Case Report: Two Families With Related Neurodegeneration.

TitleCase Report: Two Families With Related Neurodegeneration.
Publication TypeJournal Article
Year of Publication2022
AuteursMicule, 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
JournalFront Genet
Date Published2022

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 JournalFront Genet
PubMed ID35222531
PubMed Central IDPMC8864118