With the hope that disease-modifying treatments could target the molecular basis of
Parkinson's disease, even before the onset of symptoms, we propose a biologically based …

Dystonia is a clinically and genetically highly heterogeneous neurological disorder
characterized by abnormal movements and postures caused by involuntary sustained or …

Adult-onset cerebellar ataxias are a group of neurodegenerative conditions that challenge
both genetic discovery and molecular diagnosis. In this study, we identified an intronic (GAA) …

Estimates of the spectrum and frequency of pathogenic variants in Parkinson's disease (PD)
in different populations are currently limited and biased. Furthermore, although therapeutic …

Dominantly inherited GAA repeat expansions in FGF14 are a common cause of
spinocerebellar ataxia (GAA-FGF14 ataxia; spinocerebellar ataxia 27B). Molecular …

The biological basis of the neurodegenerative movement disorder, Parkinson's disease
(PD), is still unclear despite it being 'discovered'over 200 years ago in Western Medicine …

Background More than 50 loci are associated with spinocerebellar ataxia (SCA), and the
most frequent subtypes share nucleotide repeats expansion, especially CAG expansion …

Parkinson's disease (PD) is a global health challenge, yet historically studies of PD have
taken place predominantly in European populations. Recent genetics research conducted in …

Abstract PLA2G6-associated neurodegeneration (PLAN) represents a continuum of
clinically and genetically heterogeneous neurodegenerative disorders with overlapping …

Background Identifying hereditary parkinsonism is valuable for diagnosis, genetic
counseling, patient prioritization in trials, and studying the disease for personalized …