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…Predictors of quality of life in Machado-Joseph disease: A longitudinal observational study
Objective: Determine the influence of clinical symptoms on QoL in patients with Machado-Joseph disease (MJD). Background: MJD is a rare inherited neurodegenerative disorder. Its phenotypical expression…Prevalence of Neurodegenerative movement disorders in different clinical Practices of Hyderabad, Pakistan
Objective: The main objective of current study was to determine the rate of prevalence of neurodegenerative movement disorders at different clinical practices in Hyderabad, Pakistan.…A safety, tolerability and biomarker update from an ongoing open-label extension study of RG6042 in adults with early manifest Huntington’s disease
Objective: To present the safety, tolerability and biomarker effects of RG6042 (previously, IONIS-HTTRX) during an open-label extension (OLE) study in adults with early manifest Huntington’s…A hexanucleotide repeat within a SINE-VNTR-Alu retrotransposon inserted in TAF1 modifies expressivity of X-linked dystonia-parkinsonism
Objective: To investigate the role of a hexanucleotide repeat within a SINE-VNTR-Alu (SVA) retrotransposon insertion in the TAF1 gene in modifying expressivity of X-linked dystonia-parkinsonism…Cockayne Syndrome manifesting as late adult onset cerebellar ataxia: expanding the phenotype
Objective: To report an atypical case of Cockayne Syndrome manifesting as pure adult onset cerebellar ataxia. Background: Cockayne Syndrome (CS) is a rare autosomal recessive…
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