Atypical Phenotype of SORL1-Associated Early-Onset Alzheimer’s Disease With Oromandibular and Cervical Dystonia
Objective: We present a case of early-onset Alzheimer’s disease associated with a mutation in the SORL1 gene accompanied by extrapyramidal symptoms, including oromandibular and cervical…SGCE Mutations in Chinese Dystonia Patients: A Dual-Center Sequencing Study and Literature Review
Objective: To delineate the clinical and genetic profiles of dystonia patients with SGCE mutations in the Chinese population. Background: SGCE mutations are the primary cause of…Levodopa-Responsive Dystonia in Adenylosuccinate Lyase (ADSL) Deficiency Treated With Bilateral GPi Deep Brain Stimulation
Objective: To describe levodopa-responsive dystonia in ADSL deficiency and the use of bilateral globus pallidus internus (GPi) deep brain stimulation (DBS) for refractory symptoms. Background:…Trancranial Sonography Reveals Striatal Neurodegeneration in the Prodromal Phase of X-linked Dystonia-Parkinsonism
Objective: To use transcranial sonography (TCS) to detect striatal and substantia nigra abnormalities in patients with X-linked dystonia-parkinsonism syndrome (XDP), non-manifesting carriers (NMC) of the…THD (Tyrosine Hydroxylase Deficiency) in a 39-Year-Old Woman with Early-Onset Dystonia
Objective: To report a case of tyrosine hydroxylase deficiency (THD), a rare neurometabolic disorder that disrupts catecholamine biosynthesis. This case report highlights common neurologic abnormalities,…Automated dystonic posture detection of the hand in children with GNAO1-related movement disorders from home-based videos using computer vision
Objective: To train a deep learning model to automatically detect dystonic hand posture from images extracted from home-video recordings in GNAO1-related dystonia. Background: Movement disorders…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…
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