New V272A presenilin 1 mutation with very early onset subcortical dementia and parkinsonism

European Journal of Neurology

Volumn 11, Issue 10, 2004, Pages 663-669

  Jimenez Escrig, A ^a,e   Rabano, A ^b   Guerrero, C ^b   Simon, J ^a   Barquero, M S ^c   Guell I ^d   Ginestal, R C ^a   Montero, T ^a   Orensanz, L ^a  

^a UNIVERSITY OF ALCALÁ   (Spain)

^b HOSPITAL UNIVERSITARIO FUNDACIÓN ALCORCÓN   (Spain)

^c HOSPITAL CLÍNICO SAN CARLOS   (Spain)

^d Clinica Dexeus Barcelona   (Spain)

^e HOSPITAL RAMÓN Y CAJAL   (Spain)

Author keywords

Familial Alzheimer's disease; Lewy bodies; Parkinson's disease; Presenilin

Indexed keywords

DNA; PRESENILIN 1;

ADULT; AGE DISTRIBUTION; ALZHEIMER DISEASE; ARTICLE; BASAL GANGLION; BRAIN CORTEX; CASE REPORT; DEMENTIA; DIAGNOSTIC IMAGING; FEMALE; GENE; GENE MUTATION; GENETIC ANALYSIS; HUMAN; HUMAN CELL; HUMAN TISSUE; LEWY BODY; MISSENSE MUTATION; NEURITIS; NEUROPSYCHOLOGY; NUCLEOTIDE SEQUENCE; ONSET AGE; PARKINSONISM; PATHOLOGICAL ANATOMY; POSITRON EMISSION TOMOGRAPHY; PRIORITY JOURNAL; PSEN1 GENE; SUBSTANTIA NIGRA; SYMPTOMATOLOGY;

ADULT; ALANINE; AMYLOID BETA-PROTEIN; BRAIN; DEMENTIA; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FEMALE; HUMANS; IMMUNOHISTOCHEMISTRY; LEWY BODIES; MAGNETIC RESONANCE IMAGING, CINE; MEMBRANE PROTEINS; MIDDLE AGED; MUTATION, MISSENSE; NERVE TISSUE PROTEINS; NEUROFIBRILLARY TANGLES; NEUROPSYCHOLOGICAL TESTS; PARKINSONIAN DISORDERS; PEPTIDE FRAGMENTS; POSTMORTEM CHANGES; PRESENILIN-1; SYNUCLEINS; VALINE;

EID: 6344248662     PISSN: 13515101     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1468-1331.2004.00865.x     Document Type: Article

References (28)

1. Albert ML, Feldman RG, Willis F (1974). The subcortical dementia of subcortical palsy. J Neurol Neurosurg Psychiatry 37:121-130.
2. Aoki M, Abe K, Oda N et al. (1997). A presenilin-1 mutation in a Japanese family with Alzheimer's disease and distinctive abnormalities on cranial MRI. Neurology 48:1118-1120.
3. Arango D, Cruts M, Torres O et al. (2001). Systematic genetic study of Alzheimer disease in Latin America: mutation frequencies of the amyloid beta precursor protein and presenilin genes in Colombia. Am J Med Genet 103:138-143.
4. Crook R, Ellis R, Shanks M et al. (1997). Early-onset Alzheimer's disease with a presenilin-1 mutation at the site corresponding to the volga german Presenilin-2 mutation. Ann Neurol 42:124-128.
5. Crook R, Verkkoniemi A, Perez-Tur J et al. (1998). A variant of Alzheimer's disease with spastic paraparesis and unusual plaques due to deletion of exon 9 of presenilin 1. Nat Med 4:452-455.
6. Cruts M, Van Broeckhoven C (1998). Presenilin mutations in Alzheimer's disease. Hum Mutat 11:183-190.
7. Cummings JL (1986). Subcortical dementia. Neuropsychological, neuropsychiatry and pathophysiology. Br J Psychiatry 149:682-697.
8. Fox NC, Rossor MN (1999). Diagnosis of early Alzheimer's disease. Revue Neurologie (Paris) 155 (Suppl. 4):S33-S37.
9. Fraser PE, Yang DS, Yu G et al. (2000). Presenilin structure, function and role in Alzheimer disease. Biochim Biophys Acta 1502:1-15.
10. Hardy J, Crook R (2001). Presenilin mutations line up along transmembrane alpha-helices. Neurosci Lett 306:203-205.
11. Hixson JE, Vernier DT (1990). Restriction isotyping of human apolipoprotein E by gene amplification and cleavage with HhaI. J Lipid Res 31:545-548.
12. Houlden H, Crook R, Dolan RJ, McLaughlin J, Revesz T, Hardy J (2001). A novel presenilin mutation (M233V) causing very early onset Alzheimer's disease with Lewy bodies. Neurosci Lett 313:93-95.
13. Jimenez-Escrig, A, Blanco-Jerez CR, Orensanz L (1998). Molecular Biology and Genetics of Alzheimer's disease. Eur J Neurol 2:465-476.
14. Masliah E, Rockenstein E, Veinbergs I et al. (2001). β-Amyloid peptides enhance α-synuclein accumulation and neuronal deficits in a transgenic mouse model linking Alzheimer's disease and Parkinson's disease. Proc Natl Acad Sci U S A 98:12245-12250.
15. Mercken M, Takahashi H, Honda T et al. (1996). Characterization of human presenilin 1 using N-terminal specific monoclonal antibodies: evidence that Alzheimer mutations affect proteolytic processing. FEBS Lett 389:297-303.
16. Minoshima S, Foster NL, Sima AA, Frey KA, Albin RL, Kuhl DE (2001). Alzheimer's disease versus dementia with Lewy bodies: cerebral metabolic distinction with autopsy confirmation. Ann Neurol 50:358-365.
17. Miravalle L, Murell JR, Takao M et al. (2002). Genetic mutations associated with presenile dementia. Neurobiol Aging 23:S322.
18. Perez-Tur J, Froelich S, Prihar G et al. (1995). A mutation in Alzheimer's disease destroying a splice acceptor site in the presenilin-1 gene. Neuroreport 7:297-301.
19. Poorkaj P, Bird TD, Wijsman E et al. (1998). Tau is a candidate gene for chromosome 17 frontotemporal dementia. Ann Neurol 43:815-825.
20. Raux G, Gantier R, Thomas-Anterion C et al. (2000). Dementia with prominent frontotemporal features associated with L113P presenilin 1 mutation. Neurology 55:1577-1578.
21. Revesz T, McLaughlin JL, Rossor MN, Lantos PL (1997). Pathology of familial Alzheimer's disease with Lewy bodies. J Neural Transm 104 (Suppl. 51):121-135.
22. Rogaeva EA, Fafel KC, Song YQ et al. (2001). Screening for PS1 mutations in a referral-based series of AD cases: 21 novel mutations. Neurology 57:621-625.
23. Rohan de Silva HA, Patel AJ (1997). Presenilins and early-onset familial Alzheimer's disease. Neuroreport 8:i-xii.
24. Takao M, Piccardo P, Miravalle L et al. (2002). Neuropathological heterogeneity associated with presenilin 1 gene mutations. Neurobiol Aging 23 (1S): S417.
25. 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.
26. Tysoe C, Whittaker J, Xuereb J et al. (1998). A presenilin-1 truncating mutation is present in two cases with autopsy-confirmed early-onset Alzheimer disease. Am J Hum Genet 62:70-76.
27. Warner JP, Barron LH, Brock DJH (1993). A new polymerase chain reaction (PCR) assay for the trinucleotide repeat that is unstable and expanded on Huntington's disease chromosomes. Mol Cell Probes 7:235-239.
28. Yokota O, Terada S, Ishizu H et al. (2002). NACP/alpha-Synuclein, NAC, and beta-amyloid pathology of familial Alzheimer's disease with the E184D presenilin-1 mutation: a clinicopathological study of two autopsy cases. Acta Neuropathologica (Berlin) 104:637-48.