The longitudinal evaluation of familial frontotemporal dementia subjects protocol: Framework and methodology

被引：36

作者：

Boeve, Bradley ^{[1
]}

Bove, Jessica ^{[2
]}

Brannelly, Patrick ^{[3
]}

Brushaber, Danielle ^{[1
]}

Coppola, Giovanni ^{[4
]}

Dever, Rielly ^{[5
]}

Dheel, Christina ^{[1
]}

Dickerson, Bradford ^{[6
]}

Dickinson, Susan ^{[7
]}

Faber, Kelley ^{[8
]}

Fields, Julie ^{[1
]}

Fong, Jamie ^{[5
]}

Foroud, Tatiana ^{[8
]}

Forsberg, Leah ^{[1
]}

Gavrilova, Ralitza ^{[1
]}

Gearhart, Debra ^{[1
]}

Ghoshal, Nupur ^{[9
]}

Goldman, Jennifer ^{[10
]}

Graff-Radford, Jonathan ^{[1
]}

Graff-Radford, Neill ^{[11
]}

Grossman, Murray ^{[2
]}

Haley, Dana ^{[11
]}

Heuer, Hilary ^{[5
]}

Hsiung, Ging-Yuek Robin ^{[12
]}

Huey, Edward ^{[10
]}

Irwin, David ^{[2
]}

Jones, David ^{[1
]}

Jones, Lynne ^{[9
]}

Kantarci, Kejal ^{[1
]}

Karydas, Anna ^{[1
,5
]}

Knopman, David ^{[1
]}

Kornak, John ^{[5
]}

Kraft, Ruth ^{[1
]}

Kramer, Joel ^{[5
]}

Kremers, Walter ^{[1
]}

Kukull, Walter ^{[13
]}

Lapid, Maria ^{[1
]}

Lucente, Diane ^{[6
]}

Mackenzie, Ian ^{[12
]}

Manoochehri, Masood ^{[10
]}

McGinnis, Scott ^{[6
]}

Miller, Bruce ^{[5
]}

Pearlman, Rodney ^{[14
]}

Petrucelli, Len ^{[11
]}

Potter, Madeline ^{[8
]}

Rademakers, Rosa ^{[11
]}

Ramos, Eliana Marisa ^{[4
]}

Rankin, Kate ^{[5
]}

Rascovsky, Katya ^{[2
]}

Sengdy, Pheth ^{[12
]}

机构：

[1] Mayo Clin, Rochester, MN 55905 USA

[2] Univ Penn, Philadelphia, PA 19104 USA

[3] Rainwater Charitable Fdn, Tau Consortium, Ft Worth, TX USA

[4] Univ Calif Los Angeles, Los Angeles, CA USA

[5] UCSF, San Francisco, CA USA

[6] Harvard Univ, MGH, Boston, MA 02115 USA

[7] Assoc Frontotemporal Degenerat, Radnor, PA USA

[8] Indiana Univ, Natl Cell Repository Alzheimers Dis & Related Dem, Indianapolis, IN 46204 USA

[9] Washington Univ, St Louis, MO 63110 USA

[10] Columbia Univ, New York, NY USA

[11] Mayo Clin, Jacksonville, FL 32224 USA

[12] Univ British Columbia, Vancouver, BC, Canada

[13] Univ Washington, NACC, Seattle, WA 98195 USA

[14] Bluefield Project, San Francisco, CA USA

[15] USC, Lab Neuroimaging LONI, Los Angeles, CA USA

[16] Northwestern Univ, Chicago, IL 60611 USA

来源：

ALZHEIMERS & DEMENTIA | 2020年 / 16卷 / 01期

基金：

美国国家卫生研究院;

关键词：

C9orf72; Frontotemporal dementia; Genetics; GRN; MAPT; Tau; TDP-43; ALZHEIMERS-DISEASE; BRAIN ATROPHY; HEXANUCLEOTIDE REPEAT; HYPOTHETICAL MODEL; RATING-SCALE; PATTERNS; MUTATIONS; TAU; LANGUAGE; APHASIA;

D O I：

10.1016/j.jalz.2019.06.4947

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Introduction: It is important to establish the natural history of familial frontotemporal lobar degeneration (f-FTLD) and provide clinical and biomarker data for planning these studies, particularly in the asymptomatic phase. Methods: The Longitudinal Evaluation of Familial Frontotemporal Dementia Subjects protocol was designed to enroll and follow at least 300 subjects for more than at least three annual visits who are members of kindreds with a mutation in one of the three most common f-FTLD genes-microtubule-associated protein tau, progranulin, or chromosome 9 open reading frame 72. Results: We present the theoretical considerations of f-FTLD and the aims/objectives of this protocol. We also describe the design and methodology for evaluating and rating subjects, in which detailed clinical and neuropsychological assessments are performed, biofluid samples are collected, and magnetic resonance imaging scans are performed using a standard protocol. Discussion: These data and samples, which are available to interested investigators worldwide, will facilitate planning for upcoming disease-modifying therapeutic trials in f-FTLD.

引用

页码：22 / 36

页数：15

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