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A presenilin 1 mutation (Arg278Ser) associated with early onset Alzheimer's disease and spastic paraparesis
Authors:Raman Ashok  Lin Xia  Suri Mohnish  Hewitt Monica  Constantinescu Cris S  Phillips Margaret F
Affiliation:

aUniversity of Nottingham Division of Clinical Neurosciences, University Hospital, Queen’s Medical Centre, Nottingham, UK

bUniversity of Nottingham Division of Rehabilitation and Ageing, Derby City General Hospital, Uttoxeter Road, Derby DE22 3NE, UK

cClinical Genetics Service, Nottingham City Hospital, Nottingham, UK

Abstract:Early onset familial Alzheimer’s disease (EOFAD) has been associated with mutations in three genes, of which presenilin 1 (PSEN1) mutations are the most frequent. Several families with an association of progressive dementia and spastic paraplegia caused by PSEN1 mutations have been described. Here we described a novel PSEN1 mutation that was associated with dementia and spastic paraplegia in a family with 5 affected individuals in three generations. The proband was a 44-year-old woman who presented with 5 years history of progressive difficulties in walking, cognition and visuospatial impairment. Her maternal grandmother, mother and two maternal aunts also had similar neurological presentation. Molecular genetic analysis showed a missense mutation predicted to substitute an arginine residue for a serine residue at position 278 in the PSEN1 polypeptide (Arg278Ser). The novel PSEN1 mutation identified in this patient adds to the diverse list of existing mutations causing EOFAD associated with spastic paraparesis.
Keywords:Presenilin 1   Early onset   Familial Alzheimer’s disease   Spastic paraparesis
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