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Cerebellum and Ataxias

, 1:14

First Online: 10 October 2014Received: 26 June 2014Accepted: 24 July 2014


Multiple system atrophy is a rare and fatal neurodegenerative disorder characterized by progressive autonomic failure, ataxia and parkinsonism in any combination. The clinical manifestations reflect central autonomic and striatonigral degeneration as well as olivopontocerebellar atrophy. Glial cytoplasmic inclusions, composed of α-synuclein and other proteins are considered the cellular hallmark lesion. The cerebellar variant of MSA MSA-C denotes a distinctive motor subtype characterized by progressive adult onset sporadic gait ataxia, scanning dysarthria, limb ataxia and cerebellar oculomotor dysfunction. In addition, there is autonomic failure and variable degrees of parkinsonism. A range of other disorders may present with MSA-C like features and therefore the differential diagnosis of MSA-C is not always straightforward. Here we review key aspects of MSA-C including pathology, pathogenesis, diagnosis, clinical features and treatment, paying special attention to differential diagnosis in late onset sporadic cerebellar ataxias.

KeywordsMultiple system atrophy Cerebellar type Idiopathic late onset cerebellar ataxia Sporadic adult onset ataxia AbbreviationsADLActivities of daily living

CSFCerebrospinal fluid

DARPP-32Dopamine and c-AMP-regulated phosphoprotein-32

DWIDiffusion weighted imaging

DTIDiffusion tensor imaging


FMR1Fragile-X mental retardation 1

FXTASFragile X related tremor and ataxia syndrome

GCIsGlial cytoplasmic inclusions

GHGrowth hormone

ILOCAIdiopathic late onset cerebellar ataxia



MSAMultiple system atrophy

MSA-CCerebellar type MSA

MSA-PParkinsonian type MSA

MSCMesenchymal stem cells

NCIsNeuronal cytoplasmic inclusions

NFLNeurofilament light chain

NNIsNeuronal nuclear inclusions

OPCAOlivopontocerebellar atrophy

RBDREM sleep behavior disorder

SAOASporadic adult onset ataxia

SCAsSpinocerebellar ataxias

SNDStriatonigral degeneration

SNPsSingle nucleotide polymorphisms


TLRsToll-like receptors

UMSARSUnified MSA Rating Scale

Electronic supplementary materialThe online version of this article doi:10.1186-s40673-014-0014-7 contains supplementary material, which is available to authorized users.

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Autor: Ludovico Ciolli - Florian Krismer - Ferdinando Nicoletti - Gregor K Wenning


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