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…Adaptor Protein Complex 4-associated Hereditary Spastic Paraplegia (AP-4-HSP): A Paradigm of Childhood-Onset Hereditary Spastic Paraplegia Caused By Defective Protein Trafficking
Objective: Aims of this study include: 1) to generate induced pluripotent stem cell (iPSC)-derived neurons from patients with AP-4-associated HSP; 2) to characterize these neurons…Clinical and genetic heterogeneity in Indian subcontinent patients with Autosomal Dominant Spinocerebellar Ataxia 42
Objective: We describe the case of a family of 2 female siblings of Indian subcontinent with genetically proven SCA 42 Background: Spinocerebellar ataxia (SCA) are…Spinocerebellar degeneration in Minami-Boso area of Japan – A hospital-based retrospective analysis
Objective: Elucidate the present status of clinical practice for spinocerebellar degeneration (SCD) in Minami-Boso area to plan future direction for managing this intractable condition. Background:…SNCA G51D missense mutation causing juvenile onset Parkinson’s disease
Objective: To report the clinical and genetic features in a Parkinson’s patient with the SNCA G51D missense mutation. Background: α-synuclein (SNCA) gene mutations are recognized…Targeted NGS of genes related to hereditary and sporadic NDDs and movement disorders in Italian cohort
Objective: We applied a genetic panel targeting genes causative of NDDs, but we also included several risk factor genes, to assess the efficacy of a targeted…
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