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