Neurology
HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS
QUICK SEARCH:   [advanced]


     

This Article
Right arrow Figures Only
Right arrow Full Text
Right arrow Full Text (PDF)
Right arrow Correspondence:
Submit a response
Right arrow Alert me when this article is cited
Right arrow Alert me when Correspondence are posted
Right arrow Alert me if a correction is posted
Right arrow Citation Map
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Download to citation manager
Right arrow reprints & permissions
Citing Articles
Right arrow Citing Articles via HighWire
Right arrow Citing Articles via Google Scholar
Google Scholar
Right arrow Articles by O’Riordan, S.
Right arrow Articles by Hutchinson, M.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by O’Riordan, S.
Right arrow Articles by Hutchinson, M.
Related Collections
Right arrow MRI
Right arrow Spastic paraplegia
Right arrow All Cognitive Disorders/Dementia
Right arrow Alzheimer's disease
Right arrow All Genetics

Neurology 2002;59:1108-1110
© 2002 American Academy of Neurology
Brief Communications

Presenilin-1 mutation (E280G), spastic paraparesis, and cranial MRI white-matter abnormalities

S. O’Riordan, MRCPI, P. McMonagle, MRCPI, J. C. Janssen, MRCP, N. C. Fox, MD, M. Farrell, FRCPI FRCPath, J. Collinge, MD, M. N. Rossor, MD and M. Hutchinson, FRCP

From St. Vincent’s University Hospital (Drs. O’Riordan, McMonagle, and Prof. Hutchinson), Dublin; Department of Neuropathology (Prof. Farrell), Beaumont Hospital, Dublin, Ireland; Institute of Neurology (Drs. Janssen, Fox, and Prof. Rossor), Queen Square, London; and Department of Neurogenetics (Prof. Collinge), Imperial College School of Medicine, London, United Kingdom.

Address correspondence and reprint requests to Prof. M. Hutchinson, Department of Neurology, St. Vincent’s University Hospital, Elm Park, Dublin 4, Ireland; e-mail: michael.hutchinson{at}svcpc.ie

The authors report unusual presentations of members of an Irish family with familial AD due to an E280G mutation in exon 8 of presenilin-1. One had spastic paraparesis and white matter abnormalities on cranial MRI. A sibling had an internuclear ophthalmoplegia, spastic–ataxic quadriparesis, and "cotton-wool plaques" with amyloid angiopathy on brain biopsy. Another affected sibling also had MRI white matter abnormalities. The MRI findings may reflect an ischemic leukoencephalopathy due to amyloid angiopathy affecting meningocortical vessels.




This article has been cited by other articles:


Home page
 J. Neurosci.Home page
O. Lazarov, G. A. Morfini, G. Pigino, A. Gadadhar, X. Chen, J. Robinson, H. Ho, S. T. Brady, and S. S. Sisodia
Impairments in Fast Axonal Transport and Motor Neuron Deficits in Transgenic Mice Expressing Familial Alzheimer's Disease-Linked Mutant Presenilin 1
J. Neurosci., June 27, 2007; 27(26): 7011 - 7020.
[Abstract] [Full Text] [PDF]

Home page
 AJGPHome page
K. R. R. Krishnan
Concept of Disease in Geriatric Psychiatry
Am J Geriatr Psychiatry, January 1, 2007; 15(1): 1 - 11.
[Abstract] [Full Text] [PDF]

Home page
 BrainHome page
L. Cabrejo, L. Guyant-Marechal, A. Laquerriere, M. Vercelletto, F. De La Fourniere, C. Thomas-Anterion, C. Verny, F. Letournel, F. Pasquier, A. Vital, et al.
Phenotype associated with APP duplication in five families
Brain, November 1, 2006; 129(11): 2966 - 2976.
[Abstract] [Full Text] [PDF]

Home page
 NeurologyHome page
M. G. Marrosu, G. Floris, G. Costa, L. Schirru, G. Spinicci, M. V. Cherchi, M. Mura, M. G. Mascia, and E. Cocco
Dementia, pyramidal system involvement, and leukoencephalopathy with a presenilin 1 mutation
Neurology, January 10, 2006; 66(1): 108 - 111.
[Abstract] [Full Text] [PDF]

Home page
 NeurologyHome page
A. K. Godbolt, J. A. Beck, J. Collinge, P. Garrard, J. D. Warren, N. C. Fox, and M. N. Rossor
A presenilin 1 R278I mutation presenting with language impairment
Neurology, November 9, 2004; 63(9): 1702 - 1704.
[Abstract] [Full Text] [PDF]

Home page
 Arch NeurolHome page
S. Ataka, T. Tomiyama, H. Takuma, T. Yamashita, H. Shimada, T. Tsutada, K. Kawabata, H. Mori, and T. Miki
A Novel Presenilin-1 Mutation (Leu85Pro) in Early-Onset Alzheimer Disease With Spastic Paraparesis
Arch Neurol, November 1, 2004; 61(11): 1773 - 1776.
[Abstract] [Full Text] [PDF]

Home page
 NEJMHome page
M. G. Schlossmacher, C. Hamann, A. G. Cole, R. G. Gonzalez, and M. P. Frosch
Case 27-2004 - A 79-Year-Old Woman with Disturbances in Gait, Cognition, and Autonomic Function
N. Engl. J. Med., August 26, 2004; 351(9): 912 - 922.
[Full Text] [PDF]

Home page
 AJGPHome page
A. Lleo, O. Berezovska, J. H. Growdon, and B. T. Hyman
Clinical, Pathological, and Biochemical Spectrum of Alzheimer Disease Associated With PS-1 Mutations
Am J Geriatr Psychiatry, April 1, 2004; 12(2): 146 - 156.
[Abstract] [Full Text] [PDF]

Home page
 Postgrad. Med. J.Home page
E L Sampson, J D Warren, and M N Rossor
Young onset dementia
Postgrad. Med. J., March 1, 2004; 80(941): 125 - 139.
[Abstract] [Full Text] [PDF]

Home page
 J. Neurol. Neurosurg. PsychiatryHome page
S Love
Contribution of cerebral amyloid angiopathy to Alzheimer's disease
J. Neurol. Neurosurg. Psychiatry, January 1, 2004; 75(1): 1 - 4.
[Full Text] [PDF]

Home page
 BrainHome page
J. M. Heckmann, W.-C. Low, C. de Villiers, S. Rutherfoord, A. Vorster, H. Rao, C. M. Morris, R. S. Ramesar, and R. N. Kalaria
Novel presenilin 1 mutation with profound neurofibrillary pathology in an indigenous Southern African family with early-onset Alzheimer's disease
Brain, January 1, 2004; 127(1): 133 - 142.
[Abstract] [Full Text] [PDF]

Home page
 NeurologyHome page
E. Rogaeva, C. Bergeron, C. Sato, I. Moliaka, T. Kawarai, A. Toulina, Y-Q. Song, T. Kolesnikova, A. Orlacchio, G. Bernardi, et al.
PS1 Alzheimer's disease family with spastic paraplegia: The search for a gene modifier
Neurology, October 14, 2003; 61(7): 1005 - 1007.
[Abstract] [Full Text] [PDF]

Home page
 BrainHome page
W. S. Brooks, J. B. J. Kwok, J. J. Kril, G. A. Broe, P. C. Blumbergs, A. E. Tannenberg, P. J. Lamont, P. Hedges, and P. R. Schofield
Alzheimer's disease with spastic paraparesis and 'cotton wool' plaques: two pedigrees with PS-1 exon 9 deletions
Brain, April 1, 2003; 126(4): 783 - 791.
[Abstract] [Full Text] [PDF]

Home page
 J. Biol. Chem.Home page
J. B. J. Kwok, G. M. Halliday, W. S. Brooks, G. Dolios, H. Laudon, O. Murayama, M. Hallupp, R. F. Badenhop, J. Vickers, R. Wang, et al.
Presenilin-1 Mutation L271V Results in Altered Exon 8 Splicing and Alzheimer's Disease with Non-cored Plaques and No Neuritic Dystrophy
J. Biol. Chem., February 21, 2003; 278(9): 6748 - 6754.
[Abstract] [Full Text] [PDF]

Home page
 NeurologyHome page
M. G. Marrosu, G. Floris, G. Costa, L. Schirru, G. Spinicci, M. V. Cherchi, M. Mura, M. G. Mascia, and E. Cocco
Dementia, pyramidal system involvement, and leukoencephalopathy with a presenilin 1 mutation
Neurology, January 10, 2006; 66(1): 108 - 111.
[Abstract] [Full Text] [PDF]


HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS
Copyright © 2002 by AAN Enterprises, Inc.