000 03517nam a22004935i 4500
001 978-3-540-26522-1
003 DE-He213
005 20161121230703.0
007 cr nn 008mamaa
008 100301s2005 gw | s |||| 0|eng d
020 _a9783540265221
_9978-3-540-26522-1
024 7 _a10.1007/b137738
_2doi
050 4 _aRC321-580
072 7 _aPSAN
_2bicssc
072 7 _aMED057000
_2bisacsh
082 0 4 _a612.8
_223
245 1 0 _aGenotype — Proteotype — Phenotype Relationships in Neurodegenerative Diseases
_h[electronic resource] /
_cedited by Jeffrey L. Cummings, Michel Poncet, John Hardy, Yves Christen.
264 1 _aBerlin, Heidelberg :
_bSpringer Berlin Heidelberg,
_c2005.
300 _aXIII, 166 p.
_bonline resource.
336 _atext
_btxt
_2rdacontent
337 _acomputer
_bc
_2rdamedia
338 _aonline resource
_bcr
_2rdacarrier
347 _atext file
_bPDF
_2rda
490 1 _aResearch and Perspectives in Alzheimer's Disease,
_x0945-6066
505 0 _aNeurodegenerative Disorders as Proteinopathies: Phenotypic Relationships -- Towards a Molecular Classification of Neurodegenerative Disease -- Racial and Ethnic Influences on the Expression of the Genotype in Neurodegenerative Diseases -- Causes and Consequences of Oxidative Stress in Neurodegenerative Diseases -- Early Onset Familial Alzheimer's Disease: Is a Mutation Predictive of Pathology? -- Identification of Genes that Modify the Age of Onset in a Large Familial Alzheimer's Disease Kindred -- Variable Phenotype of Alzheimer's Disease with Spastic Paraparesis -- Presenilin Mutations: Variations in the Behavioral Phenotype with an Emphasis on the Frontotemporal Dementia Phenotype -- Frontotemporal Dementias: Genotypes and Phenotypes -- Chromosome 17-linked Frontotemporal dementia with Ubiquitin-Positive, Tau-Negative Inclusions -- Variations of the Phenotype in Frontotemporal Dementias -- Phenotype/genotype correlations in Parkinson's disease.
520 _aProtein misfolding and other abnormalities of protein metabolism are increasingly recognized as central mechanisms in the pathophysiology of neurodegenerative disorders. Amyloid beta protein disturbances in Alzheimer’s disease, tau and ubiquitin protein abnormalities in frontotemporal dementias, proteasome and alpha-synuclein disorders in Parkinson’s disease and dementia with Lewy bodies comprise central elements in these common neurodegenerative diseases. Improved understanding of role of protein dysmetabolism in neurodegeneration promises to improve diagnoses, facilitate the development of biological markers relevant to disease pathophysiology, and provide tractable therapeutic targets. This Fondation IPSEN conference summary provides an update on the latest advances of the role of protein misfolding in the pathophysiology of neurodegenerative diseases.
650 0 _aMedicine.
650 0 _aNeurosciences.
650 0 _aNeurology.
650 1 4 _aBiomedicine.
650 2 4 _aNeurosciences.
650 2 4 _aNeurology.
700 1 _aCummings, Jeffrey L.
_eeditor.
700 1 _aPoncet, Michel.
_eeditor.
700 1 _aHardy, John.
_eeditor.
700 1 _aChristen, Yves.
_eeditor.
710 2 _aSpringerLink (Online service)
773 0 _tSpringer eBooks
776 0 8 _iPrinted edition:
_z9783540248354
830 0 _aResearch and Perspectives in Alzheimer's Disease,
_x0945-6066
856 4 0 _uhttp://dx.doi.org/10.1007/b137738
912 _aZDB-2-SBL
950 _aBiomedical and Life Sciences (Springer-11642)
999 _c502457
_d502457