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A presenilin 1 mutation (L420R) in a family with early onset Alzheimer disease, seizures and cotton wool plaques, but not spastic paraparesis
Author(s) -
Shrimpton Antony E.,
Schelper Robert L.,
Linke Reinhold P.,
Hardy John,
Crook Richard,
Dickson Dennis W.,
Ishizawa Takashi,
Davis Richard L.
Publication year - 2007
Publication title -
neuropathology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.701
H-Index - 61
eISSN - 1440-1789
pISSN - 0919-6544
DOI - 10.1111/j.1440-1789.2007.00766.x
Subject(s) - psen1 , presenilin , missense mutation , early onset alzheimer's disease , mutation , medicine , genetics , point mutation , alzheimer's disease , disease , gene , pathology , biology
Over 100 mutations in the presenilin‐1 gene ( PSEN1 ) have been shown to result in familial early onset Alzheimer disease (EOAD), but only a relatively few give rise to plaques with an appearance like cotton wool (CWP) and/or spastic paraparesis (SP). A family with EOAD, seizures and CWP was investigated by neuropathological study and DNA sequencing of the PSEN1 gene. Aβ was identified in leptomeningeal vessels and in cerebral plaques. A single point mutation, p.L420R (g.1508T > G) that gives rise to a missense mutation in the eighth transmembrane (TM8) domain of PS1 was identified in two affected members of the family. p.L420R (g.1508T > G) is the mutation responsible for EOAD, seizures and CWP without SP in this family.