Literature DB >> 26108876

[Genetics of dementia].

J Diehl-Schmid1, K Oexle.   

Abstract

Most psychiatric diseases in adulthood have a multifactorial origin. This also applies for most cases of dementia; however, rare familial forms of Alzheimer's disease and frontotemporal lobar degeneration follow an autosomal dominant (Mendelian) inheritance pattern. Alzheimer's disease that is caused by mutations in the genes for presenilin 1, presenilin 2 and amyloid precursor protein has an onset under the age of 65 years in most cases. Approximately 10 % of frontotemporal lobar degeneration cases display an autosomal dominant inheritance pattern. According to the current S3 guidelines on dementia of the German Association for Psychiatry, Psychotherapy and Psychosomatics and the German Society of Neurology, genetic counseling should be offered if an autosomal dominant disease pattern is suspected. Genetic counseling must conform to the German Genetic Diagnostics Act (Gendiagnostikgesetz).

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Year:  2015        PMID: 26108876     DOI: 10.1007/s00115-015-4276-y

Source DB:  PubMed          Journal:  Nervenarzt        ISSN: 0028-2804            Impact factor:   1.214


  29 in total

1.  Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS.

Authors:  Mariely DeJesus-Hernandez; Ian R Mackenzie; Bradley F Boeve; Adam L Boxer; Matt Baker; Nicola J Rutherford; Alexandra M Nicholson; NiCole A Finch; Heather Flynn; Jennifer Adamson; Naomi Kouri; Aleksandra Wojtas; Pheth Sengdy; Ging-Yuek R Hsiung; Anna Karydas; William W Seeley; Keith A Josephs; Giovanni Coppola; Daniel H Geschwind; Zbigniew K Wszolek; Howard Feldman; David S Knopman; Ronald C Petersen; Bruce L Miller; Dennis W Dickson; Kevin B Boylan; Neill R Graff-Radford; Rosa Rademakers
Journal:  Neuron       Date:  2011-09-21       Impact factor: 17.173

2.  Frontotemporal lobar degeneration: demographic characteristics of 353 patients.

Authors:  Julene K Johnson; Janine Diehl; Mario F Mendez; John Neuhaus; Jill S Shapira; Mark Forman; Dennis J Chute; Erik D Roberson; Catherine Pace-Savitsky; Manuela Neumann; Tiffany W Chow; Howard J Rosen; Hans Forstl; Alexander Kurz; Bruce L Miller
Journal:  Arch Neurol       Date:  2005-06

Review 3.  Symptom onset in autosomal dominant Alzheimer disease: a systematic review and meta-analysis.

Authors:  Davis C Ryman; Natalia Acosta-Baena; Paul S Aisen; Thomas Bird; Adrian Danek; Nick C Fox; Alison Goate; Peter Frommelt; Bernardino Ghetti; Jessica B S Langbaum; Francisco Lopera; Ralph Martins; Colin L Masters; Richard P Mayeux; Eric McDade; Sonia Moreno; Eric M Reiman; John M Ringman; Steve Salloway; Peter R Schofield; Reisa Sperling; Pierre N Tariot; Chengjie Xiong; John C Morris; Randall J Bateman
Journal:  Neurology       Date:  2014-06-13       Impact factor: 9.910

4.  ApoE-4 and age at onset of Alzheimer's disease: the NIMH genetics initiative.

Authors:  D Blacker; J L Haines; L Rodes; H Terwedow; R C Go; L E Harrell; R T Perry; S S Bassett; G Chase; D Meyers; M S Albert; R Tanzi
Journal:  Neurology       Date:  1997-01       Impact factor: 9.910

5.  Molecular diagnosis of autosomal dominant early onset Alzheimer's disease: an update.

Authors:  G Raux; L Guyant-Maréchal; C Martin; J Bou; C Penet; A Brice; D Hannequin; T Frebourg; D Campion
Journal:  J Med Genet       Date:  2005-07-20       Impact factor: 6.318

Review 6.  Cerebrovascular effects of apolipoprotein E: implications for Alzheimer disease.

Authors:  Berislav V Zlokovic
Journal:  JAMA Neurol       Date:  2013-04       Impact factor: 18.302

Review 7.  Genetics of dementia.

Authors:  Clement T Loy; Peter R Schofield; Anne M Turner; John B J Kwok
Journal:  Lancet       Date:  2013-08-06       Impact factor: 79.321

8.  Risk estimates of dementia by apolipoprotein E genotypes from a population-based incidence study: the Rotterdam Study.

Authors:  A J Slooter; M Cruts; S Kalmijn; A Hofman; M M Breteler; C Van Broeckhoven; C M van Duijn
Journal:  Arch Neurol       Date:  1998-07

Review 9.  The genetics and neuropathology of frontotemporal lobar degeneration.

Authors:  Anne Sieben; Tim Van Langenhove; Sebastiaan Engelborghs; Jean-Jacques Martin; Paul Boon; Patrick Cras; Peter-Paul De Deyn; Patrick Santens; Christine Van Broeckhoven; Marc Cruts
Journal:  Acta Neuropathol       Date:  2012-08-14       Impact factor: 17.088

Review 10.  Genome-wide association studies in Alzheimer's disease: a review.

Authors:  Giuseppe Tosto; Christiane Reitz
Journal:  Curr Neurol Neurosci Rep       Date:  2013-10       Impact factor: 5.081

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