Persistent basal ganglia involvement in aminoacylase-1 deficiency: expanding imaging findings and review of literature.

Mohammad Farid Mohammadi Ali Dehghani Kiana Zarabadi Seyyed Mohammad Kahani Setareh SayyadMahmoud Reza AshrafiMorteza Heidari Pouria Mohammadi Masoud Garshasbi Ali Reza Tavasoli

Published in: Irish journal of medical science (2023)

Our findings expanded the phenotype spectrum of ACY1-related neurodegeneration by demonstrating persistent basal ganglia involvement and moderate to severe generalized dystonia.

Keyphrases

early onset
high resolution
deep brain stimulation
high intensity
drug induced
fluorescence imaging