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Novel Progranulin Mutation Detected in 2 Patients With FTLD.
- Source :
- Alzheimer Disease & Associated Disorders; Apr-Jun2011, Vol. 25 Issue 2, p173-178, 6p
- Publication Year :
- 2011
-
Abstract
- The article presents a study which investigates the progranulin gene (PGRN) mutation in patients with frontotemporal lobar degeneration (FTLD). It says that PGRN mutation accounts for ubiquitin-positive frontotemporal dementias (FTD) in which it introduces premature termination in the PGRN mRNA sequence. The study shows that genetic analysis of FTLD patients reveals a novel PGRN frameshift mutation and reduction of PGRN mRNA.
Details
- Language :
- English
- ISSN :
- 08930341
- Volume :
- 25
- Issue :
- 2
- Database :
- Supplemental Index
- Journal :
- Alzheimer Disease & Associated Disorders
- Publication Type :
- Academic Journal
- Accession number :
- 61407491
- Full Text :
- https://doi.org/10.1097/WAD.0b013e3181fbc22c