Genetic Associations with an Amyotrophic Lateral Sclerosis Reversal Phenotype

Genetic Association Study of ALS Reversal Phenotype Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease characterized by the death of upper and lower motor neurons, progressive weakness, and eventual respiratory failure. However, individual ALS patients have exhibited unusual clinical reversal phenomena, where symptoms signific...

Effect of Immunosuppression in Risk of Developing Generalized Symptoms in Ocular Myasthenia Gravis

The Effect of Immunosuppression on the Risk of Generalization in Ocular Myasthenia Gravis Background Ocular Myasthenia Gravis (OMG) is an early and localized manifestation of Myasthenia Gravis (MG), with many patients initially presenting with ocular symptoms such as fatigable ptosis and diplopia. Approximately 85% of MG patients initially exhibit ...

Incidence of Primary Progressive Apraxia of Speech and Primary Progressive Aphasia in Olmsted County, MN, 2011–2022

Study on the Incidence of Primary Progressive Apraxia of Speech and Primary Progressive Aphasia in Olmsted County (2011-2022) Background and Study Objectives Primary Progressive Aphasia (PPA) and Primary Progressive Apraxia of Speech (PPAOS) are rare neurodegenerative diseases that respectively lead to the degeneration of language abilities and spe...

Pathologic Substrates of Structural Brain Network Resilience and Topology in Parkinson Disease Decedents

Scientific Paper News Report: Pathological Basis and Topological Properties of Structural Brain Networks in Parkinson’s Disease Patients Background and Research Objectives In Parkinson’s disease (PD), α-synuclein spreads between connected brain regions, leading to neuronal loss and brain network disruption. Using diffusion-weighted imaging (DWI), t...

A Comprehensive Overview of NF1 Mutations in Iranian Patients

Comprehensive Overview of Mutations in Neurofibromatosis Type 1 Among Iranian Patients Neurofibromatosis type 1 (NF1) is a hereditary disease caused by mutations in the NF1 gene, characterized by almost complete penetrance and high phenotypic variability. This study aims to identify NF1 mutations in Iranian patients using whole-genome exome sequenc...