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2018 ; 211
(ä): 15-25
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Diagnosis of multiple system atrophy
#MMPMID29111419
Palma JA
; Norcliffe-Kaufmann L
; Kaufmann H
Auton Neurosci
2018[May]; 211
(ä): 15-25
PMID29111419
show ga
Multiple system atrophy (MSA) may be difficult to distinguish clinically from
other disorders, particularly in the early stages of the disease. An
autonomic-only presentation can be indistinguishable from pure autonomic failure.
Patients presenting with parkinsonism may be misdiagnosed as having Parkinson
disease. Patients presenting with the cerebellar phenotype of MSA can mimic other
adult-onset ataxias due to alcohol, chemotherapeutic agents, lead, lithium, and
toluene, or vitamin E deficiency, as well as paraneoplastic, autoimmune, or
genetic ataxias. A careful medical history and meticulous neurological
examination remain the cornerstone for the accurate diagnosis of MSA. Ancillary
investigations are helpful to support the diagnosis, rule out potential mimics,
and define therapeutic strategies. This review summarizes diagnostic
investigations useful in the differential diagnosis of patients with suspected
MSA. Currently used techniques include structural and functional brain imaging,
cardiac sympathetic imaging, cardiovascular autonomic testing, olfactory testing,
sleep study, urological evaluation, and dysphagia and cognitive assessments.
Despite advances in the diagnostic tools for MSA in recent years and the
availability of consensus criteria for clinical diagnosis, the diagnostic
accuracy of MSA remains sub-optimal. As other diagnostic tools emerge, including
skin biopsy, retinal biomarkers, blood and cerebrospinal fluid biomarkers, and
advanced genetic testing, a more accurate and earlier recognition of MSA should
be possible, even in the prodromal stages. This has important implications as
misdiagnosis can result in inappropriate treatment, patient and family distress,
and erroneous eligibility for clinical trials of disease-modifying drugs.
|Ataxia/*diagnosis/physiopathology
[MESH]
|Autonomic Nervous System/*physiopathology
[MESH]
|Diagnosis, Differential
[MESH]
|Humans
[MESH]
|Multiple System Atrophy/*diagnosis/therapy
[MESH]