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

LEFFTDS Consortium

Research output: Contribution to journalArticle

1 Citation (Scopus)

Abstract

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.

Original languageEnglish (US)
JournalAlzheimer's and Dementia
DOIs
StateAccepted/In press - Jan 1 2019

Fingerprint

Frontotemporal Lobar Degeneration
Frontotemporal Dementia
Dementia
tau Proteins
Chromosomes, Human, Pair 9
Open Reading Frames
Biomarkers
Research Personnel
Magnetic Resonance Imaging
Mutation

Keywords

  • C9orf72
  • Frontotemporal dementia
  • Genetics
  • GRN
  • MAPT
  • Tau
  • TDP-43

ASJC Scopus subject areas

  • Epidemiology
  • Health Policy
  • Developmental Neuroscience
  • Clinical Neurology
  • Geriatrics and Gerontology
  • Psychiatry and Mental health
  • Cellular and Molecular Neuroscience

Cite this

The longitudinal evaluation of familial frontotemporal dementia subjects protocol : Framework and methodology. / LEFFTDS Consortium.

In: Alzheimer's and Dementia, 01.01.2019.

Research output: Contribution to journalArticle

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abstract = "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.",
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AU - Boeve, Bradley

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AU - Brannelly, Patrick

AU - Brushaber, Danielle

AU - Coppola, Giovanni

AU - Dever, Rielly

AU - Dheel, Christina

AU - Dickerson, Bradford

AU - Dickinson, Susan

AU - Faber, Kelley

AU - Fields, Julie

AU - Fong, Jamie

AU - Foroud, Tatiana

AU - Forsberg, Leah

AU - Gavrilova, Ralitza

AU - Gearhart, Debra

AU - Ghoshal, Nupur

AU - Goldman, Jennifer

AU - Graff-Radford, Jonathan

AU - Graff-Radford, Neill

AU - Grossman, Murray

AU - Haley, Dana

AU - Heuer, Hilary

AU - Hsiung, Ging Yuek Robin

AU - Huey, Edward

AU - Irwin, David

AU - Jones, David

AU - Jones, Lynne

AU - Kantarci, Kejal

AU - Karydas, Anna

AU - Knopman, David

AU - Kornak, John

AU - Kraft, Ruth

AU - Kramer, Joel

AU - Kremers, Walter

AU - Kukull, Walter

AU - Lapid, Maria

AU - Lucente, Diane

AU - Mackenzie, Ian

AU - Manoochehri, Masood

AU - McGinnis, Scott

AU - Miller, Bruce

AU - Pearlman, Rodney

AU - Petrucelli, Len

AU - Potter, Madeline

AU - Rademakers, Rosa

AU - Ramos, Elena

AU - Rankin, Kate

AU - Rascovsky, Katya

AU - Wszolek, Zbigniew

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N2 - 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.

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KW - Genetics

KW - GRN

KW - MAPT

KW - Tau

KW - TDP-43

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