Alzheimer's Disease and Frontotemporal Dementias

A Review with Particular Reference to Pin1 Protein

 

Home

Pin1 Protein

Our Research

Our TEM Research

Our Publications

Research Team

Alzheimer's Disease

Tauopathies

About this Site

Literature:   A-K ; L-Z ; subject area

Search Site by Subject Area

Disclaimer/ Feedback

Links

Compiled by: Julian Thorpe

 

Down's syndrome (DS)

N.B. This page is in the initial phases of construction, so I suggest you follow the external link below for more on this disease.

(external site links in italics)

See:  National Down Syndrome Society (USA)
Type: Results from the presence of an additional chromosome 21.
Regions affected:   (N.B. the brains of those with DS have all the neuropathological hallmarks of AD by the age of 40).
Tau pathology: Neuronal:  ; Glial   :   ;Neuropil threads :

Some Related References

Anderson, AJ, Stoltzner, S, Lai, F, Su, J and Nixon, RA (2000) Morphological and biochemical assessment of DNA damage and apoptosis in Down syndrome and Alzheimer disease, and effect of postmortem tissue archival on TUNEL. NEUROBIOLOGY OF AGING 21: 511-524

Bajo, M, Yoo, BC, Cairns, N, Gratzer, M, Lubec, G (2001) Neurofilament proteins NF-L, NF-M and NF-H in brain of patients with Down syndrome and Alzheimer's disease. AMINO ACIDS 21: 293-301

Barbiero, L, Benussi, L, Ghidoni, R, Alberici, A, Russo, C, Schettini, G, Pagano, SF, Parati, EA, Mazzoli, F, Nicosia, F, Signorini, S, Feudatari, E, Binetti, G (2003) BACE-2 is overexpressed in Down's syndrome. EXPERIMENTAL NEUROLOGY 182: 335-345

Bimonte-Nelson, HA, Hunter, CL, Nelson, ME, Granholm, ACE (2003) Frontal cortex BDNF levels correlate with working memory in an animal model of Down syndrome. BEHAVIOURAL BRAIN RESEARCH 139: 47-57

Busciglio, J, Pelsman, A, Wong, C, Pigino, G, Yuan, ML, Mori, H, Yankner, BA (2002) Altered metabolism of the amyloid beta precursor protein is associated with mitochondrial dysfunction in Down's syndrome. NEURON 33: 677-688

Cairns, NJ (2001) Molecular neuropathology of transgenic mouse models of Down syndrome. JOURNAL OF NEURAL TRANSMISSION-SUPPLEMENT 61: 289-301

Cataldo, AM, Petanceska, S, Peterhoff, CM, Terio, NB, Epstein, CJ, Villar, A, Carlson, EJ, Staufenbiel, M, Nixon, RA (2003) App gene dosage modulates endosomal abnormalities of Alzheimer's disease in a segmental trisomy 16 mouse model of Down syndrome. JOURNAL OF NEUROSCIENCE 23: 6788-6792  

Cataldo, AM, Petanceska, S, Terio, NB, Peterhoff, CM, Durham, R, Mercken, M, Mehta, PD, Buxbaum, J, Haroutunian, V, Nixon, RA (2004) A beta localization in abnormal endosomes: association with earliest A beta elevations in AD and Down syndrome. NEUROBIOLOGY OF AGING 25: 1263-1272

Cataldo, AM, Peterhoff, CM, Troncosco, JC, Gomez-Isla, T, Hyman, BT and Nixon, RA (2000) Endocytic pathway abnormalities precede amyloid beta deposition in sporadic Alzheimer's disease and Down syndrome - Differential effects of APOE genotype and presenilin mutations. American Journal Of Pathology 157: 277-286

Cheon, MS, Bajo, M, Gulesserian, T, Cairns, N and Lubec, G (2001) Evidence for the relation of herpes simplex virus type 1 to Down syndrome and Alzheimer's disease. ELECTROPHORESIS 22: 445-448

De la Monte_SM. (1999) Molecular abnormalities of the brain in Down Syndrome: relevance to Alzheimer's neurodegeneration.  JOURNAL OF NEURAL TRANSMISSION-SUPPLEMENT, 1999, No.57, pp.1-19

Engidawork, E, Lubec, G (2001) Protein expression in Down syndrome brain. AMINO ACIDS 21: 331-361

Ermak, G, Davies, KJA (2003) DSCR1(Adapt78) - A Janus gene providing stress protection but causing Alzheimer's disease? IUBMB LIFE 55: 29-31

Fuentes JJ, Pritchard MA, Planas AM, Bosch A, Ferrer I, Estivill XA (1995) A New Human Gene From The Down-Syndrome Critical Region Encodes A Proline-Rich Protein Highly Expressed In Fetal Brain And Heart. Hum Mol Genet 4: 1935-1944

Granholm, ACE, Ford, KA, Hyde, LA, Bimonte, HA, Hunter, CL, Nelson, M, Albeck, D, Sanders, LA, Mufson, EJ, Crnic, LS (2002) Estrogen restores cognition and cholinergic phenotype in an animal model of Down syndrome . PHYSIOLOGY & BEHAVIOR 77: 371-385

Greber-Platzer, S, Fleischmann, C, Nussbaumer, C, Cairns, N, Lubec, G (2003) Increased RNA levels of the 25 kDa synaptosomal associated protein in brain samples of adult patients with Down Syndrome. NEUROSCIENCE LETTERS 336: 77-80

Haier, RJ, Alkire, MT, White, NS, Uncapher, MR, Head, E, Lott, IT, Cotman, CW (2003) Temporal cortex hypermetabolism in Down syndrome prior to the onset of dementia. NEUROLOGY 61: 1673-1679

Head, E, Lott, IT, Cribbs, DH, Cotman, CW, Rohn, TT (2002) beta-amyloid deposition and neurofibrillary tangle association with caspase activation in Down syndrome . NEUROSCIENCE LETTERS 330: 99-103

Hill, DA, Gridley, G, Cnattingius, S, Mellemkjaer, L, Linet, M, Adami, HO, Olsen, JH, Nyren, O, Fraumeni, JF (2003) Mortality and cancer incidence among individuals with Down syndrome. ARCHIVES OF INTERNAL MEDICINE 163: 705-711

Hsu, JJ, Chiang, CH, Hsieh, CC, Hsieh, TT (2003) Elevated second-trimester maternal serum inhibin a levels in Asian pregnancies with fetal down syndrome and other chromosomal abnormalities. FETAL DIAGNOSIS AND THERAPY 18: 105-110

Hyde, LA, Frisone, DF and Crnic, LS (2001) Ts65Dn mice, a model for Down syndrome, have deficits in context discrimination learning suggesting impaired hippocampal function. BEHAVIOURAL BRAIN RESEARCH 118: 53-60

Kida, E, Choimiura, NH And Wisniewski, KE (1995) Deposition of apolipoprotein-e and apolipoprotein-j in senile plaques is topographically determined in both alzheimers-disease and downs-syndrome brain. BRAIN RESEARCH 685: 211-216

Kim, SH, Vlkolinsky, R, Cairns, N and Lubec, G (2000) Decreased levels of complex III core protein 1 and complex V beta chain in brains from patients with Alzheimer's disease and Down syndrome. CELLULAR AND MOLECULAR LIFE SCIENCES 57: 1810-1816

Krapfenbauer, K, Yoo, BC, Kim, SH., Cairns, N, Lubec, G (2001) Differential display reveals downregulation of the phospholipid transfer protein (PLTP) at the mRNA level in brains of patients with Down syndrome. LIFE SCIENCES 68: 2169-2179

Lee, JI, Dhakal, BK, Lee, J, Bandyopadhyay, J, Jeong, SY, Eom, SH, Kim, DH, Ahnn, J (2003) The Caenorhabditis elegans homologue of down syndrome critical region 1, RCN-1, inhibits multiple functions of the phosphatase calcineurin. JOURNAL OF MOLECULAR BIOLOGY 328: 147-156

Ma, H, Xiong, H, Liu, T, Zhang, LY, Godzik, A, Zhang, ZH (2004) Aggregate formation and synaptic abnormality induced by DSCR1. JOURNAL OF NEUROCHEMISTRY 88: 1485-1496

Mrak, RE, Griffin, WST (2004) Trisomy 21 and the brain. JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY 63: 679-685

Nunomura, A, Perry, G, Pappolla, MA, Friedland, RP, Hirai, K, Chiba, S and Smith, MA (2000) Neuronal oxidative stress precedes amyloid-beta deposition in Down syndrome. JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY 59: 1011-1017

Pollak, D, Cairns, N, Lubec, G (2003) Cytoskeleton derangement in brain of patients with Down Syndrome, Alzheimer's disease and Pick's disease. JOURNAL OF NEURAL TRANSMISSION-SUPPLEMENT 67: 149-158

Rosner, M, Kowalska, A, Freilinger, A, Prusa, AR, Marton, E, Hengstschlager, M (2003) Cell cycle and cell size regulation in Down Syndrome cells. JOURNAL OF NEURAL TRANSMISSION-SUPPLEMENT 67: 51-58

Sanchez-Font, MF, Bosch-Comas, A, Gonzalez-Duarte, R, Marfany, G (2003) Overexpression of FABP7 in Down syndrome fetal brains is associated with PKNOX1 gene-dosage imbalance. NUCLEIC ACIDS RESEARCH 31: 2769-2777

Sancken, U, Bahner, D (2003) Comparison of triple-risk assessment of fetal trisomy 21 including total human choriogonadotropin (hCG) or its free beta-subunit (Free beta hCG). FETAL DIAGNOSIS AND THERAPY 18: 122-127

Sawa, A (2001) Alteration of gene expression in Down's syndrome (DS) brains: its significance in neurodegeneration. JOURNAL OF NEURAL TRANSMISSION-SUPPLEMENT 61: 361-371

Shim, KS, Ferrando-Miguel, R, Lubec, G (2003) Aberrant protein expression of transcription factors BACH1 and ERG, both encoded on chromosome 21, in brains of patients with Down syndrome and Alzheimer's disease. JOURNAL OF NEURAL TRANSMISSION-SUPPLEMENT 67: 39-49

Shim, KS, Lubec, G (2002) Drebrin, a dendritic spine protein, is manifold decreased in brains of patients with Alzheimer's disease and Down syndrome. NEUROSCIENCE LETTERS 324: 209-212

Su, JH, Kesslak, JP, Head, E, Cotman, CW (2002) Caspase-cleaved amyloid precursor protein and activated caspase-3 are co-localized in the granules of granulovacuolar degeneration in Alzheimer's disease and Down's syndrome brain. ACTA NEUROPATHOLOGICA 104: 1-6

Swatton, JE, Sellers, LA, Faull, RLM, Holland, A, Iritani, S, Bahn, S (2004) Increased MAP kinase activity in Alzheimer's and Down syndrome but not in schizophrenia human brain. EUROPEAN JOURNAL OF NEUROSCIENCE 19: 2711-2719

Wechsler, J, Greene, M, McDevitt, MA, Anastasi, J, Karp, JE, Le Beau, MM, Crispino, JD (2002) Acquired mutations in GATA1 in the megakaryoblastic leukemia of Down syndrome. NATURE GENETICS 32: 148-152

Wolozin, B.; Scicutella, A.; Davies, P. (1988) Reexpression of a developmentally regulated antigen in Down syndrome and Alzheimer disease. Proc. Nat. Acad. Sci. 85: 6202-6206

Wolvetang, EJ, Bradfield, OM, Hatzistavrou, T, Crack, PJ, Busciglio, J, Kola, I, Hertzog, PJ (2003) Overexpression of the chromosome 21 transcription factor Ets2 induces neuronal apoptosis. NEUROBIOLOGY OF DISEASE 14: 349-356

Wolvetang, EW, Bradfield, OM, Tymms, M, Zavarsek, S, Hatzistavrou, T, Kola, I, Hertzog, PJ (2003) The chromosome 21 transcription factor ETS2 transactivates the beta-APP promoter: implications for Down syndrome. BIOCHIMICA ET BIOPHYSICA ACTA-GENE STRUCTURE AND EXPRESSION 1628: 105-110

Wolvetang, EJ, Wilson, TJ, Sanij, E, Busciglio, J, Hatzistavrou, T, Seth, A, Hertzog, PJ, Kola, I (2003) ETS2 overexpression in transgenic models and in Down syndrome predisposes to apoptosis via the p53 pathway. HUMAN MOLECULAR GENETICS 12: 247-255

Yoo, BC, Fountoulakis, M, Dierssen, M, Lubec, G (2001) Expression patterns of chaperone proteins in cerebral cortex of the fetus with Down Syndrome: dysregulation of T-complex protein 1. JOURNAL OF NEURAL TRANSMISSION-SUPPLEMENT 61: 321-334

Yoo, BC, Vlkolinsky, R, Engidawork, E, Cairns, N, Fountoulakis, M and Lubec, G (2001) Differential expression of molecular chaperones in brain of patients with Down syndrome. ELECTROPHORESIS 22: 1233-1241