Comparison of sporadic and familial behavioral variant frontotemporal dementia (FTD) in a North American cohort.

Age Factors Aged Brain / pathology C9orf72 Protein / genetics Female Frontotemporal Dementia / classification Genetic Predisposition to Disease Humans Male Middle Aged Mutation / genetics Neuropsychological Tests / statistics & numerical data North America Progranulins / genetics tau Proteins / genetics
C9orf72 GRN MAPT bvFTD clinical trials frontotemporal dementia genetics

Journal

Alzheimer's & dementia : the journal of the Alzheimer's Association
ISSN: 1552-5279
Titre abrégé: Alzheimers Dement
Pays: United States
ID NLM: 101231978

Informations de publication

Date de publication:
01 2020
Historique:
entrez: 9 1 2020
pubmed: 9 1 2020
medline: 31 10 2020
Statut: ppublish

Résumé

Behavioral variant frontotemporal dementia (bvFTD) may present sporadically or due to an autosomal dominant mutation. Characterization of both forms will improve understanding of the generalizability of assessments and treatments. A total of 135 sporadic (s-bvFTD; mean age 63.3 years; 34% female) and 99 familial (f-bvFTD; mean age 59.9; 48% female) bvFTD participants were identified. f-bvFTD cases included 43 with known or presumed chromosome 9 open reading frame 72 (C9orf72) gene expansions, 28 with known or presumed microtubule-associated protein tau (MAPT) mutations, 14 with known progranulin (GRN) mutations, and 14 with a strong family history of FTD but no identified mutation. Participants with f-bvFTD were younger and had earlier age at onset. s-bvFTD had higher total Neuropsychiatric Inventory Questionnaire (NPI-Q) scores due to more frequent endorsement of depression and irritability. f-bvFTD and s-bvFTD cases are clinically similar, suggesting the generalizability of novel biomarkers, therapies, and clinical tools developed in either form to the other.

Identifiants

DOI: 10.1002/alz.12046 PMID: 31914226 PMC: PMC7192555
pubmed: 31914226
doi: 10.1002/alz.12046
pmc: PMC7192555
mid: NIHMS1063162
doi:

Substances chimiques

C9orf72 Protein 0
C9orf72 protein, human 0
GRN protein, human 0
MAPT protein, human 0
Progranulins 0
tau Proteins 0

Types de publication

Comparative Study Journal Article Research Support, N.I.H., Extramural

Langues

eng

Sous-ensembles de citation

IM

Pagination

60-70

Subventions

Organisme : NIA NIH HHS
ID : P30 AG013854
Pays : United States
Organisme : NIA NIH HHS
ID : K24 AG045333
Pays : United States
Organisme : NIA NIH HHS
ID : U24 AG021886
Pays : United States
Organisme : NIA NIH HHS
ID : U19 AG063911
Pays : United States
Organisme : NIA NIH HHS
ID : T32 AG023481
Pays : United States
Organisme : NIA NIH HHS
ID : P01 AG019724
Pays : United States
Organisme : NIH HHS
ID : U01 AG045390
Pays : United States
Organisme : NIH HHS
ID : U54 NS092089
Pays : United States
Organisme : NIA NIH HHS
ID : R01 AG062268
Pays : United States
Organisme : NIA NIH HHS
ID : U01 AG045390
Pays : United States
Organisme : NINDS NIH HHS
ID : U54 NS092089
Pays : United States
Organisme : NIA NIH HHS
ID : P30 AG062421
Pays : United States
Organisme : NIA NIH HHS
ID : R01 AG038791
Pays : United States
Organisme : NIA NIH HHS
ID : P50 AG008702
Pays : United States
Organisme : NIA NIH HHS
ID : P01 AG066597
Pays : United States
Organisme : NIH HHS
ID : U01 AG016976
Pays : United States
Organisme : NIMH NIH HHS
ID : R01 MH120794
Pays : United States
Organisme : NIH HHS
ID : U24 AG021886
Pays : United States

Informations de copyright

© 2020 the Alzheimer's Association.

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Auteurs

Hilary W Heuer (HW)

University of California, San Francisco, San Francisco, California.

P Wang (P)

University of California, San Francisco, San Francisco, California.

K Rascovsky (K)

University of Pennsylvania, Philadelphia, Pennsylvania.

A Wolf (A)

University of California, San Francisco, San Francisco, California.

B Appleby (B)

Case Western Reserve University, Cleveland, Ohio.

J Bove (J)

University of Pennsylvania, Philadelphia, Pennsylvania.

Y Bordelon (Y)

University of California, Los Angeles, Los Angeles, California.

P Brannelly (P)

Tau Consortium, Rainwater Charitable Foundation, Fort Worth, Texas.

D E Brushaber (DE)

Mayo Clinic, Rochester, Minnesota.

C Caso (C)

U Washington, Seattle, Washington.

G Coppola (G)

University of California, Los Angeles, Los Angeles, California.

B Dickerson (B)

Harvard University/MGH, Boston, Massachusetts.

S Dickinson (S)

Association for Frontotemporal Degeneration, Radnor, Pennsylvania.

K Domoto-Reilly (K)

U Washington, Seattle, Washington.

K Faber (K)

National Centralized Repository for Alzheimer's Disease and Related Disorders (NCRAD), Indiana University, Indianapolis, Indiana.

J Ferrall (J)

University of North Carolina, Chapel Hill, North Carolina.

J Fields (J)

Mayo Clinic, Rochester, Minnesota.

A Fishman (A)

Johns Hopkins University, Baltimore, Maryland.

J Fong (J)

University of California, San Francisco, San Francisco, California.

T Foroud (T)

National Centralized Repository for Alzheimer's Disease and Related Disorders (NCRAD), Indiana University, Indianapolis, Indiana.

L K Forsberg (LK)

Mayo Clinic, Rochester, Minnesota.

D Gearhart (D)

Mayo Clinic, Rochester, Minnesota.

B Ghazanfari (B)

University of Toronto, Toronto, Ontario, Canada.

N Ghoshal (N)

Washington University, St. Louis, Missouri.

J Goldman (J)

Columbia University, New York, New York.

J Graff-Radford (J)

Mayo Clinic, Rochester, Minnesota.

N Graff-Radford (N)

Mayo Clinic, Jacksonville, Florida.

I Grant (I)

Northwestern University, Chicago, Illinois.

M Grossman (M)

University of Pennsylvania, Philadelphia, Pennsylvania.

D Haley (D)

Mayo Clinic, Jacksonville, Florida.

G-Y Hsiung (GY)

University of British Columbia, Vancouver, British Columbia, Canada.

E Huey (E)

Columbia University, New York, New York.

D Irwin (D)

University of Pennsylvania, Philadelphia, Pennsylvania.

D Jones (D)

Mayo Clinic, Rochester, Minnesota.

K Kantarci (K)

Mayo Clinic, Rochester, Minnesota.

A Karydas (A)

University of California, San Francisco, San Francisco, California.

D Kaufer (D)

University of North Carolina, Chapel Hill, North Carolina.

D Kerwin (D)

The University of Texas, Southwestern Medical Center at Dallas, Dallas, Texas.

D Knopman (D)

Mayo Clinic, Rochester, Minnesota.

J Kornak (J)

University of California, San Francisco, San Francisco, California.

J H Kramer (JH)

University of California, San Francisco, San Francisco, California.

R Kraft (R)

Mayo Clinic, Rochester, Minnesota.

W K Kremers (WK)

Mayo Clinic, Rochester, Minnesota.

W Kukull (W)

National Alzheimer Coordinating Center (NACC), University of Washington, Seattle, Washington.

I Litvan (I)

University of California, San Diego, San Diego, California.

P Ljubenkov (P)

University of California, San Francisco, San Francisco, California.

I R Mackenzie (IR)

University of British Columbia, Vancouver, British Columbia, Canada.

M Maldonado (M)

University of California, Los Angeles, Los Angeles, California.

M Manoochehri (M)

Columbia University, New York, New York.

S McGinnis (S)

Harvard University/MGH, Boston, Massachusetts.

E McKinley (E)

University of Alabama at Birmingham, Birmingham, Alabama.

M F Mendez (MF)

University of California, Los Angeles, Los Angeles, California.

B L Miller (BL)

University of California, San Francisco, San Francisco, California.

C Onyike (C)

Johns Hopkins University, Baltimore, Maryland.

A Pantelyat (A)

Johns Hopkins University, Baltimore, Maryland.

R Pearlman (R)

Bluefield Project, San Francisco, California.

L Petrucelli (L)

Mayo Clinic, Jacksonville, Florida.

M Potter (M)

National Centralized Repository for Alzheimer's Disease and Related Disorders (NCRAD), Indiana University, Indianapolis, Indiana.

R Rademakers (R)

Mayo Clinic, Jacksonville, Florida.

E M Ramos (EM)

University of California, Los Angeles, Los Angeles, California.

K P Rankin (KP)

University of California, San Francisco, San Francisco, California.

E D Roberson (ED)

University of Alabama at Birmingham, Birmingham, Alabama.

E Rogalski (E)

Northwestern University, Chicago, Illinois.

P Sengdy (P)

University of British Columbia, Vancouver, British Columbia, Canada.

L Shaw (L)

University of Pennsylvania, Philadelphia, Pennsylvania.

J Syrjanen (J)

Mayo Clinic, Rochester, Minnesota.

M C Tartaglia (MC)

University of Toronto, Toronto, Ontario, Canada.

N Tatton (N)

Association for Frontotemporal Degeneration, Radnor, Pennsylvania.

J Taylor (J)

University of California, San Francisco, San Francisco, California.

A Toga (A)

Laboratory of Neuroimaging (LONI), USC, Los Angeles, California.

J Trojanowski (J)

Case Western Reserve University, Cleveland, Ohio.

S Weintraub (S)

Northwestern University, Chicago, Illinois.

B Wong (B)

Harvard University/MGH, Boston, Massachusetts.

Z Wszolek (Z)

Mayo Clinic, Jacksonville, Florida.

B F Boeve (BF)

Mayo Clinic, Rochester, Minnesota.

H J Rosen (HJ)

University of California, San Francisco, San Francisco, California.

A L Boxer (AL)

University of California, San Francisco, San Francisco, California.

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Classifications MeSH

questionsmedicales.fr › Environnement et santé publique › Santé publique › Facteurs épidémiologiques › Facteurs âges › Comparison of sporadic and familial behavioral...
questionsmedicales.fr › Personnes › Tranches d'âge › Adulte › Sujet âgé › Comparison of sporadic and familial behavioral...
questionsmedicales.fr › Système nerveux › Système nerveux central › Encéphale › Comparison of sporadic and familial behavioral...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines et peptides de signalisation intracellulaire › Régulateurs des protéines G › Facteurs d'échange de nucléotides guanyliques › Protéine C9orf72 › Comparison of sporadic and familial behavioral...
questionsmedicales.fr › Troubles mentaux › Troubles neurocognitifs › Démence › Dégénérescence lobaire frontotemporale › Démence frontotemporale › Comparison of sporadic and familial behavioral...
questionsmedicales.fr › Phénomènes génétiques › Génotype › Prédisposition génétique à une maladie › Comparison of sporadic and familial behavioral...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Comparison of sporadic and familial behavioral...
questionsmedicales.fr › Personnes › Tranches d'âge › Adulte › Adulte d'âge moyen › Comparison of sporadic and familial behavioral...
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Comparison of sporadic and familial behavioral...
questionsmedicales.fr › Disciplines et activités comportementales › Tests psychologiques › Tests neuropsychologiques › Comparison of sporadic and familial behavioral...
questionsmedicales.fr › Régions géographiques › Amériques › Amérique du Nord › Comparison of sporadic and familial behavioral...
questionsmedicales.fr › Facteurs biologiques › Protéines et peptides de signalisation intercellulaire › Progranulines › Comparison of sporadic and familial behavioral...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines de tissu nerveux › Protéines associées aux microtubules › Protéines tau › Comparison of sporadic and familial behavioral...