Skip Navigation

This Article
Right arrow Full Text (PDF)
Right arrow Alert me when this article is cited
Right arrow Alert me if a correction is posted
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 Add to My Personal Archive
Right arrow Download to citation manager
Right arrow Search for citing articles in:
ISI Web of Science (26)
Right arrowRequest Permissions
Right arrow Disclaimer
Google Scholar
Right arrow Articles by Gool, W. A. v.
Right arrow Articles by Bolhuis, P. A.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Gool, W. A. v.
Right arrow Articles by Bolhuis, P. A.
Social Bookmarking
Add to CiteULike   Add to Connotea   Add to Del.icio.us  
What's this?

Brain, Vol. 118, No. 6, 1565-1571, 1995
© 1995 Guarantors of Brain

research-article

Hypokinesia and presenile dementia in a Dutch family with a novel insertion in the prion protein gene

W. A. van Gool1,, G. W. Hensels1, E. M. Hoogerwaard1, J. H. A. Wiezer2, P. Wesseling3 and P. A. Bolhuis1

1Department of Neurology, Academic Medical Centre, University of Amsterdam Amsterdam, The Netherlands 2Department of Neurology St Elisabeth Ziekenhuis, Venray, The Netherlands 3Department of Pathology, Academisch Ziekenhuis Nijmegen Nijmegen, The Netherlands

Correspondence to: Correspondence to: Dr W. A. van Gool, Department of Neurology, H2-214, Academic Medical Centre, University of Amsterdam, PO Box 22700, 1100 DE Amsterdam, The Netherlands

The clinical features and disease course of six patients from a family with autosomal dominant inheritance of presenile dementia and a hypokinetic syndrome are described. In the past, these patients have carried diagnoses of Pick's disease, Huntington's disease, Parkinson—dementia, and one patient was described as suffering from a ‘peculiar type of presenile dementia’ in a case report. In the two cases examined, the most distinctive neuropathological features were extensive globular deposits of periodic acid-Schiff plus diastase (PAS)positive material, having tinctural properties of amyloid only to a limited degree, in the cerebellum and cerebral cortex. These globules stained positively with antibodies against prion protein. Southern blot of Mspl-digested genomic DNA showed an abnormal band of ~950 bp in all three patients from which material was available. Direct sequencing of the abnormal allele revealed an insert consisting of eight extra 24-nucleotide repeats in the patients, which was absent in a healthy first degree relative who was considered well beyond the age of onset of symptoms in this family. The nucleotide sequence of the abnormal insert of 192 bp was different from that of a previously described insert of equal length. Adding to previous descriptions of mutations in the prion protein gene, this report emphasizes the clinical, neuropathological and genetic heterogeneity of inherited prion diseases

prion disease; Gerstmann—Sträussler—Scheinker disease; amyloid plaques; presenile dementia; genetic disease

Received April 26, 1995. Revised July 5, 1995. Accepted July 22, 1995.


Add to CiteULike CiteULike   Add to Connotea Connotea   Add to Del.icio.us Del.icio.us    What's this?


This article has been cited by other articles:


Home page
 BrainHome page
S. Mead, M. Poulter, J. Beck, T. E. F. Webb, T. A. Campbell, J. M. Linehan, M. Desbruslais, S. Joiner, J. D. F. Wadsworth, A. King, et al.
Inherited prion disease with six octapeptide repeat insertional mutation--molecular analysis of phenotypic heterogeneity.
Brain, September 1, 2006; 129(Pt 9): 2297 - 2317.
[Abstract] [Full Text] [PDF]

Home page
 J. Neurol. Neurosurg. PsychiatryHome page
E A Croes, J Theuns, J J Houwing-Duistermaat, B Dermaut, K Sleegers, G Roks, M Van den Broeck, B van Harten, J C van Swieten, M Cruts, et al.
Octapeptide repeat insertions in the prion protein gene and early onset dementia
J. Neurol. Neurosurg. Psychiatry, August 1, 2004; 75(8): 1166 - 1170.
[Abstract] [Full Text] [PDF]

Home page
 J. Neurol. Neurosurg. PsychiatryHome page
C Yanagihara, M Yasuda, K Maeda, K Miyoshi, and Y Nishimura
Rapidly progressive dementia syndrome associated with a novel four extra repeat mutation in the prion protein gene
J. Neurol. Neurosurg. Psychiatry, June 1, 2002; 72(6): 788 - 791.
[Abstract] [Full Text] [PDF]

Home page
 NeurologyHome page
B. van Harten, W. A. van Gool, I. M. van Langen, J. M. Deekman, P. H. S. Meijerink, and H. C. Weinstein
A new mutation in the prion protein gene: A patient with dementia and white matter changes
Neurology, October 10, 2000; 55(7): 1055 - 1057.
[Abstract] [Full Text] [PDF]

Home page
 Arch NeurolHome page
S. Collins, A. Boyd, A. Fletcher, K. Byron, C. Harper, C. A. McLean, and C. L. Masters
Novel Prion Protein Gene Mutation in an Octogenarian With Creutzfeldt-Jakob Disease
Arch Neurol, July 1, 2000; 57(7): 1058 - 1063.
[Abstract] [Full Text] [PDF]

Home page
 BrainHome page
J.-L. Laplanche, K. H. E. Hachimi, I. Durieux, P. Thuillet, L. Defebvre, N. Delasnerie-Laupretre, K. Peoc'h, J.-F. Foncin, and A. Destee
Prominent psychiatric features and early onset in an inherited prion disease with a new insertional mutation in the prion protein gene
Brain, December 1, 1999; 122(12): 2375 - 2386.
[Abstract] [Full Text] [PDF]


Disclaimer: Please note that abstracts for content published before 1996 were created through digital scanning and may therefore not exactly replicate the text of the original print issues. All efforts have been made to ensure accuracy, but the Publisher will not be held responsible for any remaining inaccuracies. If you require any further clarification, please contact our Customer Services Department.