Theory of mind in patients with cerebellar neurodegenerative disorders
Objective: The aim of this study was to investigate theory of mind (ToM) in patients with different cerebellar neurodegenerative disorders (CD). Background: CD are a…HSP-SPG5A/CYP7B1: unusual clinical and genetic characteristics in an Indian family
Objective: To carry out a clinical and genetic study of a large Indian family emigrated in Italy with autosomal dominant hereditary spastic paraplegia (ADHSP). Background:…Characterizing Racial and Ethnic Diversity Among Enroll-HD Participants in the US and Canada
Objective: To characterize racial and ethnic diversity among Huntington’s disease (HD) gene expansion carriers (GECs) in the Enroll-HD study in the US and Canada. Background:…Cost of Predictive Genetic Testing for Huntington’s Disease at Centers of Excellence in the US
Objective: To characterize the cost of Huntington’s disease predictive genetic testing at Centers of Excellence in the US. Background: Despite the availability of predictive genetic…Spinal Excitability and Plasticity in Hereditary Spastic Paraparesis: A Neurophysiological Study
Objective: To investigate spinal excitability and plasticity in patients with pure hereditary spastic paraparesis (HSP). Background: Pure HSP (SPG4) is a neurodegenerative disorder characterized by…EIF4G1 gene variants in a family affected by Parkinson´s disease
Objective: Describe a novel mutation on a family affected by Parkinson´s disease. Background: 46 years old woman. She came to hospital complaining about tremor and…Genotypic and phenotypic spectrum of PINK-1 associated parkinsonism in 44 mutation carriers from 11 Tunisian families
Objective: To characterize the family history and clinical features of mutations of the PINK-1 gene in a cohort of Tunisian patients with Parkinson disease (P.D)…Epidemiology of Huntington’s Disease (HD) in the US Medicaid Population
Objective: To estimate the current prevalence of Huntington’s disease (HD) among Medicaid beneficiaries in the United States (US). Background: HD is a genetic, progressive, neurodegenerative…Healthcare Utilization and Cost Burden at the End-of-Life Among Medicare Beneficiaries with Huntington’s Disease
Objective: To examine healthcare utilization (HCU) and costs occurring at the end of life among deceased Medicare beneficiaries who were diagnosed with Huntington’s disease (HD).…Longitudinal dynamics of mutant huntingtin and neurofilament light in Huntington’s disease: the prospective HD-CSF study
Objective: To present the mutant huntingtin (mHTT) and neurofilament light (NfL) findings from the two-year prospective longitudinal HD-CSF study, in which an 80-participant cohort of…
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