Genetics of dementia.
Many neurodegenerative diseases are exceedingly complex disorders (Fig. 6). In the past decade, we have made tremendous advances in our understanding [figure: see text] of the genetic basis of these disorders. One common characteristic of these disorders is the existence of rare families in which a given disease is inherited as a Mendelian trait. In this article, we have reviewed the genetics of several common neurodegenerative disorders that are associated with cognitive disturbances and for which causative genes have been identified. Further genetic analysis should clarify the roles of known genes in the pathogenesis of common sporadic forms of these various diseases. Investigation of the normal and aberrant functions of these genes should provide insight into the underlying mechanisms of these disorders. Such research should facilitate new strategies for therapeutic interventions. Although molecular genetics has helped to clarify the etiology of these disorders, clinicians have played a critical role in the careful identification and classification of many families who were involved in the eventual mapping and cloning of causative mutations. The role of the clinician should not be underestimated. Future clinical and molecular genetics findings hold many clinical implications. It is likely that new diagnostic and therapeutic strategies for dementing disorders are just on the horizon.
Tsuang
Debby W
DW
Departments of Psychiatry and Behavioral Sciences and Epidemiology, University of Washington, Seattle, WA, USA. dwt1@u.washington.edu
Bird
Thomas D
TD
D000328:Adult; D000368:Aged; D016564:Amyloid beta-Protein Precursor / Q000235:genetics*; D000818:Animals; D001057:Apolipoproteins E / Q000235:genetics; D003704:Dementia / Q000235:genetics* / Q000473:pathology; D005260:Female; D008040:Genetic Linkage / Q000235:genetics; D006801:Humans; D006816:Huntington Disease / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D016631:Lewy Bodies / Q000473:pathology; D008297:Male; D008875:Middle Aged; D020774:Pick Disease of the Brain / Q000453:epidemiology / Q000235:genetics / Q000473:pathology; D017096:Prion Diseases / Q000235:genetics; D012306:Risk
D016564:Amyloid beta-Protein Precursor; D001057:Apolipoproteins E