A presenilin 1 R278I mutation presenting with language impairment

Presenilin (PSEN)1 mutations are responsible for many cases of autosomal dominant Alzheimer disease (AD), although the clinical spectrum has not been fully defined. The authors describe two members of a kindred with a novel PSEN1 mutation (R278I) presenting with language impairment and relative preservation of memory. Screening for PSEN1 mutations may be appropriate in cases of familial dementia even where the clinical phenotype is not typical of AD.

[1]  D. Dunger,et al.  Subject Index Vol. 60, Suppl. 3, 2003 , 2003, Hormone Research in Paediatrics.

[2]  T. Iwatsubo,et al.  The role of presenilin cofactors in the γ-secretase complex , 2003, Nature.

[3]  Andrew Kertesz,et al.  Primary progressive aphasia and Pick complex , 2003, Journal of the Neurological Sciences.

[4]  M. Tabaton,et al.  Pure spastic paraparesis associated with a novel presenilin 1 R278K mutation , 2003, Neurology.

[5]  T. Iwatsubo,et al.  The role of presenilin cofactors in the gamma-secretase complex. , 2003, Nature.

[6]  Nick C Fox,et al.  Presenilin-1 mutation (E280G), spastic paraparesis, and cranial MRI white-matter abnormalities. , 2002, Neurology.

[7]  M. Rossor,et al.  Neuropsychological profiles of familial Alzheimer's disease associated with mutations in the presenilin 1 and amyloid precursor protein genes , 2001, Journal of Neurology.

[8]  Nick C Fox,et al.  Pathogenic presenilin 1 mutations (P436S & I143F) in early-onset Alzheimer's disease in the UK. Mutations in brief no. 223. Online. , 1999 .

[9]  J. Hardy,et al.  Two novel (M233T and ρ278T) presenilin‐1 mutations in early‐onset Alzheimer's disease pedigrees and preliminary evidence for association of presenilin‐1 mutations with a novel phenotype , 1997, Neuroreport.

[10]  R. Frackowiak,et al.  Chromosome 14 linked familial Alzheimer's disease. A clinico-pathological study of a single pedigree. , 1995, Brain : a journal of neurology.

[11]  M. Folstein,et al.  Clinical diagnosis of Alzheimer's disease , 1984, Neurology.