Article
A novel progranulin mutation associated with variable clinical presentation and tau, TDP43 and alpha-synuclein pathology.
Brain : a journal of neurology - 1 May 2007
Leverenz J B, Yu C E, Montine T J, Steinbart E, Bekris L M, Zabetian C, Kwong L K, Lee V M-Y, Schellenberg G D, Bird T D
Abstract excerpt
Mutations in the progranulin (GRN) gene have recently been reported as a cause of the frontotemporal dementia (FTD) syndrome. We performed a clinical, neuropathological and molecular genetic study of two families with FTD and the same novel mutation in GRN. Age of onset ranged from 35 to 75 years and all individuals progressed to a severe dementia syndrome with a mean disease duration of approximately 6-10 years....
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