Pure spastic paraparesis associated with a novel presenilin 1 R278K mutation
Authors:
- 14 January 2003
- journal article
- case report
- Published by Wolters Kluwer Health in Neurology
- Vol. 60 (1) , 150
Abstract
A 45-year-old woman (I-1) showed progressive paraparesis followed after 5 years by dementia. She died at age 57, and autopsy was not performed. Her daughter (II-2) presented at 48 years with delusional thinking followed by progressive impairment of all cognitive functions. Neurologic examination at 55 years did not reveal loss of strength or pyramidal signs at the limbs. Her brother (II-3) became symptomatic at the …Keywords
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