A Korean first case of Boucher-Neuhäuser syndrome with two novel mutations of PNPLA6 gene
Objective: To report a patient who presented with hypogonadotropic hypogonadism, chorioretinal dystrophy, and cerebellar ataxia. He has 2 missense variant mutations of PNPLA6. Background: Boucher-Neuhäuser…Longitudinal Utility of the Montreal Cognitive Assessment and Mini Mental State Exam in Huntington’s disease (HD)
Objective: Neuropsychological assessments are useful tools for examining and tracking cognitive impairment in individuals with neurological disorders; however, a full neuropsychological battery is not realistic…The genetic study of hereditary chorea in Kazakhstan
Objective: To analyze the genetic background of hereditary chorea in Kazakhstani population. Background: Hereditary chorea (HC) is a group of inherited movement disorders presenting with…Biological and Clinical Manifestations of Huntington’s disease in Gene Carriers Very Far from Predicted Onset: The Young Adult Study
Objective: To perform a deep phenotyping of a Huntington’s Disease (HD) cohort further from onset than previously studied to establish when disease related markers first…MRI findings in a 65-year old female with movement disorder
Objective: We reported a 65-year-old woman presented with dysarthria, chorea, facial and neck dystonia. Background: Aceruloplasminemia is an autosomal recessive disorder characterized by progressive neurodegeneration,…Oral treatment of the SOD1G93A transgenic mouse model of amyotrophic lateral sclerosis (ALS) with the neuro-inflammation inhibiting compound PRI-003
Objective: Demonstration of beneficial effects of neuro-inflammation inhibition for the treatment of amyotrophic lateral sclerosis (ALS). Background: Neuro-inflammation and immune-inflammatory processes are characteristics of the…Undiagnosed Neuropathology In Fallers: Findings from a 10-year Autopsy Series
Objective: To examine the range of neuropathology in people who die from a fall compared to those who die in alternate circumstances. Background: The neural…Are functional movement disorder phenotypes or age at onset correlated with perfectionist personality trait or history of abuse?
Objective: To assess if the phenotype or age at onset of Functional movement Disorders (FMD) vary as a function of presence of a perfectionist personality…Are New York City rail tracks harbingers for Parkinson’s disease?
Objective: To describe the clinical features of 7 New York City Metropolitan Transit Authority (NYC MTA) rail-track workers with Parkinson’s disease (PD) presenting to a…Role of Sex in Parkinson’s Disease Progression
Objective: To investigate the sex differences for disease progression in Parkinson’s disease (PD). Background: Prevalence and symptom profile in PD differ between women and men.…
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