Clinical presentation of early-onset Alzheimer's disease as a result of mutation in exon 12 of the PSEN-1 gene

American Journal of Alzheimer's Disease and other Dementias

Volumn 29, Issue 8, 2014, Pages 732-734

  Klimkowicz Mrowiec, Aleksandra ^a   Bodzioch, M ^a   Szczudlik, A ^a   Slowik, A ^a  

^a UNIVERSITY HOSPITAL IN KRAKOW   (Poland)

Author keywords

Alzheimer's disease; mutation; phenotype; phenotype of codon 424 (Leu Arg); PS1; PSEN 1 gene mutation

Indexed keywords

APOLIPOPROTEIN E; CARBAMAZEPINE; CHOLESTEROL; DONEPEZIL; PRESENILIN 1; SIMVASTATIN; PSEN1 PROTEIN, HUMAN;

ADULT; AGGRESSION; ALZHEIMER DISEASE; APATHY; APHASIA; ARTICLE; ATROPHY; BEHAVIOR DISORDER; CASE REPORT; CLOCK TEST; CODON; COGNITIVE DEFECT; COMPUTER ASSISTED TOMOGRAPHY; CORPUS CALLOSUM; DEMENTIA; DYSDIADOCHOKINESIS; DYSTONIA; EARLY ONSET ALZHEIMER DISEASE; ELECTROENCEPHALOGRAM; EPILEPSY; EXON; EXPLOSIVENESS; EXTRAPYRAMIDAL SYMPTOM; FAMILY HISTORY; FEMALE; FOLLOW UP; GAIT DISORDER; GENE MUTATION; GENETIC SCREENING; HUMAN; HUNTINGTON CHOREA; HYPERCHOLESTEROLEMIA; INTELLECTUAL IMPAIRMENT; INVOLUNTARY MOVEMENT; MINI MENTAL STATE EXAMINATION; NEUROLOGIC EXAMINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PHYSICAL DISABILITY; PRION DISEASE; PSYCHOLOGIC TEST; PYRAMIDAL SIGN; SEIZURE; SUBARACHNOID SPACE; VOLUNTARY MOVEMENT; COMPLICATION; DYSKINESIAS; GENETICS; MENTAL DISORDERS; MUTATION; PATHOPHYSIOLOGY; PHENOTYPE;

ADULT; ALZHEIMER DISEASE; DYSKINESIAS; EPILEPSY; EXONS; FEMALE; HUMANS; MENTAL DISORDERS; MUTATION; PHENOTYPE; PRESENILIN-1;

EID: 84911405933     PISSN: 15333175     EISSN: 19382731     Source Type: Journal    
DOI: 10.1177/1533317514536599     Document Type: Article

References (12)

1. Folstein MF, Folstein SE. McHugh PR. "Mini Mental State": a practical method for grading the cognitive state of patients for the clinician. J Psychiatr Res. 1975 ; 12 ((3)). 189-198
2. Sunderland T, Hill JL, Mellow AM, et al. Clock drawing in Alzheimer's disease. A novel measure of dementia severity. J Am Geriatr Soc. 1989 ; 37 ((8)). 725-729
3. Larner AJ, Doran M. Clinical phenotypic heterogeneity of Alzheimer's disease associated with mutations of the presenilin-1gene. J Neurol. 2006 ; 253 ((2)). 139-158
4. Cruts M, Theuns J, Van Broeckhoven C. Locus-specific mutation databases for neurodegenerative brain diseases. Human Mutation. 2012 ; 33 ((9)). 1340-1344
5. Kowalska A, Forsell C, Florczak J, et al. A Polish pedigree with Alzheimer's disease determined by a novel mutation in exon 12 of the presenilin 1 gene: clinical and molecular characterization. Folia Neuropathol. 1999 ; 37 ((1)). 57-61
6. Gómez-Tortosa E, Barquero S, Barón M, et al. Clinical-genetic correlations in familial Alzheimer's disease caused by presenilin 1 mutations. J Alzheimers Dis. 2010 ; 19 ((3)). 873-884
7. Zekanowski C, Golan MP, Krzys̈ko KA, et al. Two novel presenilin 1 gene mutations connected with frontotemporal dementia-like clinical phenotype: genetic and bioinformatic assessment. Exp Neurol. 2006 ; 200 ((1)). 82-88
8. Robles A, Sobrido MJ, García-Murias M, et al. Clinical picture of a patient with a novel PSEN1 mutation (L424V). Am J Alzheimers Dis Other Demen. 2009 ; 24 ((1)). 40-45
9. Van der Vlies AE, Koedam EL, Pijnenburg YA, Twisk JW, Scheltens P, van der Flier WM. Most rapid cognitive decline in APOE epsilon4 negative Alzheimer's disease with early onset. Psychol Med. 2009 ; 39 ((11)). 1907-1911
10. Vermeiren AP, Bosma H, Visser PJ, et al. The association between APOE ε4 and Alzheimer-type dementia among memory clinic patients is confined to those with a higher education. The DESCRIPA Study. J Alzheimers Dis. 2013 ; 35 ((2)). 241-246
11. Sando SB, Melquist S, Cannon A, et al. APOE epsilon 4 lowers age at onset and is a high risk factor for Alzheimer's disease; a case control study from central Norway. BMC Neurol. 2008 ; 8: 9
12. Jansen JC, Beck JA, Campbell TA, et al. Early onset familial Alzheimer's disease: Mutation frequency in 31 families. Neurology. 2003 ; 60 ((2)). 235-239