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Genotype-phenotype correlations and expansion of the molecular spectrum of AP4M1-related hereditary spastic paraplegia.

Conceicao BettencourtVincenzo SalpietroStephanie EfthymiouViorica ChelbanDeborah HughesAlan M PittmanMonica FederoffThomas BourinarisMartha SpiliotiGeorgia DeretziTriantafyllia KalantzakouHenry HouldenAndrew B SingletonGeorgia Xiromerisiou
Published in: Orphanet journal of rare diseases (2017)
We review genotype-phenotype correlations and discuss clinical overlaps between different AP4-related diseases. The AP4M1 belongs to a complex that mediates vesicle trafficking of glutamate receptors, being likely involved in brain development and neurotransmission.
Keyphrases
  • transcription factor
  • multiple sclerosis
  • resting state
  • cerebral palsy
  • single molecule
  • subarachnoid hemorrhage
  • botulinum toxin