|Title||Case Report: Two Families With Related Neurodegeneration.|
|Publication Type||Journal Article|
|Year of Publication||2022|
|Authors||Micule, I, Lace, B, Wright, NT, Chrestian, N, Strautmanis, J, Diriks, M, Stavusis, J, Kidere, D, Kleina, E, Zdanovica, A, Laflamme, N, Rioux, N, Setty, SThonta, Pajusalu, S, Droit, A, Lek, M, Rivest, S, Inashkina, I|
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. We also highlight reductions in citrate synthase and mitochondrial complex I activity detected in both probands in different tissues, reflecting the previously proposed mitochondrial nature of disease pathogenesis associated with mutations. Further, we speculate on the functional consequences of the detected variants, although the function and substrate of the HPDL enzyme are currently unknown.
|Alternate Journal||Front Genet|
|PubMed Central ID||PMC8864118|