Pathways
DRPLA Pathway
Description:
DRPLA (Dentatorubropallidoluysian Atrophy) is a Rare Neurodegenerative Disorder that usually is inherited in an Autosomal Dominant pattern. The Clinical symptoms are variable depending on the age of onset of the disease Myoclonus, Epilepsy, and Mental Retardation are the main symptoms in Juvenile Onset, whereas Cerebellar Ataxia, Choreoathetosis, and Dementia are seen in Adult Onset. Neuropathologically, a combined degeneration of the Dentatorubral and Pallidoluysian systems is a characteristic feature of DRPLA. The disease is c...
References:
-
Radiologic and neuropathologic findings in patients in a family with dentatorubral-pallidoluysian atrophy.
AJNR Am J Neuroradiol. 2011 Jan;32(1):109-14. doi: 10.3174/ajnr.A2252. Epub 2010 Oct 21. -
Pathological accumulation of atrophin-1 in dentatorubralpallidoluysian atrophy.
Int J Clin Exp Pathol. 2011 Apr;4(4):378-84. Epub 2011 Apr 25. Review. -
Proteolytic processing regulates pathological accumulation in dentatorubral-pallidoluysian atrophy.
FEBS J. 2010 Dec;277(23):4873-87. doi: 10.1111/j.1742-4658.2010.07893.x. Epub 2010 Oct 26. -
Neurodegeneration by polyglutamine Atrophin is not rescued by induction of autophagy.
Cell Death Differ. 2010 Oct;17(10):1577-87. doi: 10.1038/cdd.2010.31. Epub 2010 Mar 26.
You can view details of this pathway by subscribing:
9853 Pacific Heights Blvd.
Suite D., San Diego, CA 92121, USA
Tel: 858-224-2869
Fax: 858-205-1192
info@proteinlounge.com
Databases
Tools
Institutional License
Need our databases and tools to be availed by your whole university or institute? We recommend signing up for our Site License.
To set up a license, please contact: info@proteinlounge.com
Copyright © Protein Lounge Inc.
Terms & Conditions