Literature DB >> 22773362

New approaches to genetic counseling and testing for Alzheimer's disease and frontotemporal degeneration.

Jill S Goldman1.   

Abstract

The discovery of new autosomal dominant and susceptibility genes for Alzheimer's disease (AD) and frontotemporal degeneration (FTD) is revealing important new information about the neurodegenerative process and the risk for acquiring these diseases. It is becoming increasingly clear that both the mechanisms that drive these diseases and their phenotypes overlap. New technologies will assist access to genetic testing but may increase difficulty with genetic test interpretation. Thus, the process of genetic counseling and testing for these diseases is becoming more complex. This article will review current knowledge on the genetics of AD and FTD and suggest clinical guidelines for helping families to navigate through these complexities. The implications of future discoveries will be offered.

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Year:  2012        PMID: 22773362      PMCID: PMC3437002          DOI: 10.1007/s11910-012-0296-1

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


  81 in total

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Journal:  Science       Date:  1995-08-18       Impact factor: 47.728

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Journal:  Am J Hum Genet       Date:  1995-11       Impact factor: 11.025

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Journal:  Arch Neurol       Date:  1995-11
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  8 in total

Review 1.  [Genetics of dementia].

Authors:  J Diehl-Schmid; K Oexle
Journal:  Nervenarzt       Date:  2015-07       Impact factor: 1.214

2.  APOE ε4 influences β-amyloid deposition in primary progressive aphasia and speech apraxia.

Authors:  Keith A Josephs; Joseph R Duffy; Edythe A Strand; Mary M Machulda; Matthew L Senjem; Val J Lowe; Clifford R Jack; Jennifer L Whitwell
Journal:  Alzheimers Dement       Date:  2014-06-28       Impact factor: 21.566

Review 3.  Ethical issues in neurogenetics.

Authors:  Wendy R Uhlmann; J Scott Roberts
Journal:  Handb Clin Neurol       Date:  2018

4.  Genetic screening of a large series of North American sporadic and familial frontotemporal dementia cases.

Authors:  Eliana Marisa Ramos; Deepika Reddy Dokuru; Victoria Van Berlo; Kevin Wojta; Qing Wang; Alden Y Huang; Sandeep Deverasetty; Yue Qin; Marka van Blitterswijk; Jazmyne Jackson; Brian Appleby; Yvette Bordelon; Patrick Brannelly; Danielle E Brushaber; Bradford Dickerson; Susan Dickinson; Kimiko Domoto-Reilly; Kelley Faber; Julie Fields; Jamie Fong; Tatiana Foroud; Leah K Forsberg; Ralitza Gavrilova; Nupur Ghoshal; Jill Goldman; Jonathan Graff-Radford; Neill Graff-Radford; Ian Grant; Murray Grossman; Hilary W Heuer; Ging-Yuek R Hsiung; Edward Huey; David Irwin; Kejal Kantarci; Anna Karydas; Daniel Kaufer; Diana Kerwin; David Knopman; John Kornak; Joel H Kramer; Walter Kremers; Walter Kukull; Irene Litvan; Peter Ljubenkov; Codrin Lungu; Ian Mackenzie; Mario F Mendez; Bruce L Miller; Chiadi Onyike; Alexander Pantelyat; Rodney Pearlman; Len Petrucelli; Madeline Potter; Katherine P Rankin; Katya Rascovsky; Erik D Roberson; Emily Rogalski; Leslie Shaw; Jeremy Syrjanen; Maria Carmela Tartaglia; Nadine Tatton; Joanne Taylor; Arthur Toga; John Q Trojanowski; Sandra Weintraub; Bonnie Wong; Zbigniew Wszolek; Rosa Rademakers; Brad F Boeve; Howard J Rosen; Adam L Boxer; Giovanni Coppola
Journal:  Alzheimers Dement       Date:  2020-01       Impact factor: 21.566

Review 5.  Ethics of genetic and biomarker test disclosures in neurodegenerative disease prevention trials.

Authors:  Scott Y H Kim; Jason Karlawish; Benjamin E Berkman
Journal:  Neurology       Date:  2015-03-11       Impact factor: 9.910

Review 6.  Diagnosis and management of the patient with suspected dementia in primary care.

Authors:  Stefan Holzer; James P Warner; Steve Iliffe
Journal:  Drugs Aging       Date:  2013-09       Impact factor: 3.923

7.  The Clinical Spectrum of Young Onset Dementia Points to Its Stochastic Origins.

Authors:  Peter K Panegyres
Journal:  J Alzheimers Dis Rep       Date:  2021-08-26

Review 8.  Genetic Counselling Improves the Molecular Characterisation of Dementing Disorders.

Authors:  Stefania Zampatti; Michele Ragazzo; Cristina Peconi; Serena Luciano; Stefano Gambardella; Valerio Caputo; Claudia Strafella; Raffaella Cascella; Carlo Caltagirone; Emiliano Giardina
Journal:  J Pers Med       Date:  2021-05-26
  8 in total

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