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 XiromerisiouPublished 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.