Unusually long duration and delayed penetrance in a family with FTD and mutation inMAPT(V337M)-Reference-Cited by-同舟云学术

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Unusually long duration and delayed penetrance in a family with FTD and mutation inMAPT(V337M)

Published:2016-03-16 Issue:1 Volume:174 Page:70-74
ISSN:1552-4841
Container-title:American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Domoto-Reilly Kimiko¹,Davis Marie Y.¹,Keene C. Dirk²,Bird Thomas D.¹³⁴

Affiliation:

1. Department of Neurology; University of Washington; Seattle Washington

2. Department of Pathology; University of Washington; Seattle Washington

3. Department of Medicine; University of Washington; Seattle Washington

4. VA Puget Sound Health Care System; Geriatric Research Education and Clinical Center; Seattle Washington

Funder

National Institutes of Health

VA Research Funds

Publisher

Wiley

Subject

Cellular and Molecular Neuroscience,Psychiatry and Mental health,Genetics (clinical)

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.b.32443/fullpdf

Reference18 articles.

1. Frontotemporal dementia in elderly individuals;Baborie;Arch Neurol,2012

2. Chromosome 17 and hereditary dementia: Linkage studies in three non-Alzheimer families and kindreds with late-onset FAD;Bird;Neurology,1997

3. The effects of APOE and tau gene variability on risk of frontotemporal dementia;Bernardi;Neurobiol Aging,2006

4. TMEM106B regulates progranulin levels and the penetrance of FTLD in GRN mutation carriers;Finch;Neurology,2011

5. Identification of misdiagnosed fronto-temporal dementia using APOE genotype and phenotype-genotype correlation analyses;Hernández;Curr Alzheimer Res,2014

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1. Neurite-based white matter alterations in MAPT mutation carriers: A multi-shell diffusion MRI study in the ALLFTD consortium;Neurobiology of Aging;2024-02

2. Dissecting the Clinical Heterogeneity and Genotype-Phenotype Correlations of MAPT Mutations: A Systematic Review;Frontiers in Bioscience-Landmark;2024-01-16

3. Genotype-phenotype correlation in the spectrum of frontotemporal dementia-parkinsonian syndromes and advanced diagnostic approaches;Critical Reviews in Clinical Laboratory Sciences;2022-12-12

4. Patient and Relative Experiences and Decision-making About Genetic Testing and Counseling for Familial ALS and FTD;Alzheimer Disease & Associated Disorders;2021-05-31

5. Lack of APOE Christchurch variant in five age of onset outliers with PSEN1, PSEN2 Alzheimer's disease and MAPT frontotemporal dementia;Journal of the Neurological Sciences;2020-11

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