title: Familial parkinsonism, apathy, weight loss, and central hypoventilation: successful long-term management.
abstract: We report a third family with six members with features of the syndrome of familial parkinsonism, depression, weight loss, and central hypoventilation. Patients with this syndrome typically die suddenly, presumably from central respiratory failure. Following multiple respiratory arrests, one affected member was successfully managed with aggressive pulmonary care, tracheostomy, and intermittent home mechanical ventilation, which, combined with carbidopa/levodopa, allowed for a functional lifestyle with improvement in apathy, mobility, and nutritional status.
authors.affiliation: Department of Neurology, West Virginia University School of Medicine, Morgantown 26506.
authors.forename: E P
authors.initials: EP
authors.lastname: Roy
authors.forename: J E
authors.initials: JE
authors.lastname: Riggs
authors.forename: J D
authors.initials: JD
authors.lastname: Martin
authors.forename: R A
authors.initials: RA
authors.lastname: Ringel
authors.forename: L
authors.initials: L
authors.lastname: Gutmann
mesh_terms: D001835:Body Weight; D003863:Depression / Q000235:genetics*; D005260:Female; D006801:Humans; D007040:Hypoventilation / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D010300:Parkinson Disease / Q000235:genetics*