Phenotypes in Swiss Patients with Familial ALS Carrying TARDBP Mutations.

Conclusion: In this Swiss population, the frequency of familial ALS is higher than reported earlier in other populations. The novel p.Gly376Asp TARDBP mutation is associated with rapid disease progression and may be associated with an accessory nipple while the p.Asn352Ser mutation is associated with slow disease progression.
PMID: 23327806 [PubMed - as supplied by publisher]

Source: Neuro-Degenerative Diseases - January 10, 2013 Category: Neurology Authors: Czell D, Andersen PM, Morita M, Neuwirth C, Perren F, Weber M Tags: Neurodegener Dis Source Type: research