Two patients are described with clinical and neuroimaging features consistent with a diagnosis of multiple system atrophy (MSA). The patients are unusual in that facial myokymia became apparent clinically at some stage in their illness. In each patient, the nature and severity of the involuntary facial movements evolved over the course of the illness. Electrophysiologically the movement pattern...

Multiple system atrophy (MSA) is a sporadic neurodegenerative disorder characterized by various combinations of autonomic dysfunction, cerbellar symptoms, parkinsonism and pyramidal signs. Although molecular mechanisms of MSA remain to be elucidated, genome-wide association studies (GWAS) may provide clues as to the susceptibility genes for MSA. Establishment of the natural history of MSA is es...

Multiple system atrophy (MSA) is a rare, fatal, rapidly progressing neurodegenerative disorder of uncertain etiology that is clinically characterized by a variable combination of parkinsonism, cerebellar impairment, autonomic dysfunction and pyramidal tract signs. The mean age of disease onset is 56±9 years with poor prognosis and a mean survival of 9.5 years. The prevalence is 1.9 to 4.9 cases...

Multiple system atrophy is a progressive neurodegenerative disorder that is characterized by autonomic failure, cerebellar ataxia and parkinsonism syndrome in various combinations. In spite of the presence of well-established clinical criteria for multiple system atrophy, ante-mortem diagnosis is difficult. In our case report, we present a 78-year-old female patient who presented with early pro...

The clinical diagnosis of multiple system atrophy (MSA) is fraught with difficulty and there are no pathognomonic features to discriminate the parkinsonian variant (MSA-P) from Parkinson's disease (PD). Besides the poor response to levodopa, and the additional presence of pyramidal or cerebellar signs (ataxia) or autonomic failure as major diagnostic criteria, certain other clinical features kn...

Multiple system atrophy (MSA) is a fatal adult-onset neurodegenerative disorder of uncertain etiopathogenesis manifesting with autonomic failure, parkinsonism, and ataxia in any combination. The underlying neuropathology affects central autonomic, striatonigral and olivopontocerebellar pathways and it is associated with distinctive glial cytoplasmic inclusions (GCIs, Papp-Lantos bodies) that co...

Multiple system atrophy (MSA) is a rare, late-onset and fatal neurodegenerative disease including multisystem neurodegeneration and the formation of α-synuclein containing oligodendroglial cytoplasmic inclusions (GCIs), which present the hallmark of the disease. MSA is considered to be a sporadic disease; however certain genetic aspects have been studied during the last years in order to shed l...

BACKGROUND Multiple system atrophy (MSA) has been considered a sporadic disease, without patterns of inheritance. OBJECTIVE To describe the clinical features of 4 multiplex families with MSA, including clinical genetic aspects. DESIGN Clinical and genetic study. SETTING Four departments of neurology in Japan. Patients Eight patients in 4 families with parkinsonism, cerebellar ataxia, and ...

Multiple system atrophy (MSA) is a fatal orphan neurodegenerative disorder that manifests with autonomic, parkinsonian, cerebellar, and pyramidal features. It is characterized by the accumulation of misfolded α-synuclein (αSyn) in oligodendroglia and neurons, affecting multiple parts of the central, autonomic and perípheral system. Both the etiology and pathogenesis of MSA are unknown, although...