Literature DB >> 15324600

Genetics and genetic counseling: recommendations for Alzheimer's disease, frontotemporal dementia, and Creutzfeldt-Jakob disease.

Jennifer Williamson1, Susan LaRusse.   

Abstract

In this paper we discuss the clinical genetics of three neurodegenerative diseases (Alzheimer's disease, frontotemporal dementia, and Creutzfeldt-Jakob disease), the current application of genetic testing for these diseases, and the role of genetic counseling in familial dementia. We review the literature addressing the clinical application of these genetic findings, including susceptibility testing and predictive testing. In addition, we share our own experience working with families with familial neurodegenerative disease, the genetic counseling process, and the major issues that need attention in the genetic counseling setting.

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Year:  2004        PMID: 15324600     DOI: 10.1007/s11910-004-0081-x

Source DB:  PubMed          Journal:  Curr Neurol Neurosci Rep        ISSN: 1528-4042            Impact factor:   5.081


  44 in total

1.  BRCA1 Testing: Genetic Counseling Protocol Development and Counseling Issues.

Authors:  B J Baty; V L Venne; J McDonald; R T Croyle; C Halls; J E Nash; J R Botkin
Journal:  J Genet Couns       Date:  1997-06       Impact factor: 2.537

2.  Utility of the apolipoprotein E genotype in the diagnosis of Alzheimer's disease. Alzheimer's Disease Centers Consortium on Apolipoprotein E and Alzheimer's Disease.

Authors:  R Mayeux; A M Saunders; S Shea; S Mirra; D Evans; A D Roses; B T Hyman; B Crain; M X Tang; C H Phelps
Journal:  N Engl J Med       Date:  1998-02-19       Impact factor: 91.245

3.  Presymptomatic Genetic Testing with an APP Mutation in Early-Onset Alzheimer Disease: A Descriptive Study of Sibship Dynamics.

Authors:  K A Quaid; J R Murrell; A M Hake; M R Farlow; B Ghetti
Journal:  J Genet Couns       Date:  2000-08       Impact factor: 2.537

4.  The apolipoprotein epsilon 4 allele in patients with Alzheimer's disease.

Authors:  R Mayeux; Y Stern; R Ottman; T K Tatemichi; M X Tang; G Maestre; C Ngai; B Tycko; H Ginsberg
Journal:  Ann Neurol       Date:  1993-11       Impact factor: 10.422

Review 5.  Causative and susceptibility genes for Alzheimer's disease: a review.

Authors:  A Rocchi; S Pellegrini; G Siciliano; L Murri
Journal:  Brain Res Bull       Date:  2003-06-30       Impact factor: 4.077

Review 6.  Fatal familial insomnia and familial Creutzfeldt-Jakob disease: clinical, pathological and molecular features.

Authors:  P Gambetti; P Parchi; R B Petersen; S G Chen; E Lugaresi
Journal:  Brain Pathol       Date:  1995-01       Impact factor: 6.508

7.  Familial non-specific dementia maps to chromosome 3.

Authors:  J Brown; A Ashworth; S Gydesen; A Sorensen; M Rossor; J Hardy; J Collinge
Journal:  Hum Mol Genet       Date:  1995-09       Impact factor: 6.150

8.  Reasons for seeking genetic susceptibility testing among first-degree relatives of people with Alzheimer disease.

Authors:  J Scott Roberts; Susan A LaRusse; Heather Katzen; Peter J Whitehouse; Melissa Barber; Stephen G Post; Norman Relkin; Kimberly Quaid; Robert H Pietrzak; L Adrienne Cupples; Lindsay A Farrer; Tamsen Brown; Robert C Green
Journal:  Alzheimer Dis Assoc Disord       Date:  2003 Apr-Jun       Impact factor: 2.703

9.  Effects of age, sex, and ethnicity on the association between apolipoprotein E genotype and Alzheimer disease. A meta-analysis. APOE and Alzheimer Disease Meta Analysis Consortium.

Authors:  L A Farrer; L A Cupples; J L Haines; B Hyman; W A Kukull; R Mayeux; R H Myers; M A Pericak-Vance; N Risch; C M van Duijn
Journal:  JAMA       Date:  1997 Oct 22-29       Impact factor: 56.272

10.  Phenotypic heterogeneity in familial Alzheimer's disease: a study of 24 kindreds.

Authors:  T D Bird; S M Sumi; E J Nemens; D Nochlin; G Schellenberg; T H Lampe; A Sadovnick; H Chui; G W Miner; J Tinklenberg
Journal:  Ann Neurol       Date:  1989-01       Impact factor: 11.274

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  6 in total

Review 1.  Genetic aspects of Alzheimer disease.

Authors:  Jennifer Williamson; Jill Goldman; Karen S Marder
Journal:  Neurologist       Date:  2009-03       Impact factor: 1.398

2.  The impact of the availability of prevention studies on the desire to undergo predictive testing in persons at risk for autosomal dominant Alzheimer's disease.

Authors:  Megan Hooper; Joshua D Grill; Yaneth Rodriguez-Agudelo; Luis D Medina; Michelle Fox; Ana Isabel Alvarez-Retuerto; David Wharton; Jenny Brook; John M Ringman
Journal:  Contemp Clin Trials       Date:  2013-07-19       Impact factor: 2.226

Review 3.  A review of quality of life after predictive testing for and earlier identification of neurodegenerative diseases.

Authors:  Jane S Paulsen; Martha Nance; Ji-In Kim; Noelle E Carlozzi; Peter K Panegyres; Cheryl Erwin; Anita Goh; Elizabeth McCusker; Janet K Williams
Journal:  Prog Neurobiol       Date:  2013-09-11       Impact factor: 11.685

4.  Predictive testing for inherited prion disease: report of 22 years experience.

Authors:  Jane Owen; Jon Beck; Tracy Campbell; Gary Adamson; Michele Gorham; Andrew Thompson; Sarah Smithson; Elizabeth Rosser; Peter Rudge; John Collinge; Simon Mead
Journal:  Eur J Hum Genet       Date:  2014-04-09       Impact factor: 4.246

Review 5.  Genetic counseling for FTD/ALS caused by the C9ORF72 hexanucleotide expansion.

Authors:  Jamie C Fong; Anna M Karydas; Jill S Goldman
Journal:  Alzheimers Res Ther       Date:  2012-07-19       Impact factor: 6.982

6.  Genetic counseling and testing for Alzheimer disease: joint practice guidelines of the American College of Medical Genetics and the National Society of Genetic Counselors.

Authors:  Jill S Goldman; Susan E Hahn; Jennifer Williamson Catania; Susan LaRusse-Eckert; Melissa Barber Butson; Malia Rumbaugh; Michelle N Strecker; J Scott Roberts; Wylie Burke; Richard Mayeux; Thomas Bird
Journal:  Genet Med       Date:  2011-06       Impact factor: 8.822

  6 in total

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