Nick C. Fox|Am Kennedy|R. J. Harvey|P. L. Lantos|Pk Roques|John Collinge|John Hardy|Mike Hutton|J. M. Stevens|E. K. Warrington|Martin N. Rossor
Clinicopathological features of familial Alzheimer's disease associated with the M139V mutation in the presenilin 1 gene. Pedigree but not mutation specific age at onset provides evidence for a further genetic factor
University College London|National Hospital for Neurology and Neurosurgery
sixteen affected individuals described two families early onset autosomal dominant familial alzheimers disease mutation codon 139 presenilin 1 gene chromosome 14 results methionine valine substitution cosegregates disease families onset dementia age 50 years individuals ages onset within family tightly clustered significantly different families difference could accounted apolipoprotein e status suggests existence genetic factor modifies age disease onset pattern cognitive decline similar families early memory loss initially selective verbal memory individuals followed soon loss arithmetic skills naming object perception skills relatively preserved speech production deficit observed three members one family seizures common usually predated myoclonic jerks number years serial mris showed progressive cortical atrophy periventricular white matter change appearing 34 years disease pet revealed parietotemporal hypometabolism individuals scanned diagnosis alzheimers disease confirmed typical histopathology one individual family