Intra-familial phenotypic variability in a novel Autosomal dominant GCH1 variant
Objective: To report a family with a novel variant of the GCH1 gene presenting as early-onset DOPA-responsive dystonia (DRD) and late-onset Parkinson’s disease. Background: Autosomal…Childhood-onset Dystonia Linked to KIF5A:p.Arg422Cys: Case Report and Functional Characterization
Objective: To describe the clinical and functional characterization of a patient with childhood-onset dystonia carrying the KIF5A:p.Arg422Cys variant. Background: KIF5A encodes a neuronal kinesin essential…Hereditary Adult-Onset Generalized Dystonia Associated with Pathogenic IRF2BPL Mutation
Objective: To describe an atypical cluster of three siblings with autosomal dominant third-to-fifth decade-onset generalized dystonia associated with a pathological IRF2BLP gene. Background: Interferon regulatory…Familial Myoclonus-Dystonia Associated with SGCE Variant in a Chinese Family: Clinical and Genetic Characterization of Two Siblings
Objective: To report a familial case of Myoclonus-Dystonia Syndrome caused by an SGCE splice-site variant, highlighting the classic maternal imprinting mechanism and the clinical diagnostic…Expanding the phenotypic spectrum of FGF14 GAA repeat expansion to paroxysmal kinesigenic dyskinesia
Objective: To assess the frequency and pathogenic role of FGF14 GAA repeat expansion in paroxysmal kinesigenic dyskinesia (PKD). Background: FGF14 GAA repeat expansion causes spinocerebellar…Late-onset THAP-1 with SCA8 expansion mimicking functional movement disorder, case report.
Objective: - Background: Functional movement disorders (FMD) are characterized by abnormal movements without an identifiable neurological cause. Diagnosis and management of patients with FMD can…Basal Ganglia Hypointensity Associated with Glucose Transporter Type 1 Deficiency Syndrome (GLUT1-DS)
Objective: To present a new case of glucose transporter type 1 deficiency syndrome (GLUT1-DS) diagnosed in adulthood and to describe the associated radiological findings. Background:…From Cerebral Palsy to GNAO1-Related Movement Disorder: An Adult Diagnosis with Marked Response to Pallidal Deep Brain Stimulation
Objective: To report a case initially diagnosed as cerebral palsy, later identified as a GNAO1 gene–related movement disorder and to illustrate the therapeutic impact of…Investigating the Role of Biallelic EPG5 Variants in Parkinson’s Disease
Objective: Investigate EPG5 role in PD aetiology. Background: Disruption of the lysosome-autophagy pathway is a recurrent feature in Parkinson’s disease (PD). EPG5 bi-allelic loss-of-function variants have been…Audit of Diagnostic Standards in the Dystonia Clinic
Objective: To assess the utilisation of genetic testing in the dystonia clinic using the Zech score. Background: The diagnosis and categorisation of dystonia are primarily…
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