Ondine's Curse in Frontotemporal Dementia with Parkinsonism Linked to Chromosome 17 Caused by MAPT Variants

Background: Ondine's curse or central hypoventilation, induces an apparently spontaneous failure of automatic respiratory drive, henceforth necessitating a conscious effort to breathe and sleep induced hypoventilation. It is typically seen in congenital central hypoventilation syndrome, but may be acquired. Objectives: To highlight Ondine's curse as part of frontotemporal dementia with parkinsonism linked to chromosome 17 (FTDP-17) secondary to microtubule associated protein tau (MAPT) variants. Methods: We describe the clinical and neuropathological findings in two patients with fatal Ondine's curse associated with FTDP-17 and secondary to MAPT variants (FTDP-17t). We discuss neuroanatomical correlates. We review two prior reports of central hypoventilation associated with MAPT variants suggesting that Ondine's curse occurs uncommonly in FTDP-17t. Results: Despite variants affecting different regions of MAPT and a degree of heterogeneity in pathological findings, the patients reviewed all experienced central hypoventilation during their disease course. Conclusion: Tauopathy should be considered in patients with adult-onset Ondine's curse.

Automated summary

Ondine's curse is a rare condition causing failure of automatic respiratory drive, sometimes associated with FTDP-17t. Despite variants affecting different regions of MAPT, patients experienced central hypoventilation during their disease course.