LRRK2 G2019S mutation amplifies protein aggregate propagation
نویسندگان
چکیده
This scientific commentary refers to ‘LRRK2 G2019S kinase activity triggers neurotoxic NSF aggregation’, by Pischedda et al. (doi: 10.1093/brain/awab073).
منابع مشابه
Clinical heterogeneity of the LRRK2 G2019S mutation.
BACKGROUND Several pathogenic mutations have been reported in the leucine-rich repeat kinase 2 gene (LRRK2) that cause parkinsonism. The "common" LRRK2 G2019S kinase domain substitution has been reported to account for approximately 5% of familial and 1% of sporadic Parkinson disease. OBJECTIVE To observe the clinical heterogeneity presented by LRRK2 kinase mutation carriers. DESIGN, SETTIN...
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Comment. Possessing an APOE ε4 allele is the most important genetic risk factor yet identified for sporadic AD and also significantly lowers onset age. It is therefore striking that despite their young age at onset, only 2 of our 10 biparietal patients were ε4-positive. While we believe that a lack of association between biparietal AD (or posterior cortical atrophy AD) and APOE ε4 genotype has ...
متن کاملOlfactory identification in LRRK2 G2019S mutation carriers: a relevant marker?
OBJECTIVE Olfactory impairment is a potential marker for impending phenoconversion to Parkinson disease (PD) that may precede the development of disease by several years. Because of low specificity, it may be of greater predictive value in those with genetic mutations and its potential as a marker for developing LRRK2 PD should be evaluated. METHODS We examined olfactory identification in 126...
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To test for an association between the LRRK2-G2019S mutation and gait, we studied 52 first-degree relatives of patients with Parkinson's disease (PD) who carry this mutation. An accelerometer quantified gait during usual-walking, fast-walking, and dual-tasking. Noncarriers (n = 27) and carriers (n = 25) were similar with respect to age, gender, height, and gait speed during all conditions. Duri...
متن کاملThe G2019S LRRK2 Mutation is Rare in Korean Patients with Parkinson's Disease and Multiple System Atrophy
BACKGROUND AND PURPOSE The LRRK2 (PARK8; OMIM607060) substitution was recently identified as a causative mutation for Parkinson's disease (PD). The pathologic heterogeneity of LRRK2-positive patients suggests that mutation of the LRRK2 gene is associated with the pathogenesis of PD and Parkinson-plus disorders, such as multiple system atrophy (MSA). We previously reported that the G2019S LRRK2 ...
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ژورنال
عنوان ژورنال: Brain
سال: 2021
ISSN: ['1460-2156', '0006-8950']
DOI: https://doi.org/10.1093/brain/awab146