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...

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Bibliographic Details
Published in:Journal of clinical neuroscience 2012-03, Vol.19 (3), p.479-480
Main Authors: Hohler, A.D, Singh, V.J
Format: Article
Language:English
Subjects:
Adrenergic alpha-Agonists - therapeutic use
Aged, 80 and over
Anti-Inflammatory Agents - therapeutic use
Autonomic Nervous System Diseases - drug therapy
Autonomic Nervous System Diseases - genetics
Autonomic Nervous System Diseases - pathology
Brain - pathology
Female
Fludrocortisone - therapeutic use
Hereditary
Humans
Magnetic Resonance Imaging
Midodrine - therapeutic use
MSA–A
Multiple system atrophy
Multiple System Atrophy - drug therapy
Multiple System Atrophy - genetics
Multiple System Atrophy - pathology
Neurologic Examination
Neurology
Parkinsonian Disorders - genetics
Pedigree
Shy–Drager
Sodium Chloride - therapeutic use
Stockings, Compression
United States
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Summary: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.
ISSN:0967-5868
1532-2653
DOI:10.1016/j.jocn.2011.06.018