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

Gelijkaardige items

• Somatic mosaicism of expanded CAG repeats in brains of patients with dentatorubral-pallidoluysian atrophy: cellular population-dependent dynamics of mitotic instability.
  door: Takano, H., et al.
  Gepubliceerd in: (1996)
• Aberrant phosphorylation of dentatorubral-pallidoluysian atrophy (DRPLA) protein complex in brain tissue.
  door: Yazawa, I
  Gepubliceerd in: (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.
  door: Potter, N T
  Gepubliceerd in: (1996)
• Dentatorubral-pallidoluysian Atrophy: An Update
  door: Carroll, Liam S., et al.
  Gepubliceerd in: (2018)
• Efficacy of perampanel for controlling seizures and improving neurological dysfunction in a patient with dentatorubral-pallidoluysian atrophy (DRPLA)
  door: Shiraishi, Hideaki, et al.
  Gepubliceerd in: (2017)