Aspartoacylase (ASPA) gene mutations and neuroimaging features in Iranian patients with Canavan disease: a descriptive study.

Abstract excerpt

OBJECTIVE: In this retrospective descriptive study, we aimed to evaluate magnetic resonance imaging (MRI) and magnetic resonance spectroscopy (MRS) findings alongside different ASPA gene mutations in patients to enhance understanding of the genetic backgrounds and to explore correlations between MRI findings and genetic mutations. METHODS: Whole exome sequencing (WES) was used for molecular analysis in seven...

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