A variant of Alzheimer's disease with spastic paraparesis and unusual plaques due to deletion of exon 9 of presenilin 1

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

doi:10.1038/nm0498-452

A variant of Alzheimer's disease with spastic paraparesis and unusual plaques due to deletion of exon 9 of presenilin 1

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

Research output: Contribution to journal › Article › Scientific › peer-review

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.

Original language	English
Journal	Nature Medicine
Volume	4
Issue number	4
Pages (from-to)	452-455
Number of pages	4
ISSN	1546-170X
DOIs	https://doi.org/10.1038/nm0498-452
Publication status	Published - 1998
MoE publication type	A1 Journal article-refereed

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Crook, R., Verkkoniemi, A., Perez-Tur, J., Mehta, N., Baker, M., Houlden, H., Farrer, M., Hutton, M., Lincoln, S., Hardy, J., Gwinn, K., Somer, M., Paetau, A., Kalimo, H., Ylikoski, R., Pöyhönen, M., Kucera, S., & Haltia, M. (1998). A variant of Alzheimer's disease with spastic paraparesis and unusual plaques due to deletion of exon 9 of presenilin 1. Nature Medicine, 4(4), 452-455. https://doi.org/10.1038/nm0498-452

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title = "A variant of Alzheimer's disease with spastic paraparesis and unusual plaques due to deletion of exon 9 of presenilin 1",

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.",

author = "Richard Crook and Auli Verkkoniemi and Jordi Perez-Tur and Nitin Mehta and Matt Baker and Henry Houlden and Matt Farrer and Mike Hutton and Sarah Lincoln and John Hardy and Katrina Gwinn and Mirja Somer and Anders Paetau and Hannu Kalimo and Raija Ylikoski and Minna P{\"o}yh{\"o}nen and Steve Kucera and Matti Haltia",

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Crook, R, Verkkoniemi, A, Perez-Tur, J, Mehta, N, Baker, M, Houlden, H, Farrer, M, Hutton, M, Lincoln, S, Hardy, J, Gwinn, K, Somer, M, Paetau, A, Kalimo, H, Ylikoski, R , Pöyhönen, M, Kucera, S & Haltia, M 1998, 'A variant of Alzheimer's disease with spastic paraparesis and unusual plaques due to deletion of exon 9 of presenilin 1', Nature Medicine, vol. 4, no. 4, pp. 452-455. https://doi.org/10.1038/nm0498-452

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T1 - A variant of Alzheimer's disease with spastic paraparesis and unusual plaques due to deletion of exon 9 of presenilin 1

AU - Crook, Richard

AU - Verkkoniemi, Auli

AU - Perez-Tur, Jordi

AU - Mehta, Nitin

AU - Baker, Matt

AU - Houlden, Henry

AU - Farrer, Matt

AU - Hutton, Mike

AU - Lincoln, Sarah

AU - Hardy, John

AU - Gwinn, Katrina

AU - Somer, Mirja

AU - Paetau, Anders

AU - Kalimo, Hannu

AU - Ylikoski, Raija

AU - Pöyhönen, Minna

AU - Kucera, Steve

AU - Haltia, Matti

PY - 1998

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N2 - 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.

AB - 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.

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