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:…Movement disorders in a family carrying ATP7A variant
Objective: To report an early onset parkinsonism in a family carrying a pathogenic variant in the ATP7A gene. Background: ATP7A variants cause Menkes disease (MD), a…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…Variants in the saposin D domain of prosaposin gene are linked to Parkinson’s disease
Objective: To investigate whether the variants of prosaposin can be linked to Parkinson's disease (PD) [1]. Background: Recent growing investigations have promoted the evidence of…Clinical and genetic profile of Familial Parkinson´s disease in Cali – Colombia
Objective: This study aims to describe the genetic and clinical profile of 32 subjects with familial PD using NGS genetic panel and eMotion software system…Profile of non motor symptoms in familial Parkinson’s disease
Objective: Non motor symptoms have a significant contribution to the quality of life of patients with Parkinson’s disease.The aim of the study was to assess the…Cortical Activation during Dynamic Sway of young Fragile X Premutation Carriers
Objective: To investigate changes in cortical activity of fragile X premutation carriers during self-paced sway to the limit of stability. Background: The fragile X premutation…
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