Dystonias in a Nigerian Tertiary Hospital: A Case Series Highlighting Diagnostic and Therapeutic Challenges and a Five-Year Retrospective Review
Objective: To describe three clinically diverse cases of dystonia managed at a Nigerian tertiary hospital and present findings from a five-year retrospective review of dystonia…Validation of Augmented Reality–Based Speech Biomarkers for Objective Detection and Monitoring of Parkinson’s Disease and Atypical Parkinsonian Syndromes
Objective: To validate the feasibility and diagnostic potential of an offline, head-mounted augmented reality (AR) system for automated extraction of acoustic and temporal speech biomarkers in…SLC20A2 Splice-Site Mutation (c.935-1G>A) Presenting as levodopa-responsive parkinsonism: Expanding the Phenotypic Spectrum of Primary Familial Brain Calcification
Objective: To report a case carrying a rare splice-site mutation in the SLC20A2 gene presenting as early-onset, levodopa-responsive parkinsonism. Background: Primary Familial Brain Calcification (PFBC)…Severe Dopaminergic Deficits in Early Stage Genetically-Confirmed Perry Syndrome
Objective: To describe the evidence for severe dopaminergic deficit in early stages of genetically confirmed Perry syndrome Background: PS is a neurodegenerative disease comprised of…Genotype-Phenotype Relations in Neurodegeneration with Brain Iron Accumulation (NBIA) Genes: MDSGene Systematic Review
Objective: To provide a comprehensive review of individual-level data and genotype-phenotype relationships for genes implicated in neurodegeneration with brain iron accumulation (NBIA) disorders. Background: The…Phenotypic Variability Across Four Generations in a Family with CACNA1A Mutation
Objective: Our objective is to describe phenotypic variability across four generations in a family with a specific CACNA1A mutation. Background: CACNA1A is a gene located…Clinical and epidemiological characterization of patients with cerebellar ataxia in a reference center in Northeastern Brazil
Objective: To describe the epidemiological and clinical characteristics of patients with cerebellar ataxia in a Movement Disorders outpatient clinic at a public reference center in…Case Series of 13 Hereditary Ataxia Patients From The Chiloe Islands, Chile.
Objective: To describe a case series of HA patients from Chiloé, identifying genetic variants and analyzing phenotypes. Background: The Chiloé Islands, located in southern Chile,…Quantifying ataxia in RFC1-related disorder using wearable devices
Objective: We aimed to compare standing balance and postural conditions between RFC1 patients and healthy controls. Background: RFC1-related ataxia is a progressive neurological disorder affecting…Co-occurrence of Spinal Muscular Atrophy Type 2 and Huntington’s Disease
Objective: To describe a unique case of co-occurring SMA2 and HD in a patient. Background: Huntington’s Disease (HD) is an autosomal dominant neurodegenerative disorder caused…
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