Info

Ch 8q

Autosomal recessive

swellings and axonal degeneration, with marked loss of both large and small myelinated fibers. These findings extend the spectrum of FALS and JALS to include a slowly progressive, autosomal-dominant, nonfatal but debilitating disease.

To date, deletion/insertion mutations in the KSP repeat motif of the neurofilament (NF)-H tail domain have been identified in 10 of 1047 patients with sporadic ALS and in 1 of295 FALS patients. Although they are considered a risk factor, there is no direct evidence that mutations of NF genes are a primary cause of ALS. In a subset of patients with sporadic ALS, levels of EAAT2 protein were reduced compared to those of controls and individuals who died of other neurodegenerative diseases. In 17 of 28 cases of ALS, aberrant EAAT2 mRNA was found; significantly, lower levels of the EAAT2 protein were observed in these same tissue samples. Functional studies indicated that the mutant RNA species led to a dominant downregulation of EAAT2 protein synthesis. However, recent studies indicate that these aberrant RNA species were also observed in control cases. Further work is under way to clarify the importance of aberrant EAAT2 mRNA in the pathogenesis of sporadic ALS. Finally, a locus for disease has also been identified on the X chromosome in at least one ALS family.

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