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Amyotrophic lateral sclerosis (ALS) is a continuous degeneration of upper and lower motor neurons
According to reports, several genes can cause ALS and FTD
The GBA gene encodes glucocerebrosidase (GCase), a lysosomal enzyme that converts glucocerebrosides into glucose and ceramide
This article was published in the " Journal of Neurology, Neurosurgery & Psychiatry " ( Journal of Neurology, Neurosurgery & Psychiatry )
A study on the correlation between GBA variants and the risk of cognitive impairment was conducted on 751 patients with ALS, and they received detailed neuropsychological evaluation and whole-genome sequencing screening
A study on the correlation between GBA variants and the risk of cognitive impairment was conducted on 751 patients with ALS, and they received detailed neuropsychological evaluation and whole-genome sequencing screening
First, use a binomial test to assess the prevalence of GBA mutations in patients with cognitive decline.
Cognitive phenotype frequency of GBA risk variant carriers
A GBA mutation known to cause Gaucher disease in homozygous carriers, a possible pathogenic variant (p.
A GBA mutation known to cause Gaucher disease in homozygous carriers, a possible pathogenic variant (p.
It has been observed that the burden of rare variants in the GBA gene is associated with cognitive impairment in patients with ALS
In summary, this article found that GBA gene mutations are associated with an increased risk of cognitive impairment in ALS patients
The results of the study broaden the range of genetic factors that regulate the susceptibility of cognitive dysfunction in ALS patients, and strengthen the role of lysosomal damage in the potential neurodegeneration of ALS, emphasizing that genes can not only change the risk of ALS, but can also regulate Research results on different aspects of its phenotype broaden the range of genetic factors that regulate the susceptibility of cognitive dysfunction in ALS patients, and strengthen the role of lysosomal damage in the potential neurodegenerative process of ALS, emphasizing that genes can not only change ALS It can also regulate different aspects of its phenotype anosaA ,GrassanoM ,MogliaC anosa A anosa Grassano M Grassano Moglia C Moglia , et al GBA variants influence cognitive status in amyotrophic lateral sclerosis Journal of Neurology, Neurosurgery & Psychiatry Published Online First: 28 September 2021.
Published Online First: doi: 10.
1136/jnnp-2021-327426 doi:
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