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DRPLA Pathway

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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 [...]


1.A case of dentatorubral-pallidoluysian atrophy with onset of psychomotor retardation in infancy
Kanayama M, Tsukamoto H, Miyachi T, Hamaguchi T, Fujimoto S, Ishikawa T, Togari H.
No To Hattatsu. 2004 Sep;36(5):407-12.
2.Dentatorubral-pallidoluysian atrophy in three generations, with clinical courses from nearly asymptomatic elderly to severe juvenile, in an Australian family of Macedonian descent.
Vinton A, Fahey MC, O'brien TJ, Shaw J, Storey E, McKinlay Gardner RJ, Mitchell PJ, Du Sart D, King JO.
Am J Med Genet A. 2005 Jun 9;136A(2):201-204
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