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

I. Uttner; J. Kirchheiner; H. Tumani; F. M. Mottaghy; E. Lebedeva; E. Oezer; A. C. Ludolph; Rudolf M. Huber; Christine A. F. von Arnim

doi:10.1111/j.1468-1331.2009.02810.x

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

I. Uttner, J. Kirchheiner, H. Tumani, F. M. Mottaghy, E. Lebedeva, E. Oezer, A. C. Ludolph, Rudolf M. Huber, Christine A. F. von Arnim^*

^*Corresponding author for this work

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

12 Citations (Web of Science)

Abstract

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.

Original language	English
Pages (from-to)	631-633
Journal	European Journal of Neurology
Volume	17
Issue number	4
DOIs	https://doi.org/10.1111/j.1468-1331.2009.02810.x
Publication status	Published - Apr 2010

Keywords

Alzheimer's
CSF
familial
FDG-PET
neuropsychology
presenilin
spastic paraparesis

Access to Document

10.1111/j.1468-1331.2009.02810.x

Cite this

Uttner, I., Kirchheiner, J., Tumani, H., Mottaghy, F. M., Lebedeva, E., Oezer, E., Ludolph, A. C., Huber, R. M., & von Arnim, C. A. F. (2010). A novel presenilin1 mutation (Q223R) associated with early onset Alzheimer's disease, dysarthria and spastic paraparesis and decreased Abeta levels in CSF. European Journal of Neurology, 17(4), 631-633. https://doi.org/10.1111/j.1468-1331.2009.02810.x

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

abstract = "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.",

keywords = "Alzheimer's, CSF, familial, FDG-PET, neuropsychology, presenilin, spastic paraparesis",

author = "I. Uttner and J. Kirchheiner and H. Tumani and Mottaghy, {F. M.} and E. Lebedeva and E. Oezer and Ludolph, {A. C.} and Huber, {Rudolf M.} and {von Arnim}, {Christine A. F.}",

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Uttner, I, Kirchheiner, J, Tumani, H, Mottaghy, FM, Lebedeva, E, Oezer, E, Ludolph, AC, Huber, RM & von Arnim, CAF 2010, 'A novel presenilin1 mutation (Q223R) associated with early onset Alzheimer's disease, dysarthria and spastic paraparesis and decreased Abeta levels in CSF', European Journal of Neurology, vol. 17, no. 4, pp. 631-633. https://doi.org/10.1111/j.1468-1331.2009.02810.x

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AU - Uttner, I.

AU - Kirchheiner, J.

AU - Tumani, H.

AU - Mottaghy, F. M.

AU - Lebedeva, E.

AU - Oezer, E.

AU - Ludolph, A. C.

AU - Huber, Rudolf M.

AU - von Arnim, Christine A. F.

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AB - 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.

KW - Alzheimer's

KW - CSF

KW - familial

KW - FDG-PET

KW - neuropsychology

KW - presenilin

KW - spastic paraparesis

U2 - 10.1111/j.1468-1331.2009.02810.x

DO - 10.1111/j.1468-1331.2009.02810.x

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SN - 1351-5101

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JO - European Journal of Neurology

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