Cerebellar presentation of multiple system atrophy (original) (raw)
Related papers
Cureus, 2020
Multiple system atrophy (MSA) is a rare, progressive, fatal, neurodegenerative disorder. There are two main types: the parkinsonian type (MSA-P) and cerebellar type (MSA-C). The disease usually presents with genitourinary dysfunction, orthostatic hypotension, and rapid eye movement (REM) sleep behavior disorder. Patients rapidly develop balance, speech, and coordination abnormalities. We present a review of the clinical picture and the actualized treatment modalities of the MSA cerebellar type. For the study methods, a PubMed search was done using the following medical subject headings (MeSH) terms: “multiple system atrophy/therapy". Inclusion criteria included studies in English, full papers, human studies, and publications in the last 30 years. Case reports and series were excluded. A total of 157 papers were extracted after applying the inclusion and exclusion criteria, and 41 papers were included for the discussion of this review. This review underlines the therapeutic stra...
Acta Neurologica Scandinavica, 1988
AEiSTRAn-Ten patients with sporadic late onset cerebellar ataxia (LOCA) are described. The mean age of onset was 50.4 +/-7.13 years. The important clinical features were gait ataxia, poor coordination of hands, intention tremors, exaggerated deep tendon reflexes, extrapyramidal symptoms and extensor plantar responses. Computerised tomography (CT) scanning in one patient showed a low density mid-line lesion, suggesting early cerebellar atrophy. Histopathological examination in one patient, clinically diagnosed as multiple sclerosis, revealed complete loss of Purkinje cells from the cerebellar folia with gliosis in the molecular layer and loss of small granular neurones. A marked loss of the neurones from the olivary nuclei with astrocytic proliferation was also seen. The disorder is probably genetically determined although a single Mendelian inheritance is unlikely in the absence of recurrence in the first degree relatives. Recurrence risks for gentic counselling are suggested.
Primary progressive cerebellar ataxia
Neuroradiology, 1989
Thirty-two patients with primary progressive cerebellar ataxia were studied using MRI. This technique is better than CT in demonstrating atrophy of cerebellar structures as well as of brainstem and spinal cord. The differential diagnosis from other diseases particularly with multiple sclerosis is easier. The degree of ataxia correlated well with the degree of atrophy of cerebellum. However we could not see any correlation between the degree of atrophy and the onset and duration of the disease and no certain specific aspects could be demonstrated in the different groups examined.
Comparison of cerebellar ataxias: A three-year prospective longitudinal assessment
Movement Disorders, 2011
A B S T R A C T : We quantitatively investigated the clinical severity and progression of diseases with ataxia, as measured with the Scale for the Assessment and Rating of Ataxia, and examined the potential application of the Scale for the Assessment and Rating of Ataxia for future therapeutic trials. Severity of ataxia was assessed in 238 patients with spinocerebellar ataxia type 2, spinocerebellar ataxia type 3, spinocerebellar ataxia type 6, spinocerebellar ataxia type 17, multiple system atrophycerebellar variant, or Gerstman-Strä ussler-Scheinker disease. Among them, 119 (50%) were longitudinally examined three to seven times, in a period of 8 to 38 months, resulting in a total set of 535 assessments. The differences between spinocerebellar ataxia and multiple system atrophy-cerebellar variant were ascertained cross-sectionally and longitudinally. Gerstman-Strä ussler-Scheinker disease had the fastest progression, followed by multiple system atrophy-cerebellar variant, spinocerebellar ataxia type 17, spinocerebellar ataxia type 3, spinocerebellar ataxia type 2, and spinocerebellar ataxia type 6. Patients with multiple system atrophy-cerebellar variant had a faster progression in gait, sitting, speech, and total score than patients with spinocerebellar ataxias. For a randomized, case-control trial, a sample size of 47 for spinocerebellar ataxia and 85 for multiple system atrophycerebellar variant in the treatment or placebo arms would have a sufficient statistical power to demonstrate the efficacy of a new therapy that would retard ataxia progression by 1 point per year as measured by the Scale for the Assessment and Rating of Ataxia. The results will have a significant impact on the planning and implementation of future therapeutic trials of spinocerebellar ataxia and multiple system atrophy-cerebellar variant. V C 2011 Movement Disorder Society
Multiple System Atrophy-Cerebellar Type (MSA- C): A Case Report
https://www.ijhsr.org/IJHSR\_Vol.7\_Issue.1\_Jan2017/IJHSR\_Abstract.048.html, 2017
Introduction: Multiple system atrophy (MSA) is a sporadic, progressive neurodegenerative disorder has clinical symptoms characterized by variable combination of Parkinsonism disease like symptoms, cerebellar ataxia & / or autonomic failure. Presentation of Case: We describe one patient having cerebellar signs with MRI features predominant of MSA-C or olivopontocerebellar atrophy showing pontine “Hot cross Bun sign” with having unusual focal hemorrhages in bilateral globus pallidus. Discussion: Striatonigral degeneration (MSA-P), characterized clinically by parkinsonian symptoms with degenerative changes predominantly affect basal ganglia, particularly the putamen. Shy-Drager syndrome (MSA-SDS) characterized by autonomic nervous system failure with somewhat variable pathologic changes, characterize by neuronal loss in the substantia nigra and the intermediolateral cell column of the spinal cord. Olivopontocerebellar atrophy (OPCA or MSA-C) characterized by predominantly by cerebellar signs, with predominant olivopontocerebellar atrophy. Conclusion: We mainly draw attention to an uncommon case with predominant MSA-C signs& findings showing pontine “Hot cross Bun sign” having having unusual focal hemorrhages in bilateral globus pallidus.
Idiopathic very late-onset cerebellar ataxia: a Brazilian case series
Arquivos de neuro-psiquiatria, 2015
The authors present a Brazilian case series of eight patients with idiopathic very-late onset (mean 75.5 years old) cerebellar ataxia, featuring predominantly gait ataxia, associated with cerebellar atrophy. 26 adult patients with a diagnosis of idiopathic late onset cerebellar ataxia were analyzed in a Brazilian ataxia outpatient clinic and followed regularly over 20 years. Among them, 8 elderly patients were diagnosed as probable very late onset cerebellar ataxia. These patients were evaluated with neurological, ophthalmologic and Mini-Mental Status examinations, brain MRI, and EMG. 62.5% of patients were males, mean age was 81.9 years-old, and mean age of onset was 75.5 years. Gait cerebellar ataxia was observed in all patients, as well as, cerebellar atrophy on brain MRI. Mild cognitive impairment and visual loss, due to macular degeneration, were observed in 50% of cases. Chorea was concomitantly found in 3 patients. We believe that this condition is similar the one described b...
Scientific Reports
Differentiation cerebellar multiple systemic atrophy (MSA-C) from spinocerebellar ataxia (SCA) is important. The “hot cross bun” sign (HCBS) at pons and magnetic resonance spectroscopy (MRS) are helpful. However, the prevalence of HCBS and the alteration of cerebellar MRS parameters are evolving with disease progression. We hypothesized that since the HCBS and MRS are evolving with time, different parameters for differentiation of MSA-C and SCA are required at different disease stages. The aim of this study was to evaluate the HCBS and MRS changes in patients with MSA-C and SCA at different disease stages. A total of 398 patients with molecularly confirmed SCA (SCA1, 2, 3, 6, 17) and 286 patients diagnosed with probable MSA-C (without mutations in SCA1, 2, 3, 6, 17 genes), who had received brain magnetic resonance imaging (MRI) and MRS from January 2000 to January 2020, were recruited. Twenty-five patients were molecularly identified as having SCA1, 68 as SCA2, 253 as SCA3, 34 as SC...
The Cerebellum, 2019
Background: Sporadic adult onset ataxia of unknown etiology (SAOA) is a non-genetic neurodegenerative disorder of the cerebellum of unknown cause which manifests with progressive ataxia without severe autonomic failure. Although SAOA is associated with cerebellar degeneration, little is known about the specific cerebellar atrophy pattern in SAOA. Methods: 37 SAOA patients and 49 healthy controls (HCs) were included at two centers. We investigated the structural and functional characteristics of SAOA brains using voxel based morphometry (VBM) and resting state functional imaging (rs-fMRI). In order to examine the functional consequence of structural cerebellar alterations, the amplitude of low frequency fluctuation (ALFF) and degree centrality (DC) were analyzed, and then assessed their relation with disease severity, disease duration, and age of onset within these regions. Group differences were investigated using two-sample t-tests, controlling for age, gender, site, and the total intracranial volume. Results: The VBM analysis revealed a significant, mostly bilateral reduction of local gray matter (GM) volume in lobules I-V, V, VI, IX, X and vermis VIIIa/b in SAOA patients, compared to HCs. The GM volume loss in these regions was significantly associated with disease severity, disease duration and age of onset. The disease-related atrophy regions did not show any functional alternations compared with HCs, but were functionally characterized by high ALFF and poor DC compared with intact cerebellar regions. Conclusions: Our data revealed volume reduction in SAOA in cerebellar regions that are known to be involved in motor and somatosensory processing, corresponding with the clinical phenotype of SAOA. Our data suggest that the atrophy occurs in those cerebellar regions which are characterized by high ALFF and poor DC. Further studies have to show if these findings are specific for SAOA, and if they can be used to predict disease progression.
Epidemiology of Cerebellar Ataxia on the Etiological Basis: A Cross Sectional Study
Acta medica Iranica
Cerebellar ataxias are a heterogenous group of disorders, clinically and etiologically, that result in considerable health burden. Finding out about the various etiologies, and their relative prevalences in the population suffering from cerebellar ataxia helps the clinician to perform a better management, in treatment process. This is a cross sectional study designed to estimate the relative prevalence of each etiologic factor. One-hundred and thirty-five patients ,in the range of 6 to 73 years from march 1993 to march1999, were clas-sified in different groups on the basis of etiological findings. Relative prevalence of each of the etiological factors , common accompanying disorders besides ataxia in the patients,CT and MRI changes,and CSF alte-rations are studied and recorded. A widely spread age group, and the extended number of the cases under study, are the advantages of the current study over the previously reported case series. Among the etiologic groups, multiple sclerosis, c...