Laura Williams1, Diana A Olszewska1, Conor Fearon1, Brian Magennis1, Allan McCarthy2, Lewis P Rowland3, Richard Mayeux3, Rory Page4, Stanley Fahn3, Alan Beausang5, Tim Lynch1,6. 1. Dublin Neurological Institute, Mater Misericordiae University Hospital Dublin Ireland. 2. Tallaght University Hospital Dublin Ireland. 3. Department of Neurology Columbia University Irving Medical Center New York New York USA. 4. Department of Anaesthesia Cavan General Hospital Cavan Ireland. 5. Department of Neuropathology Beaumont Hospital Dublin Ireland. 6. UCD School of Medicine University College Dublin Ireland.
Abstract
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.
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.
Keywords:
Ondine's curse; central hypoventilation; frontotemporal dementia with parkinsonism linked to chromosome 17 (FTDP‐17); frontotemporal lobar degeneration (FTLD); microtubule associated protein tau (MAPT)
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