Open AccessDifferences in Motor Features of C9orf72 , MAPT , or GRN Variant Carriers With Familial Frontotemporal Lobar Degeneration
Author(s) -
Philip W. Tipton,
Angela Deutschländer,
Rodolfo Savica,
Michael G. Heckman,
Danielle Brushaber,
Bradford C. Dickerson,
Ralitza H. Gavrilova,
Daniel H. Geschwind,
Nupur Ghoshal,
Jonathan GraffRadford,
Neill R. GraffRadford,
Murray Grossman,
Ging-Yuek Robin Hsiung,
Edward D. Huey,
David J. Irwin,
David T. Jones,
David S. Knopman,
Scott McGinnis,
Rosa Rademakers,
Eliana Marisa Ramos,
Leah K. Forsberg,
Hilary W. Heuer,
Chiadi Onyike,
Carmela Tartaglia,
Kimiko DomotoReilly,
Erik D. Roberson,
Mario F. Mendez,
Irene Litvan,
Brian S. Appleby,
Ian Grant,
Daniel Kaufer,
Adam L. Boxer,
Howard J. Rosen,
Bradley F. Boeve,
Zbigniew K. Wszołek
Publication year - 2022
Publication title -
neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.91
H-Index - 364
eISSN - 1526-632X
pISSN - 0028-3878
DOI - 10.1212/wnl.0000000000200860
Subject(s) - c9orf72 , frontotemporal lobar degeneration , frontotemporal dementia , progressive supranuclear palsy , amyotrophic lateral sclerosis , atrophy , psychology , pathology , medicine , dementia , disease
Familial frontotemporal lobar degeneration (f-FTLD) is a phenotypically heterogeneous spectrum of neurodegenerative disorders most often caused by variants within chromosome 9 open reading frame 72 ( C9orf72 ), microtubule-associated protein tau ( MAPT ), or granulin ( GRN ). The phenotypic association with each of these genes is incompletely understood. We hypothesized that the frequency of specific clinical features would correspond with different genes.