Year: 2019
Type: article
Study design: Observational Study
Abstract: metropolitan areas, China.Methods: MAPT, PGRN, CHCHD2, CHCHD10 or SIGMAR1 genes were analysed by direct sequencing, and C9orf72 hexanucleotide repeat expansion was analysed by repeat-primed PCR in 82 patients with FTD.The identified gene variants were screened in 400 age matched controls.Results: We found one known pathogenic variant (rs63750959) and one novel mutation (c.895C>T; H299Y) of MAPT gene, one novel variant (c.750C>A; D250E) of GRN gene, two known pathogenic variant rs142444896 (c.5C>T; p.P2L) and rs182992574 (c.255T>A; p.S85R) of CHCHD2 gene, two novel mutations (c.63C>T, no AA change; c.71G>A, P24L) of CHCHD10 gene, and a rare variant rs192856872 of SIGMAR1 gene.We did not find C9orf72 gene pathogenic repeat expansion in our FTD patient cohort, and the most common allele was two hexanucleotide repeats (112 of 164; 68.3%), followed by seven (16 of 164; 9.8%) and six repeats (15 of 164; 9.2%).Conclusions: Collectively, genetic testing could discover a 9.1% prevalence in sporadic FTD patients with genetic causes.In addition, MAPT, CHCHD2 and CHCHD10 might be more important genes affecting Chinese with FTD.
Source: Alzheimer s & Dementia
Authors: Margaret Gatz, Hillard Kaplan, Ben C. Trumble, Randall C. Thompson, Juan J. Copajira Adrian, M. Linda Sutherland, James D. Sutherland, Helena C. Chui, Daniel Eid Rodriguez, Raul Quispe Gutierrez, Daniel K. Cummings, Edmond Seabright, Guido P. Lombardi, David E. Michalik, Bruno Frohlich, Wendy J. Mack, Andrei Irimia, Heather M. Highland, Anne E. Justice, Kari E. North, Gregory S. Thomas, L. Samuel Wann, Jonathan Stieglitz, Michael Gurven, Caleb E. Finch
Institutions: University of Southern California, Chapman University, Arizona State University, University of Missouri–Kansas City, Universidad Mayor de San Simón, University of New Mexico, Universidad Peruana Cayetano Heredia, Miller Children's & Women's Hospital, Smithsonian Institution, University of North Carolina at Chapel Hill, Geisinger Health System, Ascension, Institute for Advanced Study in Toulouse, University of California, Santa Barbara
Language: English
Subfield: Psychiatry and Mental health
Field: Medicine
Domain: Health Sciences
Open Access status: bronze
OpenAlex ID: W2981244534