Brown, J., Gydesen, S., Sorensen, S. A., Brun, A., Smith, S., Houlden, H., Twells, R.,
Mullan, M., Rossor, M., Collinge, J., & et al (1993). Genetic characterization of a
familial non-specific dementia originating in Jutland, Denmark. Journal of the
Neurological Sciences, 114, 138-143.
Adr.: Department of Biochemistry and Molecular Genetics, St. Mary's Hospital Medical School, London, UK ;
ABSTRACT: 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
Brown, J., Gydesen, S., Sorensen, S. A., Brun, A., Duff, K., Houlden, H., Fidani, L.,
Kullkarni, S., Cummings, J., Goate, A., & et al. (1993). Exclusion mapping in familial
non-specific dementia. Dementia, 4, 163-166.
Adr.: Department of Biochemistry and Molecular Genetics, St. Mary's Hospital Medical School, London, UK
ABSTRACT: We present genetic linkage data in a large family in which non-specific dementia is inherited as an autosomal dominant trait. We have analyzed 45 highly polymorphic microsatellite sequences and excluded a quarter of the genome as the site of the pathogenic mutation in this family