196,940 research outputs found
Epidemiology of primary and secondary dystonia
No full textDuring the last decade, dystonia has been increasingly recognized. However, the body of work concerning the epidemiology of this condition is not extensive. In the past, barriers to epidemiologic study have included perceptions that dystonia is rare and associated with relatively low morbidity. In addition, the absence of validated diagnostic markers for dystonia has limited the careful classification of subjects with this hyperkinetic movement disorder. A further difficulty has arisen because dystonia is a heterogeneous condition that is classified according to the age of onset (early-and late-onset dystonia), body distribution (focal, segmental, multifocal, generalized, and hemidystonia), and etiology (primary and secondary dystonia) (1). Lastly, the evolution of numerous molecular and clinical subtyping systems has lead to some variation in neurologist attitudes in the recognition and treatment of dystonia (2)
Do primary adult-onset focal dystonias share aetiological factors?
No full textTo consider whether the various clinical types of primary late-onset dystonia have a common aetiological background, or are each distinct and separate entities, sharing only the clinical appearance of dystonia, we reviewed epidemiological, clinical, neurophysiological and imaging data reported in patients with different forms of primary late-onset dystonia. The epidemiological and clinical features that distinguished the various clinical types and suggest aetiological differences were prevalence, age of onset, sex preference, sensory tricks, and tendency to spread. Likewise, aetiological differences were also supported by the observation that environmental risk factors possibly triggering focal dystonias in predisposed subjects can differ from one form to the other. The fact that different forms of focal dystonia may coexist in the same individual as the result of spread nevertheless suggests that the various focal dystonias are related. Detailed examination of available familial and genetic data indicates that the different forms of primary late-onset dystonia share aetiological factors, most probably genetic. Neurophysiological and imaging studies have demonstrated a number of abnormalities in focal dystonias and some of these are shared by the different clinical types. The shared abnormality of sensorimotor integration (and cortical excitability) beyond the symptomatic body part identified in various clinical types and in unaffected relatives might reflect the genetic abnormality indicating the substrate on which the dystonia develops
How pain arises in Parkinson's disease
No full textIn recent years, increasing attention has centred on pain in Parkinson's disease (PD). Pain in PD is heterogeneous in quality and body distribution. To clarify how the various pain types relate to PD and to propose plausible treatment strategies, in this paper we reviewed psychophysical, neurophysiological and imaging data reported in parkinsonian patients with and without pain. Most available evidence supports abnormal central nociceptive input processing that probably reflects an impairment in the lateral and medial pain pathways. Changes in central pain processing probably underlie all the different pain types and also intervene in patients with PD without pain. Thus, altered pain processing might predispose patients with PD to spontaneous pain that is variable in quality. These background pain-processing abnormalities may interact with additional factors (such as contractures secondary to marked rigidity/bradykinesia, dystonia and medical conditions associated with painful symptoms), thus causing pain to manifest itself clinically in various ways and providing candidate targets for pain treatment in PD. © 2013 The Author(s) European Journal of Neurology © 2013 EFNS
Facial bradykinesia
No full textThe aim of this paper is to summarise the main clinical and pathophysiological features of facial bradykinesia in Parkinson's disease (PD) and in atypical parkinsonism. Clinical observation suggests that reduced spontaneous and emotional facial expressions are features of facial bradykinesia in PD and atypical parkinsonism. In atypical parkinsonism, facial bradykinesia is complicated by additional dystonic features. Experimental studies evaluating spontaneous and emotional facial movements demonstrate that PD is characterised by a reduction in spontaneous blinking and emotional facial expression. In PD, neurophysiological studies show that voluntary orofacial movements are smaller in amplitude and slower in velocity. In contrast, movements of the upper face (eg, voluntary blinking) are normal in terms of velocity and amplitude but impaired in terms of switching between the closing and opening phases. In progressive supranuclear palsy (PSP), voluntary blinking is not only characterised by a severely impaired switching between the closing and opening phases of voluntary blinking, but is also slow in comparison with PD. In conclusion, in PD, facial bradykinesia reflects abnormalities of spontaneous, emotional and voluntary facial movements. In PSP, spontaneous and voluntary facial movements are abnormal but experimental studies on emotional facial movements are lacking. Data on facial bradykinesia in other atypical parkinsonism diseases, including multiple system atrophy and corticobasal degeneration, are limited. In PD, facial bradykinesia is primarily mediated by basal ganglia dysfunction whereas in PSP, facial bradykinesia is a consequence of a widespread degeneration involving the basal ganglia, cortical and brainstem structures.Matteo Bologna, Giovanni Fabbrini, Luca Marsili, Giovanni Defazio, Philip D Thompson, Alfredo Berardell
The epidemiology of pain in Parkinson's disease
No full textPain occurring in Parkinson's disease (PD) may affect a large proportion of patients. Based on the results of the methodologically more robust case-control studies that detected a significantly greater frequency of pain in PD patients than in control subjects, pain should now be considered as a non-motor symptom of PD. The heterogeneous quality of pain, the variable relationship of pain with parkinsonian motor signs, and the mixed response of pain to dopaminergic drugs suggest complex mechanisms for pain in PD. Some evidence raises the possibility of common mechanisms shared by pain patients, regardless of the clinical heterogeneity of pain and its variable relationship with motor signs
Frequency of apraxia of eyelid opening in the general population and in patients with extrapyramidal disorders
No full textWe ascertained the prevalence of apraxia of eyelid opening (AEO) in a community located in Puglia, a region of southern Italy. The crude prevalence rate was 59 per million (95% confidence interval, 24–173). AEO coexisted with adult onset blepharospasm in 75% of cases, with atypical parkinsonism in 25% of cases. Among the overall patient population seen at our movement disorders clinic from 1987 to 1997, AEO was isolated in 10 otherwise healthy individuals, associated with adult-onset dystonia in 13 cases, and associated with a parkinsonian syndrome in 9 cases. The frequency of AEO was 10.8% in the dystonia group, and 2.1% in the overall parkinsonian group (Parkinson's disease, 0.7%; progressive supranuclear palsy, 33.3%). In two patients with possible progressive supranuclear palsy, AEO worsened after increasing levodopa dosage or acute apomorphine challenge and disappeared following levodopa discontinuation. AEO developing in the setting of a parkinsonian syndrome may be either disease- or drug-related
Efficacy and safety of the 5-Hydroxytryptophan on Depression and Apathy in Idiopathic Parkinson's disease
No full textL-Dopa Related Hyperhomocysteinemia: A Possible Mediator of Toxicity?.
No full textL-dopa is the most effective drug in the symptomatic management of PD and extends the life span of PD patients.The question whether L-dopa is neurotoxic remains however unresolved. In recent years, increased Homocysteine (Hcy) levels have been observed in L-dopa treated Parkinson's disease (PD) patients, resulting from L-dopa O-methylation by the enzyme catechol-O-methyltransferase. This review summarizes current evidences supporting the possible role of Hcy as mediator of L-dopa toxicity mainly on dopaminergic neurons
Development and validation of a clinical guideline for diagnosing blepharospasm
No full textObjective: To design and validate a clinical diagnostic guideline for aiding physicians in confirming or refuting suspected blepharospasm. Methods: The guideline was developed and validated in a 3-step procedure: 1) identification of clinical items related to the phenomenology of blepharospasm, 2) assessment of the relevance of each item to the diagnosis of blepharospasm, and 3) evaluation of the reliability and diagnostic sensitivity/specificity of the selected clinical items. Results: Of 19 clinical items initially identified, 7 were admitted by content validity analysis to further assessment. Both neurologists and ophthalmologists achieved satisfactory interobserver agreement for all 7 items, including "involuntary eyelid narrowing/closure due to orbicularis oculi spasms," "bilateral spasms," "synchronous spasms," "stereotyped spasm pattern," "sensory trick," "inability to voluntarily suppress the spasms," and "blink count at rest." Each selected item yielded unsatisfactory accuracy in discriminating patients with blepharospasm from healthy subjects and patients with other eyelid disturbances. Combining the selected items, however, improved diagnostic sensitivity/specificity. The best combination, yielding 93% sensitivity and 90% specificity, was an algorithm starting with the item "stereotyped, bilateral, and synchronous orbicularis oculi spasms inducing eyelid narrowing/closure" and followed by recognition of "sensory trick" or, alternatively, "increased blinking." Conclusion: This study provides an accurate and valid clinical guideline for diagnosing blepharospasm. Use of this guideline would make it easier for providers to recognize dystonia in clinical and research settings. © 2013 American Academy of Neurology
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