Hereditary spastic paraplegia type 35 in a Turkish girl with fatty acid hydroxylase-associated neurodegeneration.

Ayşenur Engin ErdalBurak YürekOya Kıreker Köylü Ahmet Cevdet Ceylan Ayşegül Neşe Çıtak KurtÇiğdem Seher Kasapkara

Published in: Journal of pediatric endocrinology & metabolism : JPEM (2024)

neurodegeneration with brain iron accumulation should be ruled out. FA2H/SPG35 disease is characterised by notable clinical and imaging variability, as well as phenotypic diversity.

Keyphrases

fatty acid
high resolution
cerebral palsy
white matter
resting state
botulinum toxin
multiple sclerosis
upper limb
fluorescence imaging
mass spectrometry