Journal: Neural Regeneration Research
Article Title: Comprehensive clinical and genetic architecture of familial amyotrophic lateral sclerosis in China: A 15-year cohort study with 302 families
doi: 10.4103/NRR.NRR-D-24-00701
Figure Lengend Snippet: Hypothesis for the dynamic progression of disease based on ALSFRS-R scores in patients with fALS. Schematic illustration summarizing the dynamic changes in disease severity and functional scores that occur with disease progression. The fALS patients with mutations in DCTN1 , ANXA11 , HNRNPA1 , SIGMAR1 , and TARDBP tended to have an older age of onset, whereas those with mutations in P/LP genes, especially ALS2 , FUS , SOD1 , and OPTN , had a younger age of onset. The fALS patients with an earlier onset, longer diagnostic delay, higher BMI, fewer first-degree relatives, and spinal onset exhibited a slow progression of disease. By contrast, patients who had a later onset, shorter diagnostic delay, lower BMI, more first-degree relatives, bulbar onset, and a history of smoking and drinking exhibited rapid progression. ALSFRS-R: ALS functional rating scale-revised; BMI: body mass index; fALS: familial amyotrophic lateral sclerosis; P/LP: pathogenic/likely pathogenic.
Article Snippet: DCTN1 , 2p13.1 , AD , NM_004082.4 , 4.50 , Proteostasis, retrograde axonal transport , Tenuous.
Techniques: Functional Assay, Biomarker Discovery, Diagnostic Assay