Frontotemporal dementia: genetics and genetic counseling dilemmas

The Neurologist
Jill S GoldmanM Grossman

Abstract

Frontotemporal dementia (FTD) is a neurodegenerative disease with early symptoms of personality change and/or language disorder. Approximately 40% of individuals with FTD have a family history of dementia; however, in our experience, less than 10% have clear autosomal dominant inheritance. Mutations in the microtubule-associated protein tau (MAPT) gene have been reported in up to 50% of hereditary cases, but are unusual except in families with more than 3 individuals with FTD. The genetics of FTD is complicated by clinical heterogeneity, variable expression, phenocopies, misdiagnoses, and lost family histories. The objective of this paper is to enable physicians to recognize hereditary patterns and genetic concerns of FTD families and to understand genetic counseling strategies. The complexity of FTD genetics and genetic counseling are illustrated using 4 case histories. Case 1 demonstrates the difficulty obtaining a reliable FTD family history. Case 2 illustrates how psychiatric phenocopies can make family linkage studies difficult. The lack of genotype and phenotype correlation and issues of predictive genetic testing within FTD families are the subject of case 3, and case 4 shows how normal aging language difficulties and co...Continue Reading

References

Jun 20, 1998·Neurology·M StevensJ C van Swieten
Oct 28, 1998·Proceedings of the National Academy of Sciences of the United States of America·L N ClarkK C Wilhelmsen
Oct 8, 1999·Annals of Neurology·J C van SwietenP Heutink
Oct 26, 1999·Neurology·J J HigginsJ M Loveless
Apr 18, 2000·Human Molecular Genetics·P Heutink
Oct 4, 2000·JAMA : the Journal of the American Medical Association·B A HoslerR H Brown
Feb 13, 2001·Neurobiology of Aging·L A ReedM Hutton
Feb 13, 2001·Neurobiology of Aging·K C WilhelmsenD Geschwind
Apr 4, 2001·European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies·C A McRaeZ K Wszolek
Aug 25, 2001·Annual Review of Neuroscience·V M LeeJ Q Trojanowski
Nov 16, 2001·Archives of Neurology·G M McKhannUNKNOWN Work Group on Frontotemporal Dementia and Pick's Disease
Nov 16, 2001·Archives of Neurology·H R MorrisM N Rossor
Feb 2, 2002·The British Journal of Psychiatry : the Journal of Mental Science·Julie S SnowdenDavid M A Mann
May 28, 2002·Journal of the International Neuropsychological Society : JINS·Murray Grossman
Jun 12, 2002·Archives of Neurology·Patrice VerpillatAlexis Brice
Jun 12, 2002·Neurology·E RatnavalliJ R Hodges
Aug 2, 2002·Current Opinion in Neurology·Sonia M Rosso, John C van Swieten
Nov 27, 2002·Neurology·S GydesenS A Sorensen
Jun 14, 2003·The Neurologist·Tiffany W ChowJeffrey L Cummings

❮ Previous
Next ❯

Citations

Jun 26, 2015·Der Nervenarzt·J Diehl-Schmid, K Oexle
Aug 10, 2016·Journal of Geriatric Psychiatry and Neurology·Tor Atle RosnessZeina Chemali
Jun 7, 2017·Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration·Ashley CrookDominic B Rowe
Apr 19, 2008·American Journal of Alzheimer's Disease and Other Dementias·Lauren Massimo, Murray Grossman
Jan 2, 2008·American Journal of Alzheimer's Disease and Other Dementias·Bradley J HallamHoward H Feldman
Jan 26, 2012·The International Journal of Neuropsychopharmacology·Steven K Hoge, Paul S Appelbaum
Nov 23, 2017·Neurodegenerative Disease Management·Anne Hogden, Ashley Crook
Aug 26, 2009·Der Nervenarzt·J Diehl-SchmidA Danek
Feb 16, 2010·Nature Genetics·Vivianna M Van DeerlinVirginia M-Y Lee
Jan 2, 2008·American Journal of Alzheimer's Disease and Other Dementias·Jill S GoldmanMike Hutton
May 27, 2011·Journal of Molecular Neuroscience : MN·Kimberly A Quaid
Feb 28, 2008·International Journal of Geriatric Psychiatry·Tor Atle RosnessKnut Engedal
May 25, 2010·Journal of Communication Disorders·Jamie ReillyJean Neils-Strunjas

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.