Article
Clinical variability and female penetrance in X-linked familial FTD/ALS caused by a P506S mutation in UBQLN2.
Amyotrophic lateral sclerosis & frontotemporal degeneration - 1 Dec 2013
Vengoechea Jaime, David Marjorie P, Yaghi Shadi R, Carpenter Lori, Rudnicki Stacy A
Abstract excerpt
Amyotrophic lateral sclerosis (ALS) is a degenerative motor neuron disease leading to progressive paralysis that is generally fatal. Only 10% of cases are familial, a subset of which overlaps with frontotemporal dementia (FTD). Up to half of ALS patients have cognitive impairment, with 15% meeting the criteria for FTD. Clinical sequencing of UBQLN2 in a family with X-linked FTD/ALS with suspected incomplete...
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