Genetic and Pathological Assessment of hnRNPA1, hnRNPA2/B1, and hnRNPA3 in Familial and Sporadic Amyotrophic Lateral Sclerosis.

CONCLUSIONS: hnRNPA3 pathology was identified in motor neurons of ALS patients with C9orf72 repeat expansions, implicating hnRNPA3 in the pathogenesis of C9orf72-linked ALS. hnRNPA3 warrants further investigation into the pathogenesis of ALS linked to C9orf72. This study also determined that HNRNP mutations are not a common cause of FALS and SALS in Australia.
PMID: 29131108 [PubMed - as supplied by publisher]

Source: Neuro-Degenerative Diseases - November 11, 2017 Category: Neurology Authors: Fifita JA, Zhang KY, Galper J, Williams KL, McCann EP, Hogan AL, Saunders N, Bauer D, Tarr IS, Pamphlett R, Nicholson GA, Rowe D, Yang S, Blair IP Tags: Neurodegener Dis Source Type: research