Markedly asymmetric presentation in multiple system atrophy

Batla, Amit; Stamelou, María; Menšíková, Kateřina; Kaiserová, Michaela; Tučková, Lucie; Kaňovský, Petr; Quinn, Niall; Bhatia, Kailash P.

doi:10.1016/j.parkreldis.2013.05.004

Cited by 23 publications

(22 citation statements)

References 9 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Most patients have a bilateral rigid-akinetic form but the parkinsonism can occasionally be markedly asymmetric (Batla et al, 2013; Tison et al, 2002). A quivery voice is characteristic.…”

Section: Clinical Evaluationmentioning

confidence: 99%

Diagnosis of multiple system atrophy

Palma

Norcliffe‐Kaufmann

Kaufmann

2018

Autonomic Neuroscience

126

114

View full text Add to dashboard Cite

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.

show abstract

“…Most patients have a bilateral rigid-akinetic form but the parkinsonism can occasionally be markedly asymmetric (Batla et al, 2013; Tison et al, 2002). A quivery voice is characteristic.…”

Section: Clinical Evaluationmentioning

confidence: 99%

Diagnosis of multiple system atrophy

Palma

Norcliffe‐Kaufmann

Kaufmann

2018

Autonomic Neuroscience

126

114

View full text Add to dashboard Cite

show abstract

“…53 Classic asymmetric pill-rolling tremor is not often seen in MSA, although it can occur. Usually MSA patients have a jerky poly-minimyoclonus, which has been suggested to be cortical in origin.…”

Section: Clinical Featuresmentioning

confidence: 99%

“…Usually MSA patients have a jerky poly-minimyoclonus, which has been suggested to be cortical in origin. 53,54 Focal dystonia of the neck muscles also occurs in MSA, but usually in the form of a mixed antecollis/laterocollis, which can be fixed and painful. MSA can also present with focal dystonia of the vocal cords or a segmental dystonia of trunk muscles, causing lateroflexion (Pisa sign) or anteroflexion (camptocormia) of the trunk.…”

Section: Clinical Featuresmentioning

confidence: 99%

See 1 more Smart Citation

Atypical Parkinsonism

Stamelou

Bhatia

2015

Neurologic Clinics

Self Cite

View full text Add to dashboard Cite

“…Nonetheless, the classical AP phenotypes have been delineated, and physicians are now familiar with such clinical templates, using them routinely for the diagnosis of these disorders. However, there is increasing evidence that: I) APs can clinically overlap [2,3]; II) some patients with a pathological diagnosis for a certain AP have "atypical" clinical presentations [2][3][4][5]; and III) a number of newly discovered genetic conditions might share some clinical features with the "classical APs"…”

Section: Introductionmentioning

confidence: 99%

“Atypical” atypical parkinsonism: Critical appraisal of a cohort

Hirschbichler

Erro

Ganos

et al. 2017

Parkinsonism & Related Disorders

Self Cite

View full text Add to dashboard Cite

Background: Atypical parkinsonian conditions such as multiple system atrophy (MSA), progressive supranuclear palsy (PSP), corticobasal syndrome (CBS) and Dementia with Lewy bodies (DLB) comprise 10-15% of parkinsonian syndromes. Misdiagnosis with Parkinson disease (PD) and within the entities is common, given the absence of reliable biomarkers.However a correct diagnosis is not only important in clinical practice, but also crucial for any trial attempting to identify biomarkers or new treatments. Methods:Consecutive patients, who were either referred with a diagnosis of a particular AP by a neurologist, or where a movement disorder specialist at Queen Square considered such a diagnosis, were included and the medical records were reviewed retrospectively. We applied each set of current diagnostic research criteria to the respective cohort to see which features fit in and if there are atypical features "outside" the classic definition. Results:Sixty-nine patients were recruited clinically presenting with one of the following phenotypes: 14 MSA, 24 PSP, 19 CBS and 12 DLB. Up to 49% showed additional "atypical"features and approximately 10% eventually received an alternative diagnosis, in half of whom this was based on genetic testing. Conclusions:In a subset of our patients, despite the final diagnosis of an AP being maintained, there were additional "atypical" features. It remains to be seen if these reflect the clinical heterogeneity of APs, or should prompt a search for an alternative diagnosis. A change in terminology using phenotypic descriptors (e.g. MSA syndrome) rather than aetiological labels, as already applied for CBS, could therefore be a consideration for all the APs.

show abstract

Markedly asymmetric presentation in multiple system atrophy

Cited by 23 publications

References 9 publications

Diagnosis of multiple system atrophy

Diagnosis of multiple system atrophy

Atypical Parkinsonism

“Atypical” atypical parkinsonism: Critical appraisal of a cohort

Contact Info

Product

Resources

About