Genotype-Phenotype Correlation in Early-onset Alzheimer Disease with Presenilin 1 Gene Mutations [1]

Archives of Neurology

Volumn 61, Issue 5, 2004, Pages 801-

  Larner, A J ^a  

^a NONE

Author keywords

[No Author keywords available]

Indexed keywords

PRESENILIN 1;

ALZHEIMER DISEASE; BEHAVIOR; CLINICAL FEATURE; DISEASE DURATION; GENE MUTATION; GENETIC HETEROGENEITY; GENETIC RISK; GENOTYPE PHENOTYPE CORRELATION; HEREDITY; HUMAN; LETTER; NEUROPATHOLOGY; ONSET AGE; PEDIGREE; PRIORITY JOURNAL; RISK FACTOR;

EID: 2442443209     PISSN: 00039942     EISSN: None     Source Type: Journal    
DOI: 10.1001/archneur.61.5.801-a     Document Type: Letter

References (5)

1. Rippon GA, Crook R, Baker M, et al. Presenilin 1 mutation in an African American family presenting with atypical Alzheimer dementia. Arch Neurol. 2003;60:884-888.
2. Larner AJ, du Plessis DG. Early-onset Alzheimer's disease with presenilin-1 M139V mutation: clinical, neuropsychological and neuropathological study. Eur J Neurol. 2003;10:319-323.
3. Hanisch F, Koelmel H. Genotype-phenotype analysis in early-onset Alzheimer's disease due to presenilin-1 mutations at codon 139 [abstract]. J Neurol. 2003;250(suppl 2):1198.
4. Raux G, Gantier R, Thomas-Anterion C, et al. Dementia with prominent frontotemporal features associated with the L113P presenilin 1 mutation. Neurology. 2000;55:1577-1578.
5. Queralt R, Ezquerra M, Lleó A, et al. A novel mutation (V89L) in the presenilin-1 gene in a family with early onset Alzheimer's disease and marked behavioural disturbances. J Neurol Neurosurg Psychiatry. 2002;72:266-269.