A novel presenilin 1 mutation, I202F occurring at a previously predicted pathogenic site causing autosomal dominant Alzheimer's disease

Neurobiology of Aging

Volumn 32, Issue 3, 2011, Pages 556.e1-556.e2

  Church, Alistair ^a   Prescott, Junita ^b   Lillis, Suzanne ^b   Rees, Janice ^c   Chance, Patrick ^c   Williamson, Kathryn ^c   Morris, Huw R ^a,d  

^a ROYAL GWENT HOSPITAL   (United Kingdom)

^b GUY S HOSPITAL   (United Kingdom)

^c Grounds of St Cadoc's Hospital   (United Kingdom)

^d CARDIFF UNIVERSITY SCHOOL OF MEDICINE   (United Kingdom)

Author keywords

Alzheimer's disease; Mutation; Presenilin 1 (PSEN1)

Indexed keywords

PRESENILIN 1;

ADULT; AGGRESSION; AGITATION; ALZHEIMER DISEASE; ANOMIA; ARTICLE; ATTENTION DEFICIT DISORDER; AUTOSOMAL DOMINANT DISORDER; BRADYKINESIA; CASE REPORT; DEPRESSION; DISEASE COURSE; DISORIENTATION; DYSPRAXIA; FACIES; FEMALE; GAIT DISORDER; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; HETEROZYGOSITY; HUMAN; LANGUAGE DISABILITY; MALE; MEMORY DISORDER; MINI MENTAL STATE EXAMINATION; NUCLEOTIDE SEQUENCE; ONSET AGE; PARKINSONISM; PRIORITY JOURNAL; PSEN1 GENE; PSYCHOSIS; TREMOR;

EID: 79952900076     PISSN: 01974580     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.neurobiolaging.2010.09.030     Document Type: Article

References (3)

1. Coleman P., Kurlan R., Crook R., Werner J., Hardy J. A new presenilin Alzheimer's disease case confirms the helical alignment of pathogenic mutations in transmembrane domain 5. Neurosci. Lett. 2004, 364:139-140.
2. Hardy J., Crook R. Presenilin mutations line up along transmembrane alpha-helices. Neurosci. Lett. 2001, 306:203-205.
3. Janssen J.C., Beck J.A., Campbell T.A., Dickinson A., Fox N.C., Harvey R.J., Houlden H., Rossor M.N., Collinge J. Early onset familial Alzheimer's disease: Mutation frequency in 31 families. Neurology 2003, 60:235-239.