NEK1 Variants and Protein Levels in Chinese ALS Patients

8 NEK1 variant carriers were identified among 378 Chinese ALS patients. Xiaodan Chen authored this descriptive study, which includes protein quantification from leukocytes and a systematic review of published NEK1-ALS cases. The dataset was last updated on May 21, 2026.

Use Cases

• Analyze the prevalence of NEK1 variants in ALS patients based on the screening of 378 individuals.
• Explore correlations between peripheral NEK1 protein levels and clinical progression rates based on western blot data.
• Compare variant spectra and co-mutation profiles across different populations based on the systematic narrative review.
• Generate hypotheses for biomarker validation studies based on the exploratory protein-level observations.

Strengths

• Includes protein quantification data from leukocytes for variant carriers.
• Compares findings with a systematic review of published NEK1-ALS cases.
• Provides a descriptive overview of NEK1 variants in a specific Chinese ALS cohort.

Limitations

• The sample size is small, with only 8 variant carriers identified.
• Protein measurements were from peripheral leukocytes at heterogeneous sampling times without adjustment for major clinical confounders.
• Column-level documentation is absent; field semantics must be inferred after download.

Provenance

Source

figshare

Collection Method

Screening of 378 ALS patients, retrospective clinical review, western blot protein quantification, and systematic literature review.

Freshness

Last updated 2026-05-21 05:42:32; freshness should be verified.

Geography

Chinese ALS cohort