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Mutations in the<jats:italic>PSEN1<\/jats:italic>gene are the most common genetic cause of early onset Alzheimer's disease, whereas<jats:italic>APP<\/jats:italic>and<jats:italic>PSEN2<\/jats:italic>gene mutations are less frequent. Familial frontotemporal dementia may be associated with a mutation in the<jats:italic>MAPT<\/jats:italic>or<jats:italic>GRN<\/jats:italic>gene, or with a repeat expansion in the<jats:italic>C9orf72<\/jats:italic>gene. All these genes show autosomal dominant inheritance with a high penetrance. Although Alzheimer's disease and frontotemporal dementia are clinically distinguishable entities, phenotypical overlap may occur. Rarely, dementia is caused by mutations in other autosomal dominant genes or by genetic defects with autosomal recessive, X\u2010linked dominant or mitochondrial inheritance. The inherited forms of frontotemporal dementia and Alzheimer's disease show a large phenotypic variability also within families, resulting in many remaining uncertainties for mutation carriers. Therefore, genetic counseling before performing genetic testing is essential in both symptomatic individuals and healthy at risk relatives. This review provides an overview of the genetic causes of dementia and discusses all aspects relevant for genetic counseling and testing. Furthermore, based on current knowledge, we provide algorithms for genetic testing in patients with early onset Alzheimer's disease or frontotemporal dementia. \u00a9 2012 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.b.32080","type":"journal-article","created":{"date-parts":[[2012,7,20]],"date-time":"2012-07-20T21:12:12Z","timestamp":1342818732000},"page":"628-643","source":"Crossref","is-referenced-by-count":35,"title":["Genetics of dementia: Update and guidelines for the clinician"],"prefix":"10.1002","volume":"159B","author":[{"given":"Petra E.","family":"Cohn\u2010Hokke","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mariet W.","family":"Elting","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yolande A.L.","family":"Pijnenburg","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John C.","family":"van Swieten","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2012,7,19]]},"reference":[{"key":"e_1_2_13_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1468-1331.2007.01664.x"},{"key":"e_1_2_13_3_1","unstructured":"Alzheimer Disease & Frontotemporal Dementia Mutation Database. 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