Suicidal Ideation and Behavior in Parkinson’s Disease: A Systematic Review and Meta-Analysis
Objective: Parkinson’s disease (PD) is a progressive neurodegenerative disorder that affects both motor and non-motor neurological functions. In addition to motor impairment, patients frequently experience…RTN2 Variants Expand the ALS–Hereditary Spastic Paraplegia Disease Spectrum
Objective: To investigate the clinical and molecular characteristics of amyotrophic lateral sclerosis (ALS) families carrying variants in the RTN2 gene (SPG12), associated with hereditary spastic…Ataxia as the Primary Symptom of Leber Hereditary Optic Neuropathy: A Case Report of a Patient and Family Observation
Objective: To highlight the possibility of ataxia developing as the primary symptom of Leber hereditary optic neuropathy (LHON). Background: LHON is a mitochondrial disorder characterized…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…
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