KIF5A and ALS: a clinical and genetic description of a case series and review of literature - PubMed
5 hours ago
- #genetics
- #ALS
- #KIF5A
- Approximately 10% of ALS cases are familial, while 90% are sporadic.
- KIF5A was identified as a novel ALS-associated gene in 2018.
- A study of 224 patients with motor neuron disease (MND) found eight carrying KIF5A variants.
- Among the eight patients, four had familial ALS and four were sporadic cases.
- 75% of the KIF5A variant carriers were female, with a mean age of onset at 59 years.
- Disease progression varied, with five patients being slow-progressors and three fast-progressors.
- Three of the seven KIF5A variants identified were previously undescribed in literature.
- Two patients had KIF5A variants alongside mutations in other ALS genes, including a pathogenic FUS variant.
- The study highlights phenotypic variability linked to mutations in different regions of the KIF5A gene.