Variant alzheimer disease with spastic paraparesis: A rare presenilin-1 mutation

Canadian Journal of Neurological Sciences

Volumn 38, Issue 4, 2011, Pages 659-661

  Pettersen, Jacqueline ^a,b   Patry, David ^c   St george Hyslop, Peter ^d   Curry, Bernadette ^c  

^a UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^b UNIVERSITY OF NORTHERN BRITISH COLUMBIA   (Canada)

^c UNIVERSITY OF CALGARY   (Canada)

^d UNIVERSITY OF TORONTO   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

MUTANT PROTEIN; PRESENILIN 1;

ADULT; ALZHEIMER DISEASE; AMINO ACID SUBSTITUTION; ANAMNESIS; ARTICLE; BEHAVIOR DISORDER; CASE REPORT; COGNITIVE DEFECT; FATALITY; FEMALE; HUMAN; HUMAN TISSUE; MISSENSE MUTATION; NEUROPATHOLOGY; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; SPASTIC PARAPLEGIA; GENETICS; MIDDLE AGED; MUTATION; PATHOLOGY;

ALZHEIMER DISEASE; FEMALE; HUMANS; MIDDLE AGED; MUTATION; PARAPARESIS, SPASTIC; PRESENILIN-1;

EID: 80053330499     PISSN: 03171671     EISSN: None     Source Type: Journal    
DOI: 10.1017/S0317167100012233     Document Type: Article

References (5)

1. Smith MJ, Kwok JBJ, McLean CA, et al. Variable phenotype of Alzheimer's disease with spastic paraparesis. Ann Neurol. 2001;49:125-9.
2. Tabira T, Chui DH, Nakayama H, Kuroda S, Shibuya M. Alzheimer's disease with spastic paraparesis and cotton wool type plaques. J Neurosci Res. 2002;70:367-72.
3. O'Riordan S, McMonagle P, Janssen JC, et al. Presenilin-1 mutation (E280G), spastic paraparesis, and cranial white-matter abnormalities. Neurology. 2002;59:1108-10.
4. Jacquemont M-L, Campion D, Hahn V, et al. Spastic paraparesis and atypical dementia caused by PSEN1 mutation (P264L), responsible for Alzheimer's disease. J Med Genet. 2002;39:e2.
5. Rogaeva E, Bergeron C, Sato C, et al. PS1 Alzheimer's disease family with spastic paraparesis: The search for a gene modifier. Neurology. 2003;61:1005-7.