Joint and skeletal deformities in Parkinson's disease, multiple system atrophy, and progressive supranuclear palsy
TL;DR: Clinical features of joint and skeletal deformities in Parkinson's disease, multiple system atrophy, and progressive supranuclear palsy are characterized to cause marked functional disability independent of other motor symptoms.
Abstract: The objective of this study is to characterize clinical features of joint and skeletal deformities in Parkinson's disease (PD), multiple system atrophy (MSA), and progressive supranuclear palsy (PSP). Clinical information including age, gender, presence of deformity, initial symptom side, neuropsychological and motor features, family history, and treatment with levodopa/dopamine agonists was collected on consecutive patients with PD, MSA, and PSP evaluated at the Movement Disorders Clinic at Baylor College of Medicine. In this series of 202 patients, 36.1% had deformities of the limbs, neck, or trunk, including 33.5% of PD, 68.4% of MSA, and 26.3% of PSP patients. "Striatal" hand and foot deformities were present in 13.4%, involuntary trunk flexion in 12.9%, anterocollis in 9.4%, and scoliosis in 8.4% of all patients. Patients with these joint and skeletal deformities had higher mean Unified Parkinson's Disease Rating Scale scores (57.4 vs. 46.6; P < 0.01) and were more often treated with levodopa (69.9% vs. 50.4%; P < 0.01) than patients without deformity, independent of disease duration. Patients with striatal deformity were younger than patients without deformity (mean 60.4 vs. 68.6 years; P < 0.01), and they tended to have an earlier age of onset of initial parkinsonian symptoms (mean 54.7 vs. 62.5 years; P < 0.01). Furthermore, the side of striatal deformity correlated with the side of initial parkinsonian symptoms in all patients (100%) with striatal hand and in 83.3% of patients with striatal foot. Joint and skeletal deformities are common and frequently under-recognized features of PD, MSA, and PSP that often cause marked functional disability independent of other motor symptoms.
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TL;DR: A thorough understanding of the broad spectrum of clinical manifestations of PD is essential to the proper diagnosis of the disease and genetic mutations or variants, neuroimaging abnormalities and other tests are potential biomarkers that may improve diagnosis and allow the identification of persons at risk.
Abstract: Objective: Parkinson’s disease (PD) is a progressive neurological disorder characterised by a large number of motor and non-motor features that can impact on function to a variable degree. This review describes the clinical characteristics of PD with emphasis on those features that differentiate the disease from other parkinsonian disorders. Methods: A MedLine search was performed to identify studies that assess the clinical characteristics of PD. Search terms included “Parkinson’s disease”, “diagnosis” and “signs and symptoms”. Results: Because there is no definitive test for the diagnosis of PD, the disease must be diagnosed based on clinical criteria. Rest tremor, bradykinesia, rigidity and loss of postural reflexes are generally considered the cardinal signs of PD. The presence and specific presentation of these features are used to differentiate PD from related parkinsonian disorders. Other clinical features include secondary motor symptoms (eg, hypomimia, dysarthria, dysphagia, sialorrhoea, micrographia, shuffling gait, festination, freezing, dystonia, glabellar reflexes), non-motor symptoms (eg, autonomic dysfunction, cognitive/neurobehavioral abnormalities, sleep disorders and sensory abnormalities such as anosmia, paresthesias and pain). Absence of rest tremor, early occurrence of gait difficulty, postural instability, dementia, hallucinations, and the presence of dysautonomia, ophthalmoparesis, ataxia and other atypical features, coupled with poor or no response to levodopa, suggest diagnoses other than PD. Conclusions: A thorough understanding of the broad spectrum of clinical manifestations of PD is essential to the proper diagnosis of the disease. Genetic mutations or variants, neuroimaging abnormalities and other tests are potential biomarkers that may improve diagnosis and allow the identification of persons at risk.
4,349 citations
Cites background from "Joint and skeletal deformities in P..."
...striatal deformities tend to be younger and to experience earlier onset of initial parkinsonian symptoms.(44)...
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...Other skeletal abnormalities include extreme neck flexion (‘‘dropped head’’ or ‘‘bent spine’’), truncal flexion (camptocormia) and scoliosis.(44) 46–48 Camptocormia is characterised by extreme flexion of the thoracolumbar spine....
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TL;DR: Improved understanding of the mechanisms underlying postural deformities in PD might ultimately lead to more effective management strategies for these disabling and drug-refractory complications.
Abstract: Postural deformities are frequent and disabling complications of Parkinson's disease (PD) and atypical parkinsonism. These deformities include camptocormia, antecollis, Pisa syndrome, and scoliosis. Recognition of specific postural syndromes might have differential diagnostic value in patients presenting with parkinsonism. The evidence to date suggests that postural deformities have a multifactorial pathophysiology. Contributing factors include muscular rigidity; axial dystonia; weakness caused by myopathy; body scheme defects due to centrally impaired proprioception; and structural changes in the spine. The relative contribution of these different factors varies between patients and across specific syndromes. Improved understanding of the mechanisms underlying postural deformities in PD might ultimately lead us to more effective management strategies for these disabling and drug-refractory complications.
402 citations
TL;DR: A framework for understanding balance dysfunction in PD is described to help clinicians recognize patients who are at risk for falling and impaired mobility.
Abstract: People with Parkinson's disease (PD) suffer from progressive impairment in their mobility Locomotor and balance dysfunction that impairs mobility in PD is an important cause of physical and psychosocial disability The recognition and evaluation of balance dysfunction by the clinician are an essential component of managing PD In this review, we describe a framework for understanding balance dysfunction in PD to help clinicians recognize patients who are at risk for falling and impaired mobility
183 citations
TL;DR: A four-tier taxonomy to improve classification of pain in Parkinson disease is proposed, which assigns nociceptive, neuropathic and miscellaneous pains to distinct categories, as well as further characterization into subcategories.
Abstract: Pain is a nonmotor symptom that substantially affects the quality of life of at least one-third of patients with Parkinson disease (PD). Interestingly, patients with PD frequently report different types of pain, and a successful approach to distinguish between these pains is required so that effective treatment strategies can be established. Differences between these pains are attributable to varying peripheral pain mechanisms, the role of motor symptoms in causing or amplifying pain, and the role of PD pathophysiology in pain processing. In this Review, we propose a four-tier taxonomy to improve classification of pain in PD. This taxonomy assigns nociceptive, neuropathic and miscellaneous pains to distinct categories, as well as further characterization into subcategories. Currently, treatment of pain in PD is based on empirical data only, owing to a lack of controlled studies. The facultative symptom of 'dopaminergically maintained pain' refers to pain that benefits from antiparkinson medication. Here, we also present additional pharmacological and nonpharmacological treatment approaches, which can be targeted to a specific pain following classification using our taxonomy.
182 citations
TL;DR: Increased understanding of basal ganglia pathways has provided further insights into the pathogenesis of pain in PD, but the exact mechanism of pain processing and modulation remains unclear.
Abstract: Pain and other nonmotor symptoms in PD are increasingly recognized as a major cause of reduced health-related quality of life. Pain in PD may be categorized into a number of different subtypes, including musculoskeletal, dystonic, radicular neuropathic, and central pain. The onset of pain can vary in relation to motor symptoms, and may precede the appearance of motor symptoms by several years, or occur after the diagnosis of PD has been made. Pain in PD is frequently under-recognized and is often inadequately treated. Levodopa-related dystonia may respond to manipulation of dopaminergic medication. Dopaminergic therapy may also improve musculoskeletal pain related to rigidity and akinesia, as well as akathisia in PD. Botulinum toxin injections can be effective for treatment of painful focal dystonia. Pain and dysesthesia have been reported to improve with DBS, in some cases. Increased understanding of basal ganglia pathways has provided further insights into the pathogenesis of pain in PD, but the exact mechanism of pain processing and modulation remains unclear.
163 citations
References
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TL;DR: A clinical diagnostic classification based on a comprehensive review of the literature regarding the sensitivity and specificity of the characteristic clinical features of PD is proposed: Definite, Probable, and Possible.
Abstract: The clinical diagnosis of Parkinson disease (PD) is based on the identification of some combination of the cardinal motor signs of bradykinesia, rigidity, tremor, and postural instability, but few attempts have been made to develop explicit diagnostic criteria. We propose a clinical diagnostic classification based on a comprehensive review of the literature regarding the sensitivity and specificity of the characteristic clinical features of PD. Three levels of diagnostic confidence are differentiated: Definite, Probable, and Possible. The diagnoses of Possible and Probable PD are based on clinical criteria alone. Neuropathologic confirmation is required for the diagnosis of Definite PD in patients with the clinical diagnosis of Possible or Probable PD. Criteria for histopathologic confirmation of PD are also presented.
2,747 citations
TL;DR: Criteria that support the diagnosis of progressive supranuclear palsy, and that exclude diseases often confused with PSP, are presented.
Abstract: To improve the specificity and sensitivity of the clinical diagnosis of progressive supranuclear palsy (PSP, Steele-Richardson-Olszewski syndrome), the National Institute of Neurological Disorders and Stroke (NINDS) and the Society for PSP, Inc. (SPSP) sponsored an international workshop to develop an accurate and universally accepted set of criteria for this disorder. The NINDS-SPSP criteria, which were formulated from an extensive review of the literature, comparison with other previously published sets of criteria, and the consensus of experts, were validated on a clinical data set from autopsy-confirmed cases of PSP. The criteria specify three degrees of diagnostic certainty: possible PSP, probable PSP, and definite PSP. Possible PSP requires the presence of a gradually progressive disorder with onset at age 40 or later, either vertical supranuclear gaze palsy or both slowing of vertical saccades and prominent postural instability with falls in the first year of onset, as well as no evidence of other diseases that could explain these features. Probable PSP requires vertical supranuclear gaze palsy, prominent postural instability, and falls in the first year of onset, as well as the other features of possible PSP. Definite PSP requires a history of probable or possible PSP and histopathologic evidence of typical PSP. Criteria that support the diagnosis of PSP, and that exclude diseases often confused with PSP, are presented. The criteria for probable PSP are highly specific, making them suitable for therapeutic, analytic epidemiologic, and biologic studies, but not very sensitive. The criteria for possible PSP are substantially sensitive, making them suitable for descriptive epidemiologic studies, but less specific. An appendix provides guidelines for diagnosing and monitoring clinical disability in PSP.
2,382 citations
Journal Article•
TL;DR: The clinical features of the disease, which include four domains: autonomic failure/urinary dysfunction, parkinsonism and cerebellar ataxia, and corticospinal dysfunction, are described and criteria to define the relative importance of these features are set.
Abstract: We report the results of a consensus conference on the diagnosis of multiple system atrophy (MSA). We describe the clinical features of the disease, which include four domains: autonomic failure/urinary dysfunction, parkinsonism and cerebellar ataxia, and corticospinal dysfunction. We set criteria to define the relative importance of these features. The diagnosis of possible MSA requires one criterion plus two features from separate other domains. The diagnosis of probable MSA requires the criterion for autonomic failure/urinary dysfunction plus poorly levodopa responsive parkinsonism or cerebellar ataxia. The diagnosis of definite MSA requires pathological confirmation.
1,339 citations
TL;DR: In this paper, the authors report the results of a consensus conference on the diagnosis of multiple system atrophy (MSA), which includes four domains: autonomic failure/urinary dysfunction, parkinsonism and cerebellar ataxia, and corticospinal dysfunction.
921 citations
TL;DR: Characteristic glial and/or neuronal cytoplasmic inclusions were identified in all cases in which they were sought, irrespective of clinical presentation, and an association of postural hypotension with intermediolateral cell column degeneration was confirmed.
Abstract: We report the clinicopathological features of 203 cases of pathologically proven multiple system atrophy (MSA) from 108 publications up to February 1995. The majority of patients showed symptoms in their early fifties, and men were more commonly affected than women (ratio of 1.3:1). Most patients suffered from some degree of autonomic failure (74%). Parkinsonism was the most common motor disorder (87%), followed by cerebellar ataxia (54%) and pyramidal signs (49%). The response to levodopa was poor in most patients, but there was a subgroup with a good response, who also often developed axial levodopa-induced dyskinesias. Other characteristic features included severe dysarthria, stridor, and, in a few patients, contractures and dystonia (antecollis). Mild or moderate intellectual impairment occurred in some cases, but severe dementing illness was most unusual. The main pathological change comprised cell loss and gliosis in the putamen, caudate nucleus, external pallidum, substantia nigra, locus ceruleus, inferior olives, pontine nuclei, cerebellar Purkinje cells, and intermediolateral cell columns of the spinal cord. However, other neuronal populations were also involved to varying degrees, such as the thalamus, vestibular nucleus, dorsal vagal nucleus, corticospinal tracts, and anterior horn cells. Characteristic glial and/or neuronal cytoplasmic inclusions were identified in all cases in which they were sought, irrespective of clinical presentation. Akinesia correlated with the degree of nigral and putaminal cell loss, whereas rigidity was related only to the later. Tremor was unrelated to cell loss at any site. Ataxia correlated with the degree of olivopontocerebellar atrophy. Pyramidal signs were associated with pyramidal tract pallor. Our analysis also confirmed an association of postural hypotension with intermediolateral cell column degeneration.
725 citations