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Article

Alzheimer's disease with spastic paraparesis and 'cotton wool' plaques: two pedigrees with PS-1 exon 9 deletions.

Brain : a journal of neurology - 1 Apr 2003

Brooks William S, Kwok John B J, Kril Jillian J, Broe G Anthony, Blumbergs Peter C, Tannenberg Anthony E, Lamont Phillipa J, Hedges Philippa, Schofield Peter R

Abstract excerpt

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...

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Source

Identifiers

PMID: 12615638
DOI: 10.1093/brain/awg084

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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