A sporadic case of dentatorubral pallidoluysian atrophy (DRPLA) with CAG repeat expansion but no clinical abnormalities in the father.

Similar Items

• Somatic mosaicism of expanded CAG repeats in brains of patients with dentatorubral-pallidoluysian atrophy: cellular population-dependent dynamics of mitotic instability.
  od: Takano, H., i dr.
  Izdano: (1996)
• Aberrant phosphorylation of dentatorubral-pallidoluysian atrophy (DRPLA) protein complex in brain tissue.
  od: Yazawa, I
  Izdano: (2000)
• The relationship between (CAG)n repeat number and age of onset in a family with dentatorubral-pallidoluysian atrophy (DRPLA): diagnostic implications of confirmatory and predictive testing.
  od: Potter, N T
  Izdano: (1996)
• Dentatorubral-pallidoluysian Atrophy: An Update
  od: Carroll, Liam S., i dr.
  Izdano: (2018)
• Efficacy of perampanel for controlling seizures and improving neurological dysfunction in a patient with dentatorubral-pallidoluysian atrophy (DRPLA)
  od: Shiraishi, Hideaki, i dr.
  Izdano: (2017)