Brain MRI findings in aspartylglucosaminuria.

Background And Purpose: The aim of this study was to identify characteristic 3.0 T brain MRI findings in patients with aspartylglucosaminuria (AGU), a rare lysosomal storage disorder. Previous AGU patient material imaged at 1.

Hippocampal volumes in juvenile neuronal ceroid lipofuscinosis: a longitudinal magnetic resonance imaging study.

Background: Juvenile neuronal ceroid lipofuscinosis is an inherited, autosomal recessive, progressive, neurodegenerative disorder of childhood. It belongs to the lysosomal storage diseases, which manifest with loss of vision, seizures, and loss of cognitive and motor functions, and lead to premature death. Imaging studies have shown cerebral and cerebellar atrophy, yet no previous studies evaluating particularly hippocampal atrophy have been published.