LRRK2 variation and Parkinson's disease in African Americans

Abstract

The global impact of LRRK2 mutations is yet to be realized with a lack of studies in specific ethnic groups, including those of Asian and African descent. Herein we investigated the frequency of common LRRK2 variants by complete exon sequencing in a series of publicly available African American Parkinson's disease patients. Our study identified three novel synonymous exonic NIH-PA Author ManuscriptNIH-PA Author Manuscript NIH-PA Author Manuscript variants and thirteen known coding variations however, there did not appear to be any frequent (>5%) pathogenic mutations. Given the ethnic-specific LRRK2 variation previously identified in PD further studies in under-represented populations are warranted.

Superficial warming and cooling of the leg affects walking speed and neuromuscular impairments in people with spastic paraparesis

“…Our HSSP participants showed increased corticospinal tract conduction time, which agrees with the axonal degeneration reported on MRI and diffusion tensor imaging as well as post-mortem in this population [22][23][24]. At baseline, spasticity (stretch reflex size) and passive stiffness were greater, MVC in dorsiflexor and plantarflexor muscles lower and walking speeds slower for HSSP than control participants, which agrees with previous reports [15,25,26].…”

Prevalence of ten LRRK2 variants in Parkinson's disease: A comprehensive review

“…The results were bimodal. Studies from nine countries (Austria, Greece, Hungary, India, Iran, Israel, Mexico, Slovakia, and the United States) reported zero G2385R carriers from a total sample of 1,367 PD cases [62,64,68,78,79,81,[87][88][89]. Studies from the other six countries yielded pooled prevalence estimates of 11.2% (Japan), 10.3% (China), 9.9% (South Korea), 9.7% (Taiwan), 5.9% (Singapore), and 1.2% (Kazakhstan) from a total sample of 13,087 PD cases [46][47][48]57,63,[90][91][92][93][94][95][96][97][98][99][100][101][102][103][104][105][106][107].…”

“…The results for R1628P were also bimodal. Studies from seven countries (Hungary, Iran, Israel, Japan, Kazakhstan, Slovakia, and the United States) reported zero R1628P carriers from a total sample of 1,656 PD cases [48,57,62,64,78,81,87,108]. Studies from the other four countries yielded pooled prevalence estimates of 11.1% (Thailand), 7.5% (Taiwan), 5.4% (Singapore), and 5.3% (China) from a total sample of 6,264 PD cases [55,63,91,95,102,104,[109][110][111][112][113].…”

Parkinson’s Disease in African Americans: A Review of the Current Literature

“…However, extrapolation of any findings to a larger patient population is difficult with small sample sizes. [32,33].…”