Article
Alzheimer’s disease with spastic paraparesis and ‘cotton wool’ plaques: two pedigrees with PS-1 exon 9 deletions

Authors: Brooks W.S.^{1, 2}; Kwok J.B.J.³; Kril J.J.¹; Broe G.A.²; Blumbergs P.C.⁴; Tannenberg A.E.⁵; Lamont P.J.⁶; Hedges P.⁷; Schofield P.R.^{3, 8}

Source: Brain, Volume 126, Number 4, April 2003 , pp. 783-791(9)

Publisher: Oxford University Press

Buy & download fulltext article:

Price: $42.29 plus tax (Refund Policy)

Abstract:

Several pedigrees have recently been reported in which dominantly inherited familial Alzheimer’s disease is associated in some family members with spastic paraparesis and non-neuritic ‘cotton wool’ plaques. Here we report clinical, genetic and neuropathological findings in two further large pedigrees in which this combination of phenotypes is associated with a deletion of exon 9 of the presenilin-1 (PS-1) gene caused by mutations at the splice acceptor site. In both pedigrees, individuals with paraparesis at presentation had a later than average age at onset of symptoms. In addition, one subject with paraparesis had a much less prominent dementia syndrome than his dementia-affected siblings. As PS-1 mutations are almost always associated with a particularly aggressive form of presenile dementia, these findings suggest the existence of a protective or delaying factor in individuals with spastic paraparesis.

Document Type: Original article

Affiliations: 1: Centre for Education and Research on Ageing, University of Sydney and Concord Hospital, 2: Prince of Wales Medical Research Institute, University of New South Wales, 3: Garvan Institute of Medical Research, Sydney, 4: Institute of Medical and Veterinary Science and Department of Pathology, University of Adelaide, Adelaide, 5: Queensland Medical Laboratories, Brisbane, 6: Department of Neurology, Royal Perth Hospital, Perth, 7: Lourdes Hospital, Cobbora Road, Dubbo, and 8: School of Medicine, St Vincent’s Hospital, University of New South Wales, Sydney, Australia

Publication date: 2003-04-01

More about this publication?

Brain provides researchers and clinicians with the finest original contributions in neurology. Leading studies in neurological science are balanced with practical clinical articles. Its citation rating is one of the highest for neurology journals, and it consistently publishes papers that become classics in the field. The Editorial Board reflects both the journal's truly international readership and wide coverage.