No evidence of PGRN or MAPT gene dosage alterations in a collection of patients with frontotemporal lobar degeneration

Skoglund, Lena (author): Uppsala universitet,Geriatrik,Molekylär geriatrik,Uppsala Univ, Dept Publ Hlth & Caring Sci, SE-75185 Uppsala, Sweden

Ingvast, Sofie (author): Uppsala universitet,Geriatrik,Molekylär geriatrik,Uppsala Univ, Dept Publ Hlth & Caring Sci, SE-75185 Uppsala, Sweden

Matsui, Toshifumi (author): Harvard Univ, Sch Med, Massachusetts Gen Hosp, Charlestown, MA USA

Freeman, Stefanie (author): Harvard Univ, Sch Med, Massachusetts Gen Hosp, Charlestown, MA USA

Frosch, Matthew (author): Harvard Univ, Sch Med, Massachusetts Gen Hosp, Charlestown, MA USA

Brundin, Rosemarie (author): Uppsala universitet,Geriatrik,Molekylär geriatrik,Uppsala Univ, Dept Publ Hlth & Caring Sci, SE-75185 Uppsala, Sweden

Giedraitis, Vilmantas (author): Uppsala universitet,Geriatrik,Molekylär geriatrik,Uppsala Univ, Dept Publ Hlth & Caring Sci, SE-75185 Uppsala, Sweden

Growdon, John (author): Harvard Univ, Sch Med, Massachusetts Gen Hosp, Charlestown, MA USA

Hyman, Bradley (author): Harvard Univ, Sch Med, Massachusetts Gen Hosp, Charlestown, MA USA

Lannfelt, Lars (author): Uppsala universitet,Geriatrik,Molekylär geriatrik,Uppsala Univ, Dept Publ Hlth & Caring Sci, SE-75185 Uppsala, Sweden

Ingelsson, Martin (author): Uppsala universitet,Geriatrik,Molekylär geriatrik,Uppsala Univ, Dept Publ Hlth & Caring Sci, SE-75185 Uppsala, Sweden

Glaser, Anna (author): Uppsala universitet,Geriatrik,Uppsala Univ, Dept Publ Hlth & Caring Sci, SE-75185 Uppsala, Sweden

(creator_code:org_t)

2009-11-23
2009
English.
In: Dementia and Geriatric Cognitive Disorders. - : S. Karger AG. - 1420-8008 .- 1421-9824. ; 28:5, s. 471-475

Related links:: https://europepmc.or...; show more...; https://urn.kb.se/re...; https://doi.org/10.1...; https://urn.kb.se/re...; show less...

Abstract Subject headings

Background/Aims Alterations in gene dosage have recently been associated with neurodegenerative disorders, such as Alzheimer's disease and Parkinson's disease, and deletions of the progranulin (PGRN) locus were recently described in patients with frontotemporal lobar degeneration (FTLD). FTLD is a genetically complex neurodegenerative disorder with mutations in the PGRN and the microtubule-associated protein tau (MAPT) genes being the most common known causes of familial FTLD. In this study, we investigated 39 patients with FTLD, previously found negative for mutations in PGRN and MAPT, for copy number alterations of these 2 genes. Methods Gene dosage analysis of PGRN and MAPT was performed using multiplex ligation-dependent probe amplification. Results We did not identify any PGRN or MAPT gene dosage variations in the 39 FTLD patients investigated. Conclusion We therefore conclude that alterations in gene copy number of PGRN and MAPT are not a cause of disease in this ollection of FTLD patients.

By the author/editor: Skoglund, Lena; Ingvast, Sofie; Matsui, Toshifum ...; Freeman, Stefani ...; Frosch, Matthew; Brundin, Rosemar ...; show more...; Giedraitis, Vilm ...; Growdon, John; Hyman, Bradley; Lannfelt, Lars; Ingelsson, Marti ...; Glaser, Anna; show less...

About the subject

MEDICAL AND HEALTH SCIENCES: MEDICAL AND HEAL ...; and Basic Medicine; and Medical Genetics

Kungliga biblioteket hanterar dina personuppgifter i enlighet med EU:s dataskyddsförordning (2018), GDPR. Läs mer om hur det funkar här.
Så här hanterar KB dina uppgifter vid användning av denna tjänst.