Disorders with Synuclein Pathology and Parkinsonism Export

@article{citeulike:4221149, abstract = {A variety of neurodegenerative disorders are classified as synucleinopathies based on the presence of prominent α-synuclein pathology. These diseases include Parkinson disease (PD) and dementia with Lewy bodies (with neuronal Lewy body formation) and multiple system atrophy (with glial cytoplasmic inclusions). The normal function of α-synuclein includes regulation of pre-synaptic vesicles. Autosomal dominant PD can be due to coding mutations or multiplications of the α-synuclein gene (SNCA). The coding mutations are thought to lead to a gain of function, in particular acceleration of the formation of proto-fibrils. Duplications and triplications of SNCA lead to autosomal dominant PD with a gene dosage effect on age of onset and clinical severity; variants in the SNCA promoter which lead to an upregulation of SNCA expression are associated with an increased risk of sporadic PD.}, address = {Chichester}, author = {Kilarski, Laura L. and Buchman, Vladimir L. and Morris, Huw R.}, booktitle = {Encyclopedia of Life Sciences}, citeulike-article-id = {4221149}, citeulike-linkout-0 = {http://mrw.interscience.wiley.com/emrw/9780470015902/els/article/a0006031/current/html}, citeulike-linkout-1 = {http://mrw.interscience.wiley.com/emrw/9780470015902/els/article/a0006031/current/abstract}, day = {15}, howpublished = {online}, keywords = {genetics, msa, parkinsons, synuclein}, month = {March}, posted-at = {2009-03-26 07:17:39}, priority = {0}, publisher = {John Wiley \& Sons, Ltd}, title = {Disorders with Synuclein Pathology and Parkinsonism}, url = {http://mrw.interscience.wiley.com/emrw/9780470015902/els/article/a0006031/current/html}, year = {2009} }

TY - JOUR ID - citeulike:4221149 L3 - citeulike-article-id:4221149 N2 - A variety of neurodegenerative disorders are classified as synucleinopathies based on the presence of prominent α-synuclein pathology. These diseases include Parkinson disease (PD) and dementia with Lewy bodies (with neuronal Lewy body formation) and multiple system atrophy (with glial cytoplasmic inclusions). The normal function of α-synuclein includes regulation of pre-synaptic vesicles. Autosomal dominant PD can be due to coding mutations or multiplications of the α-synuclein gene (SNCA). The coding mutations are thought to lead to a gain of function, in particular acceleration of the formation of proto-fibrils. Duplications and triplications of SNCA lead to autosomal dominant PD with a gene dosage effect on age of onset and clinical severity; variants in the SNCA promoter which lead to an upregulation of SNCA expression are associated with an increased risk of sporadic PD. AD - Chichester TI - Disorders with Synuclein Pathology and Parkinsonism PB - John Wiley & Sons, Ltd T2 - Encyclopedia of Life Sciences KW - genetics KW - msa KW - parkinsons KW - synuclein AU - Kilarski, Laura AU - Buchman, Vladimir AU - Morris, Huw PY - 2009/03/15/ UR - http://mrw.interscience.wiley.com/emrw/9780470015902/els/article/a0006031/current/html ER -