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This article explores the challenges and opportunities surrounding genetic testing for Parkinson's disease and other movement disorders in low- and middle-income countries (LMICs). Limited availability and accessibility of genetic testing services, along with financial constraints and limited test options, pose significant barriers in these areas. The shortage of healthcare professionals specializing in neurology, movement disorders, clinical genetics, and genetic counseling further hampers access to genetic testing. Cultural factors, health literacy, and ethical considerations also influence the acceptability of genetic testing. The article proposes various strategies to overcome these barriers, including improving education and training programs for both patients and healthcare professionals, disseminating information through culturally appropriate channels, and advocating for equitable access to genetic testing in LMICs. [Extracted from the article]

AbstractObjectiveMethodsResultsConclusionTo apply the multistep model of pathogenesis in amyotrophic lateral sclerosis (ALS) to data from a multiethnic Malaysian registry.Clinical data, including age at symptom onset, was collected from 289 patients who presented to our multidisciplinary clinic from 2016 until 2024. A least squares linear regression model was constructed from the logarithm of approximated incidence and the logarithm of age. Population incidence was approximated by adjusting the absolute numbers of patients in 5 year groups by the size of the general population in the respective age group.A linear relationship between log of incidence versus log of age was observed, with a slope of 4.57 (95% CI, 3.3–5.8) and an r2 value of 0.93, suggesting a 6-step process.Progression toward symptom onset in Malaysian ALS patients appears consistent with a multistep model of disease as observed in other cohorts. [ABSTRACT FROM AUTHOR]

Background Objectives Methods Results Conclusions Progressive supranuclear palsy (PSP) is largely a sporadic disease with few reported familial cases. Genome‐wide association studies (GWAS) in sporadic PSP in Caucasian populations have identified MAPT as the most commonly associated genetic risk locus with the strongest effect size. At present there are limited data on genetic factors associated with PSP in Asian populations.Our goal was to investigate the genetic factors associated with PSP in Southeast Asian PSP patients.Next‐generation sequencing (whole‐exome, whole‐genome and targeted sequencing) was performed in two Asian cohorts, comprising 177 PSP patients.We identified 17 pathogenic or likely pathogenic variants in 16 PSP patients (9%), eight of which were novel. The most common relevant genetic variants identified were in MAPT, GBA1, OPTN, SYNJ1, and SQSTM1. Other variants detected were in TBK1, PRNP, and ABCA7—genes that have been implicated in other neurodegenerative diseases. Eighteen patients had a positive family history, of whom two carried pathogenic MAPT variants, and one carried a likely pathogenic GBA1 variant. None of the patients had expanded repeats in C9orf72. Furthermore, we found 16 different variants of uncertain significance in 21 PSP patients in PSEN2, ABCA7, SMPD1, MAPT, ATP13A2, OPTN, SQSTM1, CYLD, and BSN.The genetic findings in our PSP cohorts appear to be somewhat distinct from those in Western populations, and also suggest an overlap of the genetic architecture between PSP and other neurodegenerative diseases. Further functional studies and validation in independent Asian cohorts will be useful for improving our understanding of PSP genetics and guiding genetic screening strategies in these populations. © 2024 International Parkinson and Movement Disorder Society. [ABSTRACT FROM AUTHOR]