NR ABTL
AU Brown,J.; Gydesen,S.; Sorensen,S.A.; Brun,A.; Smith,S.; Houlden,H.; Twells,R.; Mullan,M.; Rossor,M.; Collinge,J.; Palmer,M.; Goate,A.; Hardy,J.
TI Genetic characterization of a familial non-specific dementia originating in Jutland, Denmark
QU Journal of the Neurological Sciences 1993 Feb; 114(2): 138-43
PT journal article
AB Dementias with non-specific pathological changes are a relatively common but under diagnosed form of presenile dementia. A high proportion of reported cases are familial. We report on molecular genetic findings in the largest known pedigree with this syndrome. We have excluded the mutations known to cause familial prion disease, APP-linked familial Alzheimer's disease and candidate regions for Huntington's disease, other forms of Alzheimer's disease and motor neuron disease. We have demonstrated that familial non-specific dementia is a novel genetic dementia.
MH Aged; Brain/physiopathology/radionuclide imaging; Child; DNA/genetics; DNA, Satellite/genetics; Dementia/*genetics/pathology/physiopathology; Denmark; Electroencephalography; Female; Genetic Markers; Human; Linkage (Genetics); Male; Middle Age; Pedigree; Support, Non-U.S. Gov't; Tomography, X-Ray Computed
AD Jeremy Brown, John Collinge, Alison Goate, John Hardy, Henry Houlden, Michael Mullan, Mark Palmer, Simon Smith, Rebecca Twells, Department of Biochemistry and Molecular Genetics, St. Mary's Hospital Medical School, Norfolk Place, London W2 1PG, UK; Susanne Gydesen, Sven Asger Sorensen, Institute of Medical Genetics, Panum Institute, University of Copenhagen, Copenhagen, Denmark; Arne Brun, Department of Neuropathology, University Hospital, S-221 85, Lund, Sweden; Jeremy Brown, John Collinge, Martin Rossor, Department of Neurology, St. Mary's Hospital, Praed St., London W2 1NF, UK
SP englisch
PO Niederlande