title: Diversity of Cognitive Phenotypes Associated with C9ORF72 Hexanucleotide Expansion.
abstract: For diagnostic purposes, we screened for the C9ORF72 mutation in a) 162 FTLD cases, and b) 145 cases with other diagnoses but with some frontotemporal features or manifestations previously reported in C9 carriers. Ten cases (onset 50 to 75 years) harbored the expansion: seven had FTLD syndromes (4.3% of total, 11% of familial cases), and three (2%) had a different diagnosis. All positive cases had family history of dementia, psychiatric disease, or ALS, but only 20% of families with mixed FTLD/ALS phenotypes carried the expansion. Language impairment was the most common symptom, followed by behavioral changes, memory deficits, and parkinsonism. C9ORF72 mutation has a low frequency in our dementia series and very diverse clinical manifestations.
authors.affiliation: Department of Neurology, Fundación Jiménez Díaz, Madrid, Spain.
authors.forename: Estrella
authors.initials: E
authors.lastname: Gómez-Tortosa
authors.affiliation: Department of Neurology, Hospital Infanta Elena, Madrid, Spain.
authors.forename: Cristina
authors.initials: C
authors.lastname: Prieto-Jurczynska
authors.affiliation: Department of Neurology, Hospital Severo Ochoa, Madrid, Spain.
authors.forename: Soledad
authors.initials: S
authors.lastname: Serrano
authors.affiliation: Department of Neurology, Hospital Virgen del Rocío, Seville, Spain.
authors.forename: Emilio
authors.initials: E
authors.lastname: Franco-Macías
authors.affiliation: Department of Neurology, Fundación Jiménez Díaz, Madrid, Spain.
authors.forename: Laura
authors.initials: L
authors.lastname: Olivié
authors.affiliation: Department of Genetics, Fundación Jiménez Díaz, Madrid, Spain.
authors.forename: Jesús
authors.initials: J
authors.lastname: Gallego
authors.affiliation: Instituto de Investigación Sanitaria Fundación Jiménez Díaz (IIS-FJD) and CIBERER, Madrid, Spain.
authors.forename: Rosa
authors.initials: R
authors.lastname: Guerrero-López
authors.affiliation: Department of Genetics, Fundación Jiménez Díaz, Madrid, Spain.
authors.forename: María José
authors.initials: MJ
authors.lastname: Trujillo-Tiebas
authors.affiliation: Department of Genetics, Fundación Jiménez Díaz, Madrid, Spain.
authors.forename: Carmen
authors.initials: C
authors.lastname: Ayuso
authors.affiliation: Department of Neurology, Fundación Jiménez Díaz, Madrid, Spain.
authors.forename: Pedro
authors.initials: P
authors.lastname: García Ruiz
authors.affiliation: Secugen S.L., Madrid, Spain.
authors.forename: Julián
authors.initials: J
authors.lastname: Pérez-Pérez
authors.affiliation: Department of Neurology, Fundación Jiménez Díaz, Madrid, Spain.
authors.forename: María José
authors.initials: MJ
authors.lastname: Sainz
mesh_terms: D000328:Adult; D017668:Age of Onset; D053327:Apolipoprotein E4 / Q000235:genetics; D000073885:C9orf72 Protein; D003071:Cognition; D042622:DNA Repeat Expansion; D005190:Family; D005260:Female; D005500:Follow-Up Studies; D057174:Frontotemporal Lobar Degeneration / Q000453:epidemiology / Q000235:genetics* / Q000523:psychology*; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D060005:Genotyping Techniques; D006801:Humans; D008297:Male; D008875:Middle Aged; D015995:Prevalence; D011506:Proteins / Q000235:genetics*; D013030:Spain / Q000453:epidemiology
chemical_list: D053327:Apolipoprotein E4; D000073885:C9orf72 Protein; C568651:C9orf72 protein, human; D011506:Proteins
keywords: C9ORF72 gene; frontotemporal dementia; hexanucleotide expansion