title: Probable hereditary multiple system atrophy-autonomic (MSA-A) in a family in the United States.
abstract: Multiple system atrophy-autonomic (MSA-A) is a typically spontaneous neurological disorder. The disease, distinguished by a "hot cross bun" sign on MRI, causes a series of autonomic dysfunctions including orthostatic hypotension and genitourinary and gastrointestinal problems. We present an 84 year-old woman with MSA-A symptoms who was positive for a "hot cross bun" sign. Genetic testing was used to rule out other possible ataxias. Importantly, the patient's two sisters also presented with similar symptoms indicating a possible autosomal dominant linkage. To our knowledge, this is the first report of hereditary MSA-A in the USA.
authors.affiliation: Department of Neurology, Boston University School of Medicine, Boston, MA 02118, USA. hohlera@hotmail.com
authors.forename: A D
authors.initials: AD
authors.lastname: Hohler
authors.forename: V J
authors.initials: VJ
authors.lastname: Singh
mesh_terms: D000316:Adrenergic alpha-Agonists / Q000627:therapeutic use; D000369:Aged, 80 and over; D000893:Anti-Inflammatory Agents / Q000627:therapeutic use; D001342:Autonomic Nervous System Diseases / Q000188:drug therapy / Q000235:genetics* / Q000473:pathology; D001921:Brain / Q000473:pathology; D005260:Female; D005438:Fludrocortisone / Q000627:therapeutic use; D006801:Humans; D008279:Magnetic Resonance Imaging; D008879:Midodrine / Q000627:therapeutic use; D019578:Multiple System Atrophy / Q000188:drug therapy / Q000235:genetics* / Q000473:pathology; D009460:Neurologic Examination; D020734:Parkinsonian Disorders / Q000235:genetics; D010375:Pedigree; D012965:Sodium Chloride / Q000627:therapeutic use; D053828:Stockings, Compression; D014481:United States
chemical_list: D000316:Adrenergic alpha-Agonists; D000893:Anti-Inflammatory Agents; D012965:Sodium Chloride; D008879:Midodrine; D005438:Fludrocortisone