Article
Screening in ALS and FTD patients reveals 3 novel UBQLN2 mutations outside the PXX domain and a pure FTD phenotype.
Neurobiology of aging - 1 Dec 2012
Synofzik Matthis, Maetzler Walter, Grehl Torsten, Prudlo Johannes, Vom Hagen Jennifer Müller, Haack Tobias, Rebassoo Piret, Munz Marita, Schöls Ludger, Biskup Saskia
Abstract excerpt
Mutations in UBQLN2 have recently been shown to cause dominant X-linked amyotrophic lateral sclerosis (ALS) and ALS plus frontotemporal dementia (FTD). Information on their frequency in different populations is still rare, and a pure FTD phenotype has not yet been reported. Moreover, the mutational spectrum of known UBQLN2 mutations is still limited to its PXX repeat region. Based on a screening of 206 ALS and...
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