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Specific PHGKB|Neurological Disorders PHGKB|PHGKB

Last Posted: Oct 16, 2021
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The missing X factor in Alzheimer disease
MT Ferretti et al, Nat Rev Neurology, October 2021

Two-thirds of patients with Alzheimer disease (AD) are women, and sex differences in AD pathology have been observed, yet little is known about the role of sex chromosomes in AD. New research suggests that X-linked gene expression modifies AD risk in a sex-specific manner. This knowledge could aid the development of precision medicine approaches for AD.

Safety and Efficacy of Flexible-Dose Deutetrabenazine in Children and Adolescents With Tourette Syndrome A Randomized Clinical Trial
J Jancovic et al, JAMA Network Open, October 5,2021

In this randomized clinical trial of 119 children and adolescents receiving deutetrabenazine or placebo, no significant differences in tic severity were observed at the end of the study period. Treatment-emergent adverse events were generally mild or moderate in severity.

Muscular Dystrophy
CDC, 2021

Muscular dystrophies are a group of genetic disorders that result in muscle weakness over time. Each type of muscular dystrophy is different from the others. It is important to get help as early as possible. Muscular dystrophy has no cure, but acting early may help an individual with muscular dystrophy get the services and treatments he or she needs to lead a full life.

A genome-wide association study with 1,126,563 individuals identifies new risk loci for Alzheimer's disease.
Wightman Douglas P et al. Nature genetics 2021 9 (9) 1276-1282

Late-onset Alzheimer's disease is a prevalent age-related polygenic disease that accounts for 50-70% of dementia cases. Currently, only a fraction of the genetic variants underlying Alzheimer's disease have been identified. Here we show that increased sample sizes allowed identification of seven previously unidentified genetic loci contributing to Alzheimer's disease. This study highlights microglia, immune cells and protein catabolism as relevant to late-onset Alzheimer's disease, while identifying and prioritizing previously unidentified genes of potential interest. We anticipate that these results can be included in larger meta-analyses of Alzheimer's disease to identify further genetic variants that contribute to Alzheimer's pathology.

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