Familial Alzheimer's disease with presenilin 2 N141I mutation: A case report;Familiäre Alzheimer-demenz mit präsenilin 2 N141I mutation: Eine klinische falldarstellung

Fortschritte der Neurologie Psychiatrie

Volumn 76, Issue 10, 2008, Pages 606-609

  Nikisch, Georg ^a   Wiedemann, G ^a   Klessling B ^a   Hertel, A ^a  

^a KLINIKUM FULDA   (Germany)

Author keywords

Case report; Familial Alzheimer's disease; N141I; Presenilin 2 mutation

Indexed keywords

FLUORODEOXYGLUCOSE F 18; PRESENILIN 1; PRESENILIN 2;

ADULT; ALZHEIMER DISEASE; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CASE REPORT; FEMALE; GENE MUTATION; HUMAN; MINI MENTAL STATE EXAMINATION; POSITRON EMISSION TOMOGRAPHY;

ADULT; ALZHEIMER DISEASE; ANTIDEPRESSIVE AGENTS, SECOND-GENERATION; BRAIN; CITALOPRAM; CODON; ELECTROENCEPHALOGRAPHY; FEMALE; FLUORODEOXYGLUCOSE F18; HUMANS; INDANS; MUTATION, MISSENSE; NEUROPSYCHOLOGICAL TESTS; NOOTROPIC AGENTS; PEDIGREE; PIPERIDINES; POSITRON-EMISSION TOMOGRAPHY; PRESENILIN-2; RADIOPHARMACEUTICALS;

EID: 55749089600     PISSN: 07204299     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-2008-1038246     Document Type: Article

References (12)

1. Dilling H, Mombour W, Schmidt MH. Weltgesundheitsorganisation: Internationale Klassifikation psychischer Störungen. ICD-10 Kap V. Bern: Huber, 1994
2. Zaudig M. Demenz und "leichte kognitive Beeinträ chtigung" im Alter. In: Zaudig M (Hrsg). Diagnostik, Früherkennung und Therapie. Bern: Huber, 1995: 37
3. Thomas P, Fenech M. A review of genome mutation and Alzheimer's disease. Mutagenesis 2007; 22: 15-33
4. Müller U, Riemenschneider M, Kurz A. Alzheimer-Krankheit: Molekulare Diagnostik und genetische Beratung. Medizinische Genetik 2004; 16: 316-320
5. Morris JC, Heymann A, Mohs RC et al. The Consortium to Establish a Registry for Alzheimer's Disease (CERAD). Part 1. Clinical and neuropsychological assessment of Alzheimer's disease. Neurology 1989; 39: 1159-1161
6. 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: 189-198
7. Campion D, Dumanchin C, Hannequin D et al. Early onset autosomal dominant Alzheimer disease: prevalence, genetic heterogeneity, and mutation spectrum. Am J Hum Genet 1999; 65: 664-670
8. Cruts M, Rademakers R. Alzheimer disease & frontotemporal dementia mutation database.http://www.molgen.ua.ac.be/ADMutations/
9. Levy-Lahad E, Wasco W, Poorkaj P et al. Candidate gene for the chromosome 1 familial Alzheimer's disease locus. Science 1995; 269: 973-977
10. Hampel H, Teipel SJ. Total and phosphorylated tau proteins: evaluation as core biomarker candidates in frontotemporal dementia. Dement Geriatr Cogn Disord 2004; 17: 350-354
11. Gary W, Small L, Ercoli D et al. Cerebral metabolic and cognitive decline in persons at genetic risk for Alzheimer's disease. Proc Nat Ac Sci 2000; 97: 6037-6042
12. Haupt M, Rosenfeld S, Stoppe G. Die ambulante Versorgung von Patienten mit Alzheimer Demenz: Eine exploratorische Studie zum ärztlichen Verordnungsverhalten. MMW Fortschr Med 2004; 146: 51-56