A novel presenilin1 mutation (Q223R) associated with early onset Alzheimer's disease, dysarthria and spastic paraparesis and decreased Abeta levels in CSF

Autor:	Uttner, I., Kirchheiner, J., Tumani, H., Mottaghy, F. M., Lebedeva, E., Oezer, E., Ludolph, A. C., Huber, Rudolf M., von Arnim, Christine A. F.
Přispěvatelé:	Beeldvorming, RS: MHeNs School for Mental Health and Neuroscience
Jazyk:	angličtina
Rok vydání:	2010
Předmět:	neuropsychology spastic paraparesis familial presenilin CSF Alzheimer's FDG-PET
Zdroj:	European Journal of Neurology, 17(4), 631-633. Wiley
ISSN:	1351-5101
Popis:	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.Genetic analysis revealed a missense mutation Gln223Arg in exon 7. Initial CSF analysis revealed drastically decreased Abeta42 level despite marginally decreased FDG metabolism.Cerebrospinal fluid biomarker analysis might point towards genetic analysis of PSEN1 in patients with positive family history and age of onset below 60 years.
Databáze:	OpenAIRE
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