clozapine treatment, continued clozapine with blood level monitoring throughout the perinatal period and had a healthy baby.
Mariko Tsukiji +10 more
wiley +1 more source

