FUS R521S mutation causing levodopa responsive amyotrophic lateral sclerosis-Parkinson’s disease (ALS-PD).
Objective: The coexistence of Parkinson's disease (PD) and ALS is uncommon. This overlap syndrome, characterized by levodopa-responsive parkinsonism in the context of ALS, has been…Too Weak to Stand, Too Stiff to Fall: Overlap Syndrome of Stiff-Person-Syndrome and Anti-HMGCR Necrotizing Myopathy. Case report.
Objective: To report the first case of OVERLAP SYNDROME of Stiff-Person Syndrome (SPS) with anti-HMGCR Immune-mediated necrotizing myopathy. Background: Stiff Person Syndrome (SPS) is a…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…Expanding the Geographic Spectrum of Guam Complex: A Case Report from Colombia
Objective: To describe the case of a patient presenting with a progressive neurodegenerative syndrome characterized by the coexistence of dementia, parkinsonism, and motor neuron disease.…Concomitant Progressive Supranuclear Palsy and Amyotrophic Lateral Sclerosis Versus Motoneuron Phenotype of PSP in Ukrainian Patient
Objective: To provide a description of a rare case of mixed progressive supranuclear palsy (PSP) and amyotrophic lateral sclerosis (ALS) in Ukrainian patient. Background: The…Parkinson’s disease overlapping with other neurodegeneration-case series with neuropathological description.
Objective: The aim of the study is to report Parkinson’s disease (PD) case series with co-occurening amyotrophic lateral sclerosis (ALS) and neuropathologically characterize one case.…OPTN gene associated with corticobasal syndrome: a novel multi-exon deletion and literature review
Objective: To describe a novel case of OPTN multiexon deletion causing a peculiar CBS-ALS phenotype. Background: While traditionally classified as distinct clinical entities, corticobasal syndrome…Unraveling the Role of Short Tandem Repeats in Parkinson’s disease, Essential tremor, and Amyotrophic lateral sclerosis: A Large Chinese Cohort Study
Objective: This study investigates the prevalence and impact of short tandem repeat (STR) mutations in the next-generation sequencing data of patients with Parkinson’s disease (PD), essential…Tremors and More: A Case Report of TBK1 Mutation and Electrophysiological Assessment
Objective: TBK1 mutations have been associated with a range of neurological disorders, but their association with tremor is not well-documented. Here, we present a case…Detailed illustration of a Turkish patient with homozygous C19ORF12 mutation
Objective: To illustrate a rare Turkish patient with homozygous C19ORF12 mutation and discuss limitations regarding the current terminology and classification. Background: Neurodegeneration with brain iron…
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