Prominent behavioural and psychiatric symptoms in early-onset Alzheimer's disease in a sib pair with the presenilin-1 gene R269G mutation

European Archives of Psychiatry and Clinical Neuroscience

Volumn 254, Issue 3, 2004, Pages 187-189

  Doran, M ^a   Larner, A J ^a  

^a WALTON CENTRE FOR NEUROLOGY AND NEUROSURGERY   (United Kingdom)

Author keywords

Alzheimer's disease; Dementia; Presenilin 1 gene mutation

Indexed keywords

PRESENILIN 1; ARGININE; GLYCINE; MEMBRANE PROTEIN; PSEN1 PROTEIN, HUMAN;

ADULT; ALZHEIMER DISEASE; ARTICLE; BEHAVIOR DISORDER; CASE REPORT; COGNITION; EPIGENETICS; FEMALE; GENE; GENE MUTATION; GENETIC CORRELATION; GENOTYPE; HUMAN; MALE; MENTAL DISEASE; PATHOGENESIS; PHENOTYPE; PRESENILIN 1 GENE; PRIORITY JOURNAL; FAMILY HEALTH; GENETICS; MIDDLE AGED; MUTATION; NUCLEOTIDE SEQUENCE;

ALZHEIMER DISEASE; ARGININE; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FEMALE; GLYCINE; HUMANS; MALE; MEMBRANE PROTEINS; MIDDLE AGED; MUTATION; PRESENILIN-1;

EID: 4243061848     PISSN: 09401334     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00406-004-0467-4     Document Type: Article

References (19)

1. Ballard CG, O'Brien J, James I, Swann A (2001) Dementia: management of behavioural and psychological symptoms, OUP, Oxford
2. Cohen-Mansfield J, Billig N (1986) Agitated behaviors in the elderly. I. A conceptual review. J Am Geriatr Soc 34:711-721
3. Doran M, Vinjamuri S, Collins J, Parker D, Larner AJ (2003) SPECT perfusion imaging in the differential diagnosis of presenile dementia: a retrospective regional audit. J Neurol Neurosurg Psychiatry 74:1177
4. Folstein MF, Bylsma FW (1994) Noncognitive symptoms of Alzheimer disease, In: Terry RD, Katzman R, Bick KL (eds) Alzheimer disease. Raven Press, New York, pp. 27-40
5. Fox NC, Kennedy AM, Harvey RJ et al. (1997) Clinicopathological features of familial Alzheimer's disease associated with the M139V mutation in the presenilin 1 gene. Pedigree but not mutation specific age at onset provides evidence for a further genetic factor. Brain 120:491-501
6. Golding E (1989) The Middlesex Elderly Assessment of Mental State. Bury St Edmunds, Thames Valley Test Company
7. Goldman JS, Reed B, Gearhart R, Kramer JH, Miller BL (2002) Very early-onset familial Alzheimer's disease: a novel presenilin 1 mutation. Int J Geriatr Psychiatry 17:649-651
8. Gómez-Isla T, Growdon WB, McNamara MJ et al. (1999) The impact of different presenilin 1 and presenilin 2 mutations on amyloid deposition, neurofibrillary changes and neuronal loss in the familial Alzheimer's disease brain: evidence for other phenotype-modifying factors. Brain 122:1709-1719
9. Gomez-Isla T, Wasco W, Pettingell WP et al. (1997) A novel presenilin-1 mutation: increased β-amyloid and neurofibrillary changes. Ann Neurol 41:809-813
10. Harvey RJ, Ellison D, Hardy J et al. (1998) Chromosome 14 familial Alzheimer's disease: the clinical and neuropathological characteristics of a family with a leucine serine (L250S) substitution at codon 250 of the presenilin 1 gene. J Neurol Neurosurg Psychiatry 64:44-49
11. Larner AJ, du Plessis DG (2003) Early-onset Alzheimer's disease with presenilin-1 M139V mutation: clinical, neuropsychological and neuropathological study. Eur J Neurol 10:319-323
12. nd edn). Arnold, London, pp. 61-79
13. nd edn) NFER-Nelson, Windsor, UK
14. Perez-Tur J, Croxton R, Wright K et al. (1996) A further presenilin 1 mutation in the exon 8 cluster in familial Alzheimer's disease. Neurodegeneration 5:207-212
15. Queralt R, Ezquerra M, Lleó A et al. (2002) 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 72:266-269
16. Raux G, Gantier R, Thomas-Anterion C et al. (2000) Dementia with prominent frontotemporal features associated with the L113P presenilin 1 mutation. Neurology 55:1577-1578
17. Robert P (2002) Understanding and managing behavioural symptoms in Alzheimer's disease and related dementias: focus on rivastigmine. Curr Med Res Opin 18:156-171
18. Rossor MN, Fox NC, Beck J, Campbell TC, Collinge J (1996) Incomplete penetrance of familial Alzheimer's disease in a pedigree with a novel presenilin-1 gene mutation. Lancet 347:1560
19. Tedde A, Forleo P, Nacmias B et al. (2000) A presenilin-1 mutation (Leu392Pro) in a familial AD kindred with psychiatric symptoms at onset. Neurology 55:1590-1591