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

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 Iranian patients with clinical diagnosis of Canavan disease. MRI and MRS findings were assessed in these patients. Clinical data, biochemical findings, detailed anatomical MRI involvement, and metabolites in MRS were evaluated. The full spectrum of brain abnormalities on conventional MRI and MRS, as well as clinical outcomes were compared with molecular data to provide insights into the neuroimaging and molecular findings in these patients.

RESULTS

WES identified pathogenic or likely pathogenic variants in the ASPA gene in the majority of cases. MRI revealed involvement of deep and subcortical white matter, along with the globus pallidus in all cases. Yet, the putamen, caudate, and claustrum were not involved. MRS analysis demonstrated a typical N-acetylaspartate (NAA) peak with increased NAA/Creatine and NAA/Choline ratios.

CONCLUSION

Taken together, this study enhances our understanding of the genetic background of Canavan disease among the Iranian population. We propose functional assays or cohort studies for unresolved classifications.