ALS8/VAPB p.Pro56Ser: Clinical Characterization of 78 Patients

78 patients with the rare familial motor neurone disease ALS8 were analyzed to characterize its clinical profile. The dataset includes median age at onset (44.9 years), survival (21.9 years), and progression to functional milestones like wheelchair dependence. Christian Marques Couto published this retrospective study on figshare in May 2026.

Use Cases

• Model disease progression timelines based on reported survival and functional milestone data.
• Analyze the prevalence and impact of upper motor neurone signs based on the composite assessment described.
• Study genotype-phenotype correlations for the VAPB p.Pro56Ser mutation using the clinical profiles of 57 families.
• Benchmark clinical trial endpoints using the reported natural history metrics like time to noninvasive ventilation.

Strengths

• Clinical data from 78 patients with molecularly or familially confirmed ALS8 diagnosis.
• Includes specific survival and progression metrics, such as a median survival of 21.9 years and time to wheelchair dependence of 7.0 years.
• Assesses upper motor neurone signs using a defined five-item composite of pyramidal signs.

Limitations

• Row count is unknown, which may limit suitability assessment.
• Column-level documentation is absent; field semantics must be inferred after download.
• Data is from a retrospective study of a rare disease, which may reflect inherent selection bias.

Provenance

Source

figshare

Collection Method

Retrospective analysis of patients confirmed via molecular testing or familial linkage analysis.

Freshness

Last updated 2026-05-21 17:49:47; freshness should be verified.