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Results for “Multiple System Atrophy”

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PubMed1999

The genetics of disorders with synuclein pathology and parkinsonism.

Despite being considered the archetypal non-genetic neurological disorder, genetic analysis of Parkinson's disease has shown that there are at least three genetic loci. Furthermore, these analyses have suggested that the phenotype of the pathogenic loci is wider than simple Parkinson's disease and may include Lewy body dementia and some forms of essential tremor. Identification of alpha-synuclein as the first of the loci involved in Parkinson's disease and the identification of this protein in pathological deposits in other disorders has led to the suggestion that it may share pathogenic mechanisms with multiple system atrophy, Alzheimer's disease and prion disease and that these mechanisms are related to a synuclein pathway to cell death. Finally, genetic analysis of the synuclein diseases and the tau diseases may indicate that this synuclein pathway is an alternative to the tau pathway to cell death.

Alzheimer Disease↗

PubMed2001

Improved accuracy of clinical diagnosis of Lewy body Parkinson's disease.

The authors studied the accuracy of clinical diagnosis of idiopathic PD (IPD) in 100 consecutive clinically diagnosed cases that came to neuropathological examination. Ninety fulfilled pathologic criteria for IPD. Ten were misdiagnosed: multiple system atrophy (six), progressive supranuclear palsy (two), post-encephalitic parkinsonism (one), and vascular parkinsonism (one). Assessment of the clinical features suggests that an accuracy of 90% may be the highest that can be expected using current diagnostic criteria.

Adult↗

PubMed2003

Movement Disorders Society Scientific Issues Committee report: SIC Task Force appraisal of clinical diagnostic criteria for Parkinsonian disorders.

As there are no biological markers for the antemortem diagnosis of degenerative parkinsonian disorders, diagnosis currently relies upon the presence and progression of clinical features and confirmation depends on neuropathology. Clinicopathologic studies have shown significant false-positive and false-negative rates for diagnosing these disorders, and misdiagnosis is especially common during the early stages of these diseases. It is important to establish a set of widely accepted diagnostic criteria for these disorders that may be applied and reproduced in a blinded fashion. This review summarizes the findings of the SIC Task Force for the study of diagnostic criteria for parkinsonian disorders in the areas of Parkinson's disease, dementia with Lewy bodies, progressive supranuclear palsy, multiple system atrophy, and corticobasal degeneration. In each of these areas, diagnosis continues to rest on clinical findings and the judicious use of ancillary studies.

Biomarkers↗

PubMed2004

Glabellar and palmomental reflexes in Parkinsonian disorders.

The authors examined the glabellar reflex and the palmomental reflex in 100 subjects, including patients with Parkinson disease (n = 41), patients with progressive supranuclear palsy (n = 12), patients with multiple system atrophy (n = 7), and healthy, age-matched, controls (n = 40). The study provides evidence that these reflexes, particularly glabellar reflex, are relatively sensitive signs of parkinsonian disorders, but they lack specificity as they do not differentiate among the three most common parkinsonian disorders.

Adult↗

PubMed2005

Case report: Tai Chi and Parkinsonism.

BACKGROUND AND PURPOSE: To describe the effects of an eight-week Tai Chi class on two patients: one with Parkinson's disease, the other with multiple system atrophy. METHOD AND RESULTS: Both patients demonstrated improved scores on the Activities-specific Balance Confidence Scale and the Functional Reach Test. One subject also demonstrated improved scores for the Timed Up and Go test. Both subjects reported subjective improvements in balance and balance awareness. CONCLUSIONS: Tai Chi may be a viable option for improving balance in patients with mild Parkinsonism.

Female↗

PubMed2005

Differentiation of Parkinson's disease and atypical parkinsonian syndromes by transcranial ultrasound.

Neuroimaging is known to complement clinical findings in the diagnostic work up of parkinsonian syndromes. Recently, transcranial ultrasound was reported to have a high diagnostic yield in differentiating idiopathic Parkinson's disease (IPD) from atypical parkinsonian syndromes. This report summarises the sonographic findings of 102 patients with IPD, 34 patients with multiple system atrophy, and 21 patients with progressive supranuclear palsy. Increased echogenicity of the substantia nigra is predictive for IPD whereas a low echogenic substantia nigra, particularly when combined with a hyperechogenic lentiform nucleus, strongly suggests an atypical Parkinsonian syndrome. The underlying causes for the differential echo pattern of the substantia nigra remain unknown.

Aged↗

PubMed2002

Association of Lewy bodies and glial cytoplasmic inclusions in the brain of Parkinson's disease.

We report the histopathological and immunohistochemical findings from the brain of an elderly patient diagnosed with Parkinson's disease (PD). Neuropathological examination revealed moderate neuronal cell loss and astrocytosis in the substantia nigra. Lewy bodies were found in many sites characteristic for PD, including the substantia nigra, locus coeruleus, hypothalamus, substantia innominata, pontine raphe nucleus, and dorsal motor vagal nucleus, cingulate and insular cortices. Furthermore, argyrophilic glial intracytoplasmic inclusions were found predominantly in the ventral pons, cerebellar white matter, precentral and frontal white matter, internal and external capsule, claustrum, and putamen. Inclusions were triangular in shape, and immunopositive for ubiquitin and alpha-synuclein. In view of these histopathological and immunohistochemical findings and patterns of distribution, the inclusions were suggested to be glial cytoplasmic inclusions (GCIs) in multiple system atrophy (MSA). These findings suggested that our case might have experienced two pathological processes; PD and the early stage of MSA (striatonigral degeneration) that had not progressed to striatal involvement. Alternatively a common pathological background including abnormal processing of alpha-synuclein could contribute to widespread accumulation of Lewy bodies and GCIs in a single condition accompanied by nigral degeneration.

Aged↗

PubMed2004

PET and SPECT functional imaging in Parkinson's disease.

Neuroimaging studies of the dopaminergic system with positron emission tomography and single photon emission computed tomography radioligands are useful in the assessment of neuronal degeneration in Parkinson's disease. Abnormalities can be identified early in the disease process and used to monitor progression as well as the effect of treatment. Studies of dopamine receptors and brain metabolism can help identify those patients who have other Parkinsonian syndromes, such as multiple system atrophy, progressive sopranuclear palsy or diffuse Lewy body dementia. The current available diagnostic criteria for these disorders rely solely on the presence of signs and symptoms that may require months or years to become fully clinically manifest. Conversely, the use of neuroimaging techniques can significantly shorten the diagnostic process and prove a useful means to the neurologist in those cases presenting with uncertain clinical diagnosis.

Brain↗

PubMed2002

The differential diagnosis of Parkinson's disease.

The diagnosis of Parkinson's disease continues to be challenging with misdiagnosis rates as high as 20-30% in early stages. Such diagnostic inaccuracy is largely due to failure to recognize atypical parkinsonian disorders including multiple system atrophy (MSA), progressive supranuclear palsy (PSP), corticobasal degeneration (CBD) and dementia with Lewy bodies (DLB). These disorders are characterized by distinctive sets of atypical features that have been incorporated into recent consensus diagnostic criteria. Early diagnosis of atypical parkinsonian disorders is important not only because of prognostic implications, but also because of variable therapeutic targets such as autonomic failure, apraxia or dementia.

Basal Ganglia Diseases↗

PubMed2000

Depression in alpha-synucleinopathies: prevalence, pathophysiology and treatment.

Parkinson's disease (PD), dementia with Lewy bodies (DLB) and multiple system atrophy (MSA) are increasingly recognized as alpha-synucleinopathies, i.e. neurodegenerative disorders that share a common subcellular pathology characterized by alpha-synuclein abnormal aggregation. In the present review we focus on depression in alpha-synucleinopathies, discussing epidemiological, pathophysiological and treatment aspects of this frequently disabling clinical feature which may occur in PD, DLB and MSA alike.

Animals↗

PubMed2005

Atypical parkinsonism combining alpha-synuclein inclusions and polyglucosan body disease.

Adult polyglucosan body disease (APGBD) is a rare disorder affecting the central and peripheral nervous systems and in which parkinsonism is unusual. A 71-year-old man presented levodopa-unresponsive parkinsonism with urinary incontinence and recurrent syncopes of 6 years standing masquerading as atypical parkinsonism of the multiple system atrophy (MSA-P) type. Brain histopathology demonstrated massive accumulation of polyglucosan bodies particularly in the putamen. In addition, there were dense alpha-synuclein-positive cytoplasmic oligodendroglial inclusions in the pons and in the middle cerebellar peduncle. These inclusions may be either due to the chance association of MSA-P with APGBD, or pathologically related to APGBD.

Aged↗

PubMed2006

Pupil abnormalities in selected autonomic neuropathies.

Examination of the pupil provides an opportunity to detect disturbances in the autonomic innervation of the eye. The pupil is frequently affected in patients with generalized autonomic neuropathies. This literature review confirms a high prevalence of sympathetic deficits and parasympathetic deficits in acute or subacute dysautonomia, diabetes, amyloidosis, pure autonomic failure, paraneoplastic syndromes, Sjögren syndrome, familial dysautonomia, and dopamine beta-hydroxylase deficiency. It confirms the relative scarcity of a pupil abnormality in patients with multiple system atrophy. There are difficulties in clinical diagnosis of pupil abnormalities and interpretation of pupil pharmacologic tests, particularly when combined sympathetic and parasympathetic deficits are present.

Amyloidosis↗

PubMed1999

EMG responses to free fall in elderly subjects and akinetic rigid patients.

OBJECTIVES: The EMG startle response to free fall was studied in young and old normal subjects, patients with absent vestibular function, and patients with akinetic-rigid syndromes. The aim was to detect any derangement in this early phase of the "landing response" in patient groups with a tendency to fall. In normal subjects the characteristics of a voluntary muscle contraction (tibialis anterior) was also compared when evoked by a non-startling sound and by the free fall startle. METHODS: Subjects lay supine on a couch which was unexpectedly released into free fall. Latencies of multiple surface EMG recordings to the onset of free fall, detected by a head mounted linear accelerometer, were measured. RESULTS AND CONCLUSIONS: (1) EMG responses in younger normal subjects occurred at: sternomastoid 54 ms, abdominals 69 ms, quadriceps 78 ms, deltoid 80 ms, and tibialis anterior 85 ms. This pattern of muscle activation, which is not a simple rostrocaudal progression, may be temporally/spatially organised in the startle brainstem centres. (2) Voluntary tibialis EMG activation was earlier and stronger in response to a startling stimulus (fall) than in response to a non-startling stimulus (sound). This suggests that the startle response can be regarded as a reticular mechanism enhancing motor responsiveness. (3) Elderly subjects showed similar activation sequences but delayed by about 20 ms. This delay is more than can be accounted for by slowing of central and peripheral motor conduction, therefore suggesting age dependent delay in central processing. (4) Avestibular patients had normal latencies indicating that the free fall startle can be elicited by non-vestibular inputs. (5) Latencies in patients with idiopathic Parkinson's disease were normal whereas responses were earlier in patients with multiple system atrophy (MSA) and delayed or absent in patients with Steele-Richardson-Olszewski (SRO) syndrome. The findings in this patient group suggest: (1) lack of dopaminergic influence on the timing of the startle response, (2) concurrent cerebellar involvement in MSA may cause startle disinhibition, and (3) extensive reticular damage in SRO severely interferes with the response to free fall.

Accidental Falls↗

PubMed2004

Measurements of transcallosally mediated cortical inhibition for differentiating parkinsonian syndromes.

Clinicopathologic evidence suggests differential involvement of cortex and corpus callosum (CC) in various disorders presenting with a parkinsonian syndrome. We tested the hypothesis of whether neurophysiologic and morphometric assessments of CC as surrogate parameters of cortical involvement could be helpful in differential diagnosis of parkinsonian disorders. The integrity of CC was assessed neurophysiologically by measuring the ipsilateral silent period (iSP) evoked by transcranial magnetic stimulation (TMS) in a total of 25 patients with idiopathic parkinsonian syndromes (IPS), corticobasal ganglionic degeneration (CBD), progressive supranuclear palsy (PSP), or multiple system atrophy (MSA). Additionally, morphometric analyses of magnetic resonance imaging (MRI) measurements of CC was carried out in all patients. iSP was abnormal in all 5 CBD and all 5 PSP patients, whereas it was intact in all 10 IPS patients and all 5 MSA patients. Among various MRI parameters of CC, testing between different groups revealed a significant difference only for measurements of the middle part of the truncus. CBD and PSP patients exhibited a significant atrophy as compared with control subjects. These data suggest impairment of callosal integrity in patients with CBD and PSP. iSP measurements may be a useful clinical neurophysiologic test in differential diagnosis of patients with parkinsonian syndromes.

Aged↗

PubMed2005

How to diagnose MSA early: the role of magnetic resonance imaging.

The clinical differentiation between Parkinson's disease (PD) and multiple system atrophy (MSA) remains a challenge for each neurologist. The use of different magnetic resonance imaging (MRI) techniques including conventional MRI, proton magnetic resonance spectroscopy (MRS), diffusion-weighted imaging (DWI), magnetization transfer imaging (MTI) and MR volumetry (MRV) offer the potential for objective criteria in the differential diagnosis of neurodegenerative parkinsonism. The aim of this article is to review the role of different MRI techniques in the differential diagnosis of PD and MSA.

Animals↗

PubMed2006

PINK1 protein in normal human brain and Parkinson's disease.

Parkinson's disease is a common incurable neurodegenerative disease whose molecular aetiology remains unclear. The identification of Mendelian genes causing rare familial forms of Parkinson's disease has revealed novel proteins and pathways that are likely to be relevant in the pathogenesis of sporadic Parkinson's disease. Recently, mutations in a novel gene, PINK1, encoding a 581 amino acid protein with both mitochondrial targeting and serine/threonine kinase domains, were identified as a cause of autosomal recessive parkinsonism. This provided important evidence for the role of the mitochondrial dysfunction and kinase pathways in neurodegeneration. In this study, we report the first characterization of the PINK1 protein in normal human and sporadic Parkinson's brains, in addition to Parkinson's cases with heterozygous PINK1 mutations. The possible role of the PINK1 protein was also assessed in a number of neurodegenerative diseases characterized by proteinaceous inclusions. For these studies, rabbit polyclonal antibodies were raised against two peptide sequences within the N-terminal hydrophilic loops of PINK1 protein. Using immunohistochemistry and western blotting we were able to demonstrate that PINK1 is a ubiquitous protein expressed throughout the human brain and it is found in all cell types showing a punctate cytoplasmic staining pattern consistent with mitochondrial localization. Fractionation studies of human and rat brain confirm that PINK1 is localized to the mitochondrial membranes. In addition, we show that PINK1 is detected in a proportion of Lewy bodies in cases of sporadic Parkinson's disease and Parkinson's disease associated with heterozygous mutations in the PINK1 gene, which are clinically and pathologically indistinguishable from the sporadic cases. PINK1 was absent in cortical Lewy bodies, in neurofibrillary tangles in Alzheimer's disease, progressive supranuclear palsy and corticobasal degeneration, and in the glial and neuronal alpha-synuclein positive inclusions in multiple system atrophy. These studies provide for the first time in vivo morphological and biochemical evidence to support a mitochondrial localization of PINK1 and underpin the significance of mitochondrial dysfunction in the pathogenesis of nigral cell degeneration in Parkinson's disease.

Alzheimer Disease↗

PubMed2002

Olfactory function in Parkinsonian syndromes.

The study aimed to compare olfactory function in idiopathic Parkinson's disease (IPD) and nonidiopathic Parkinson's syndrome (PS). At their first visit 50 PS patients (age 38-80 years) received testing for odor threshold, olfactory discrimination and identification. All patients underwent extensive neurological diagnostics including PET scans. Patients were followed up for 6-12 months. Most of IPD patients were functionally anosmic (n=19), the remaining IPD patients had severe/moderate hyposmia (n=18). PS patients diagnosed with multiple system atrophy had less severe olfactory deficits (7 hyposmia, 1 normosmia). With the exception of 1 hyposmic patient, other PS patients had no olfactory deficits (progressive supranuclear palsy, corticobasal degeneration, psychogenic PS, essential tremor). This study added to previous findings: (1) there was no major difference betwesen olfactory function in IPD subtypes; (2) all olfactory tests differentiated IPD from nonIPD. These data suggest that olfactory probes improve the diagnostic armamentarium in IPD.

Adult↗

PubMed2002

Brain proteasomal function in sporadic Parkinson's disease and related disorders.

Because genetic defects relating to the ubiquitin-proteasome system were reported in familial parkinsonism, we evaluated proteasomal function in autopsied brains with sporadic Parkinson's disease. We found that proteasome peptidase activities in a fraction specific to the proteasome were preserved in five brain areas (including the striatum) of Parkinson's disease where neuronal loss is not observed. Striatal protein levels of two proteasome subunits were normal in Parkinson's disease but reduced mildly in disease controls (multiple system atrophy). Our brain data suggest that a systemic, global disturbance in the catalytic activity and degradation ability of the proteasome itself is unlikely to explain the cause of Parkinson's disease.

Aged↗