Hereditary dysphasic disinhibition dementia : A frontotemporal dementia linked to 17q21-22

• Published in: Neurology Vol. 50; no. 6; pp. 1546 - 1555
• Main Authors: LENDON, C. L, LYNCH, T, WILHELMSEN, K. C, HANSEN, L, MORRIS, J. C, GOATE, A. M, NORTON, J, MCKEEL, D. W, BUSFIELD, F, CRADDOCK, N, CHAKRAVERTY, S, GOPALAKRISHNAN, G, SHEARS, S. D, GRIMMETT, W
• Format: Journal Article
• Language: English
• Published: Hagerstown, MD Lippincott Williams & Wilkins 01-06-1998
• Subjects: Adult; Aged; Aged, 80 and over; Alzheimer Disease - genetics; Biological and medical sciences; Cadaver; Chromosome Mapping; Chromosomes, Human, Pair 17 - genetics; Chromosomes, Human, Pair 3 - genetics; Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases; Dementia - diagnosis; Dementia - genetics; Frontal Lobe - pathology; Frontal Lobe - physiopathology; Genetic Linkage - genetics; Haplotypes; Humans; Male; Medical sciences; Middle Aged; Neurology; Pedigree; Prions - genetics; Temporal Lobe - pathology; Temporal Lobe - physiopathology; Human; Temporal lobe; Nervous system diseases; Frontal lobe; Linkage; Family study; Clinical form; Genetic determinism; Language disorder; Dysphasia; Cerebral disorder; Genetic disease; Pathology; Phenotype; Chromosome E17; Central nervous system disease; Genetics; Degenerative disease; Diagnosis; Dementia
• ISSN: 0028-3878; 1526-632X
• DOI: 10.1212/WNL.50.6.1546

The clinical and pathologic features of hereditary dysphasic disinhibition dementia (HDDD) are described to determine whether it is a variant of known dementias.
Several dementing disorders have clinical and pathologic similarities with AD, Pick's disease, and the "nonspecific" dementias. A detailed description of clinical and pathologic presentation will aid classification, but ultimately the discovery of causative gene(s) will define these disorders.
The authors performed a clinical assessment: gross and microscopic pathologic evaluation of brain tissue, genetic linkage studies, and sequence analyses.
HDDD is an autosomal-dominant frontotemporal dementia with many similarities to Pick's disease. Salient clinical features are global dementia with disproportionate dysphasia and "frontotemporal" symptoms. A linkage between HDDD and 17q21-22 was shown, with a maximum lod score of 3.68 at zero recombination.
Several dementias have been linked to the same region and have been termed frontotemporal dementia with parkinsonism linked to chromosome 17. These disorders may represent phenotypic variants arising from mutations within a common gene.