Multiple system atrophy: an update

Stefanova, Nadia; Bücke, Philipp; Duerr, Susanne; Wenning, Gregor K.

doi:10.1016/s1474-4422(09)70288-1

Cited by 342 publications

(304 citation statements)

References 60 publications

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“…Pathologically is characterized by cell loss, gliosis and glial cytoplasmatic inclusions in several brain and spinal cords structures 22 . When cerebellar ataxia is the dominant clinical feature, the disease is termed MSA-C.…”

Section: Sleep Disorders In Sporadic Ataxiasmentioning

confidence: 99%

“…When cerebellar ataxia is the dominant clinical feature, the disease is termed MSA-C. The signs of cerebellar dysfunction include disorders of extraocular movements, ataxia of speech, ataxia of limbs movements and gait 22 . MSA patients have multiple sleep-related disorder symptoms including EDS, insomnia, arrhythmic respiration, sleep apnea, RBD, and sleep-related stridor with vocal cord paresis 23 .…”

Section: Sleep Disorders In Sporadic Ataxiasmentioning

confidence: 99%

“…The PRIAMO study, which analyzed non-motor symptoms in atypical and secondary parkinsonism, found that sleep disturbances were also common with a prevalence of approximately 70% in all diagnostic groups, including MSA patients 27 . RBD and nocturnal stridor are considered red flags and may be the first symptoms of the disease 22 . Sleepdisordered breathing manifests as [1] central hypoventilation that reflects impaired automatic control of ventilation secondary to degeneration of the pontomedullary respiratory centers; and, more commonly, as [2] stridor and obstructive sleep apnea due to larynx narrowing secondary to combined vocal cord abductor paralysis and excessive adductor activation during inspiration 23 .…”

Section: Sleep Disorders In Sporadic Ataxiasmentioning

confidence: 99%

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Sleep disorders in cerebellar ataxias

Pedroso

Braga‐Neto

Felı́cio

et al. 2011

Arq. Neuro-Psiquiatr.

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Cerebellar ataxias comprise a wide range of etiologies leading to central nervous system-related motor and non-motor symptoms. Recently, a large body of evidence has demonstrated a high frequency of non-motor manifestations in cerebellar ataxias, specially in autosomal dominant spinocerebellar ataxias (SCA). Among these nonmotor dysfunctions, sleep disorders have been recognized, although still under or even misdiagnosed. In this review, we highlight the main sleep disorders related to cerebellar ataxias focusing on REM sleep behavior disorder (RBD), restless legs syndrome (RLS), periodic limb movement in sleep (PLMS), excessive daytime sleepiness (EDS), insomnia and sleep apnea. Key words: sleep disorders, ataxias, diagnosis.Distúrbios do sono nas ataxias cerebelares RESUMO As ataxias cerebelares se caracterizam por uma enorme variedade de etiologias, cursando tanto com sintomas motores como também com sintomas não motores. Recentemente, várias evidências têm demonstrado uma frequência elevada de sintomas não motores nas ataxias cerebelares, especialmente nas ataxias espinocerebelares autossômicas dominantes (SCA). Dentre os sintomas não motores, estão os distúrbios do sono, que muitas vezes são sub-diagnosticados ou pouco valorizados. Nessa revisão, enfatizamos os principais distúrbios do sono relatados nas ataxias cerebelares, como transtorno comportamental do sono REM, síndrome das pernas inquietas, movimentos periódicos das pernas no sono, sonolência diurna excessiva, insônia e apnéia do sono. Palavras-chave: distúrbios do sono, ataxias, diagnóstico.

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Section: Sleep Disorders In Sporadic Ataxiasmentioning

confidence: 99%

Section: Sleep Disorders In Sporadic Ataxiasmentioning

confidence: 99%

Section: Sleep Disorders In Sporadic Ataxiasmentioning

confidence: 99%

See 1 more Smart Citation

Sleep disorders in cerebellar ataxias

Pedroso

Braga‐Neto

Felı́cio

et al. 2011

Arq. Neuro-Psiquiatr.

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“…Autonomic dysfunction may be mild or absent in the beginning of the ataxia symptoms, and appear in the course of the disease progression. Response to levodopa is poor in MSA-C 37,38 . Typical neuroimaging features in MSA-C include hyperintense signal in cerebellar peduncles, olivopontocerebellar atrophy (cerebellum and brainstem), and "hot cross bun" sign, which indicates degeneration of the pons fibers (Figure 2) 1,37…”

Section: Multiple System Atrophy -Cerebellar Formmentioning

confidence: 98%

“…Due to the abundant presence of alpha-synuclein in this disease, similar to Parkinson's disease and dementia with Lewy bodies, MSA is currently classified as synucleinopathie. Patients with MSA present a widespread involvement of the central nervous system, with degeneration including basal ganglia, brainstem, cerebellum, pyramidal tracts and spinal cord 37 . Historically, the previous term olivopontocerebellar atrophy, when associated with dysautonomia, is in fact the so called MSA.…”

Section: Multiple System Atrophy -Cerebellar Formmentioning

confidence: 99%

Adult onset sporadic ataxias: a diagnostic challenge

Barsottini

Albuquerque

Neto

et al. 2014

Arq. Neuro-Psiquiatr.

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Patients with adult onset non-familial progressive ataxia are classified in sporadic ataxia group. There are several disease categories that may manifest with sporadic ataxia: toxic causes, immune-mediated ataxias, vitamin deficiency, infectious diseases, degenerative disorders and even genetic conditions. Considering heterogeneity in the clinical spectrum of sporadic ataxias, the correct diagnosis remains a clinical challenge. In this review, the different disease categories that lead to sporadic ataxia with adult onset are discussed with special emphasis on their clinical and neuroimaging features, and diagnostic criteria.Keywords: ataxia, sporadic ataxia, clinical features, diagnostic criteria. RESUMOPacientes com ataxia progressiva que se inicia na idade adulta, e sem histórico familiar da doença, são classificados no grupo das ataxias esporádicas. Existem várias categorias de doenças que podem se manifestar com ataxia esporádica, tais como: causas tóxicas, ataxias imunomediadas, deficiência de vitaminas, doenças infecciosas, doenças degenerativas e até mesmo condições genéticas. Considerando a heterogeneidade no espectro clínico das ataxias esporádicas, a definição da etiologia constitui um desafio diagnóstico. Neste artigo de revisão, realizamos uma discussão sobre as diferentes categorias de doenças que causam ataxia com início na idade adulta sem histórico familiar, com ênfase nas características clínicas, aspectos de imagem e critérios diagnósticos.Palavras-chave: ataxia, ataxias esporádicas, aspectos clínicos, critérios diagnósticos.

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Loss of Myelin-Associated Glycoprotein in Kearns-Sayre Syndrome

Lax

Campbell²,

Reeve³

et al. 2012

Arch Neurol

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Objective To explore myelin components and mitochondrial changes within the central nervous system in patients with well-characterized mitochondrial disorders due to nuclear DNA or mitochondrial DNA (mtDNA) mutations. Design Immunohistochemical analysis, histochemical analysis, mtDNA sequencing, and real-time and long-range polymerase chain reaction were used to determine the pathogenicity of mtDNA deletions. Setting Department of Clinical Pathology, Columbia University Medical Center, and Newcastle Brain Tissue Resource. Patients Seventeen patients with mitochondrial disorders and 7 controls were studied from August 1, 2009, to August 1, 2010. Main Outcome Measure Regions of myelin-associated glycoprotein (MAG) loss. Results Myelin-associated glycoprotein loss in Kearns-Sayre syndrome was associated with oligodendrocyte loss and nuclear translocation of apoptosis-inducing factor, whereas inflammation, neuronal loss, and axonal injury were minimal. In a Kearns-Sayre syndrome MAG loss region, high levels of mtDNA deletions together with cytochrome- c oxidase–deficient cells and loss of mitochondrial respiratory chain subunits (more prominent in the white than gray matter and glia than axons) confirmed the pathogenicity of mtDNA deletions. Conclusion Primary mitochondrial respiratory chain defects affecting the white matter, and unrelated to inflammation, are associated with MAG loss and central nervous system demyelination.

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Multiple system atrophy: an update

Cited by 342 publications

References 60 publications

Sleep disorders in cerebellar ataxias

Sleep disorders in cerebellar ataxias

Adult onset sporadic ataxias: a diagnostic challenge

Loss of Myelin-Associated Glycoprotein in Kearns-Sayre Syndrome

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