Format

Send to

Choose Destination
Alzheimers Dement. 2020 Jan;16(1):22-36. doi: 10.1016/j.jalz.2019.06.4947. Epub 2020 Jan 6.

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

Author information

1
Mayo Clinic, Rochester, MN, USA.
2
University of Pennsylvania, Philadelphia, PA, USA.
3
Tau Consortium, Rainwater Charitable Foundation, Fort Worth, TX, USA.
4
UCLA, Los Angeles, CA, USA.
5
UCSF, San Francisco, CA, USA.
6
Harvard University/MGH, Boston, MA, USA.
7
Association for Frontotemporal Degeneration, Radnor, PA, USA.
8
National Cell Repository for Alzheimer's Disease and Related Dementias (NCRAD), Indiana University, Indianapolis, IN, USA.
9
Washington University, St. Louis, MO, USA.
10
Columbia University, New York, NY, USA.
11
Mayo Clinic, Jacksonville, FL, USA.
12
University of British Columbia, Vancouver, British Columbia, Canada.
13
National Alzheimer Coordinating Center (NACC), University of Washington, Seattle, WA, USA.
14
Bluefield Project, San Francisco, CA, USA.
15
Laboratory of Neuroimaging (LONI), USC, Los Angeles, CA, USA.
16
Northwestern University, Chicago, IL, USA.

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.

KEYWORDS:

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

PMID:
31636026
PMCID:
PMC6949411
[Available on 2021-01-06]
DOI:
10.1016/j.jalz.2019.06.4947
Free full text

Supplemental Content

Full text links

Icon for Elsevier Science
Loading ...
Support Center