Glucocerebrosidase (GBA) gene variants in a multi-ethnic Asian cohort with Parkinson's disease: mutational spectrum and clinical features.

GBA variants are associated with increased risk and earlier onset of Parkinson's disease (PD), and more rapid disease progression especially with "severe" variants typified by p.L483P. GBA mutation screening studies from South-East Asia, with > 650 million inhabitants of diverse ancestries, are very limited.

Toluene-induced leukodystrophy from glue sniffing.

A 33-year-old man with a history of chronic toluene abuse through glue sniffing, developed tremors, cerebellar signs and cognitive decline. MR scan of the brain showed global cerebral and cerebellar atrophy with symmetrical T2-weighted hypointensities in the basal ganglia, thalami and midbrain. After stopping glue sniffing, his tremors, ataxia of gait, speech and cognition partially improved.

PINK1 p.Leu347Pro mutations in Malays: Prevalence and illustrative cases.

Background: An improved understanding of the genetic determinants of Parkinson's disease (PD) in underrepresented populations, and better characterization of genotype-phenotype correlations in monogenic PD, are needed. Scarce literature exists regarding the genetic aetiology of PD in Malays, who comprise 200 million individuals in South-East Asia. Phenotypic data regarding PARK-PINK1 are also limited.