Case Report: Two Families With Related Neurodegeneration.

There are recent reports of associations of variants in the gene with a hereditary neurological disease that presents with a wide spectrum of clinical severity, ranging from severe neonatal encephalopathy with no psychomotor development to adolescent-onset uncomplicated spastic paraplegia. Here, we report two probands from unrelated families presenting with severe and intermediate variations of the clinical course. A homozygous variant in the gene was detected in each proband; however, there was no known parental consanguinity.