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A novel presenilin1 mutation (Q223R) associated with early onset Alzheimer’s disease, dysarthria and spastic paraparesis and decreased Abeta levels in CSF
Author(s) -
Uttner I.,
Kirchheiner J.,
Tumani H.,
Mottaghy F. M.,
Lebedeva E.,
Özer E.,
Ludolph A. C.,
Huber R.,
Von Arnim C. A. F.
Publication year - 2010
Publication title -
european journal of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.881
H-Index - 124
eISSN - 1468-1331
pISSN - 1351-5101
DOI - 10.1111/j.1468-1331.2009.02810.x
Subject(s) - medicine , psen1 , dysarthria , dementia , missense mutation , family history , frontotemporal dementia , cognitive decline , spasticity , disease , oncology , mutation , pediatrics , alzheimer's disease , audiology , genetics , physical medicine and rehabilitation , presenilin , gene , biology
Background and purpose: A novel presenilin1 (PSEN1) mutation associated with dementia and spastic paraplegia in a family with five affected individuals is described. The index patient was a 35‐year‐old man presenting with cognitive decline, behavioural symptoms, dysarthria, and gait disorder due to spasticity. Methods and results: Genetic analysis revealed a missense mutation Gln223Arg in exon 7. Initial CSF analysis revealed drastically decreased Abeta42 level despite marginally decreased FDG metabolism. Conclusion: Cerebrospinal fluid biomarker analysis might point towards genetic analysis of PSEN1 in patients with positive family history and age of onset below 60 years.