title: Pathological description of a non-motor variant of multiple system atrophy.
abstract: Multiple system atrophy (MSA) is a neurodegenerative disorder that usually presents clinically as a combination of parkinsonism, cerebellar syndrome and autonomic failure. Patients with MSA can present other clinical features, such as inspiratory stridor and rapid eye movement (REM) sleep behaviour disorder (RBD). We report a patient with pathologically confirmed MSA who presented with a longstanding history of stridor, RBD and autonomic disturbances but did not develop overt parkinsonism or cerebellar signs. This case illustrates that MSA may present clinically without its cardinal motor symptoms, and that stridor and RBD may be clues to recognise the disease in a patient with autonomic failure.
authors.affiliation: Neurology Service, Hospital Clinic de Barcelona, C/Villarroel 170, Barcelona 08036, Spain.
authors.forename: C
authors.initials: C
authors.lastname: Gaig
authors.forename: A
authors.initials: A
authors.lastname: Iranzo
authors.forename: E
authors.initials: E
authors.lastname: Tolosa
authors.forename: I
authors.initials: I
authors.lastname: Vilaseca
authors.forename: M J
authors.initials: MJ
authors.lastname: Rey
authors.forename: J
authors.initials: J
authors.lastname: Santamaria
mesh_terms: D001921:Brain / Q000473:pathology; D002531:Cerebellum / Q000473:pathology; D003593:Cytoplasm / Q000378:metabolism; D003937:Diagnosis, Differential; D006801:Humans; D008297:Male; D008875:Middle Aged; D019578:Multiple System Atrophy / Q000235:genetics* / Q000473:pathology*; D019636:Neurodegenerative Diseases / Q000235:genetics; D009462:Neurology / Q000379:methods; D010300:Parkinson Disease / Q000473:pathology; D054970:Pure Autonomic Failure / Q000175:diagnosis; D012890:Sleep; D012893:Sleep Wake Disorders / Q000473:pathology; D014827:Vocal Cords / Q000473:pathology