Author: ["Richard Crook","Auli Verkkoniemi","Jordi Perez-Tur","Nitin Mehta","Matt Baker","Henry Houlden","Matt Farrer","Mike Hutton","Sarah Lincoln","John Hardy","Katrina Gwinn","Mirja Somer","Anders Paetau","Hannu Kalimo","Raija Ylikoski","Minna Pöyhönen","Steve Kucera","Matti Haltia"]
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Abstract
We describe a novel variant of Alzheimer's disease (AD) in a Finnish pedigree with 17 affected individuals of both sexes in three generations. The disease is characterized by progressive dementia which is, in most cases, preceded by spastic paraparesis. Neuropathological investigations revealed numerous, distinct, large, round and eosinophilic plaques as well as neurofibrillary tangles and amyloid angiopathy throughout the cerebral cortex. The predominant plaques resembled cotton wool balls and were immunoreactive for Aβ but lacked a con-gophilic dense core or marked plaque-related neuritic pathology. Molecular genetic analysis revealed that the disease was caused by a deletion of exon 9 (Δ9) of the presenilin 1 (PSI) gene from the mRNA: unlike previous examples of the Δ9 variant, the deletion was not caused by a splice acceptor site mutation.Cite this article
Crook, R., Verkkoniemi, A., Perez-Tur, J. et al. A variant of Alzheimer's disease with spastic paraparesis and unusual plaques due to deletion of exon 9 of presenilin 1. Nat Med 4, 452–455 (1998). https://doi.org/10.1038/nm0498-452 