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DRPLA Pathway

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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 caused by an expansion of a CAG trinucleotide repeat encoding PolyQ (Polyglutamine) in the Atrophin-1 gene, on Chromosome 12 (Ref.1).

Atrophin-1, the DRPLA gene product, encodes a Hydrophilic 1184-amino acid protein with several simple repetitive motifs, including a Serine-rich region, a variable length PolyQ tract, a Polyproline tract, [...]

References:

1.Radiologic and neuropathologic findings in patients in a family with dentatorubral-pallidoluysian atrophy.
Sunami Y, Koide R, Arai N, Yamada M, Mizutani T, Oyanagi K.
AJNR Am J Neuroradiol. 2011 Jan;32(1):109-14. doi: 10.3174/ajnr.A2252. Epub 2010 Oct 21.
2.Pathological accumulation of atrophin-1 in dentatorubralpallidoluysian atrophy.
Suzuki Y, Yazawa I.
Int J Clin Exp Pathol. 2011 Apr;4(4):378-84. Epub 2011 Apr 25. Review.
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