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…Detection and characterization of rare variants in NOTCH2NLC causing false negative molecular diagnosis through long-read sequencing
Objective: This study investigated a NIID patient with typical clinical and imaging features but no detectable NOTCH2NLC GGC expansion using standard testing. Whole-genome long-read sequencing…Huntington-like disease type 2 caused by a JPH3 repeat expansion in a patient from Iraq
Objective: To report the case of a patient from Iraq with a Huntington disease-like phenotype who was found to have a heterozygous trinucleotide repeat expansion…The identification of two novel intronic variants of the SPG4/SPAST gene with pathogenic effect reveals a novel genotype-phenotype correlation
Objective: To perform clinical and genetic analysis of two large families with autosomal dominant hereditary spastic paraplegia (ADHSP). Background: Hereditary spastic paraplegia (HSP) is a…Case Report of a Brazilian Family With New VUS for PLAN
Objective: The aim is to describe a Brazilian family with new VUS of PLA2G6 in two brothers with clinical symptoms of PLAN. Background: PLAN is…Parkinson’s disease (PD) associated with the E46K mutation in the SNCA gene, twenty years after
Objective: To provide an updated overview of Parkinson’s disease (PD) associated with E46K mutation carriers in the SNCA gene 20 years after its description, incorporating…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…
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