Memphis, Tennessee, United States of America
  •  5
    A novel mutation P112H in the TARDBP gene associated with frontotemporal lobar degeneration without motor neuron disease and abundant neuritic amyloid plaques
    with F. Moreno, G. D. Rabinovici, A. Karydas, Z. Miller, S. C. Hsu, A. Legati, J. Fong, D. Schonhaut, H. Esselmann, C. Watson, M. L. Stephens, J. Wiltfang, W. W. Seeley, B. L. Miller, G. Coppola, and L. T. Grinberg
    Although TDP-43 is the main constituent of the ubiquitinated cytoplasmic inclusions in the most common forms of frontotemporal lobar degeneration, TARDBP mutations are not a common cause of familial frontotemporal dementia, especially in the absence of motor neuron disease.We describe a pedigree presenting with a complex autosomal dominant disease, with a heterogeneous clinical phenotype, comprising unspecified dementia, parkinsonism, frontotemporal dementia and motor neuron disease. Genetic ana…Read more