Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0030567 (Parkinson's disease)
 63,064 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Dystonias are frequently observed in Parkinson's disease or other parkinsonian syndromes. They can occur during off-periods, either in the morning (early morning dystonia) or during daily off-periods, and during on-periods. Dystonia involves more frequently the upper and lower limbs, the neck or the face. Dystonia can be painful in particular off-period feet dystonia. The mechanisms underlying dystonia are not fully understood, basal ganglia activity and levodopa levels seems to play an important role. There are several medical options to try and improve those dystonias, adjustment of levodopa doses, adding a dopamine agonist drug, anticholinergics, lithium, baclofene or clonazepam. Those options are not always very effective. Botulinum toxin injections are an alternative treatment for focal dystonia. Muscles have to be selected by observation of the dystonia. Deep muscles in particular in the legs can be injected under EMG guidance. Botulinum toxin injections are particularly helpful and safe for lower limb dystonia. They can be used also for other forms of dystonia. Upper limb dystonia can be injected, allowing more comfort and easier hygiene but not necessarily better function, weakness is the main side effect. Cervical dystonia, blepharospam and oromandibular dystonia can be managed the same way as idiopathic dystonia. The dose might be lower since the muscles are usually not as hypertrophic. Side effects are as expected dysphagia and neck weakness in case of cervical dystonia, ptosis, inocclusion and diplopia in case of blepharospasm, jaw opening difficulty with oromandibular dystonia. Basal ganglia surgery can also help dystonia in a selected population of parkinsonian patients.
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PMID:[Parkinsonian dystonia]. 1461 83

Patients with Parkinson's disease (PD) commonly complain of impaired visual function and difficulty reading, despite normal visual acuity. Although previous studies have evaluated contrast sensitivity, color vision, visuospatial processing, visual hallucinations, and ocular movements, none has systematically evaluated the ocular complaints and ocular findings of PD patients. Thirty patients with early untreated PD and 31 control subjects without neurologic or known ocular diseases were ophthalmologically evaluated for the frequency of visual complaints, dry eyes, blepharitis, visual hallucinations, reduced blink rate, blepharospasm, and convergence insufficiency. Ocular complaints suggesting ocular surface irritation, altered tear film, visual hallucinations, blepharospasm, decreased blink rate, and decreased convergence amplitudes were more common in PD patients than in control subjects. These findings likely account for many of the visual difficulties commonly encountered by PD patients. These ocular abnormalities frequently respond to treatment.
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PMID:Ophthalmologic features of Parkinson's disease. 1537 4

A 67-year-old woman with an 8-year history of Parkinson's disease and Lewy body dementia experienced difficulty in opening her eyelids (apraxia of lid opening [ALO]); she could close them without difficulty. This problem emerged 2 weeks after the patient's dosage of carbidopa 50 mg-levodopa 200 mg 3 times/day was decreased to twice/day. Two weeks after the onset of ALO the patient visited her physician, who suspected carbidopa-levodopa of causing the problem; the drug was discontinued. When the patient's condition worsened rather than improved, she was referred to a neuro-ophthalmologist, who confirmed the diagnosis of ALO. However, the neuro-ophthalmologist noted that this may not have been a true apraxia but rather a form of sustained blepharospasm that prevented the eyelid from opening. Carbidopa-levodopa was restarted, and her condition improved dramatically when her dosage was increased gradually to carbidopa 50 mg-levodopa 200 mg in the morning and at noon, and carbidopa 25 mg-levodopa 100 mg in the evening. Clinicians should be aware of adverse reactions, such as AOL, in patients taking carbidopa-levodopa who have dementia of the Lewy body type.
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PMID:Apraxia of lid opening: dose-dependent response to carbidopa-levodopa. 1504 Jun 54

In 1987, Miyajima et al. first characterized an autosomal recessive, adult-onset neurodegenerative disorder resembling Parkinson's disease associated with near-absent circulating serum ceruloplasmin levels. Coined "familial apoceruloplasmin deficiency", they described a patient with a presenting triad of diabetes mellitus, retinal degeneration, and neurodegeneration with blepharospasm. Neuropathological evaluation revealed abundant iron deposition in selected neurons of the basal ganglia and substantia nigra with associated neuronal dropout and spongioform degeneration without evidence of reactive gliosis. Subsequently, mutations in the ceruloplasmin gene have been determined to result in the excessive iron accumulation seen in the pancreas, retina, and brain. Elevated serum ferritin suggests a systemic iron overload syndrome, yet affected patients had low transferrin saturation and a mild anemia. This new disease, "aceruloplasminemia", reveals a role for ceruloplasmin as an essential ferroxidase critical for iron homeostasis. This multicopper oxidase promotes efficient iron efflux such that individuals lacking ceruloplasmin develop a presumed oxidative injury secondary to iron accumulation and significant neuronal damage. Aceruloplasminemic mice provide a valuable model to further study the mechanisms by which ceruloplasmin regulates iron trafficking and the role of iron in oxidative injury. Despite the dependence of ceruloplasmin on copper for its function, aceruloplasminemia represents an iron storage disease and not a defect in copper metabolism. However, recent evidence in Saccharomyces cerevisiae indicates that Fet3, the yeast homologue of ceruloplasmin, functions as an essential cuprous oxidase. Further investigation into the mechanisms by which ceruloplasmin regulates iron and copper homeostasis will provide valuable insight into the pathogenesis of metallo-mediated diseases and elucidate mechanisms for transition metal (copper, iron) neuropathology.
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PMID:Aceruloplasminemia: an inherited neurodegenerative disease with impairment of iron homeostasis. 1510 74

The liability to develop parkinsonian symptoms was evaluated in 105 outpatients with idiopathic blepharospasm (IBS; 54 cases) or IBS associated to oromandibular dystonia (Meige's syndrome; 51 cases) mean age 70.3 +/- 9.6 years, and compared with an age- and sex-matched population. Eleven patients developed Parkinson's disease in the blepharospasm group, whereas only 2 of 105 patients were affected in the control group. Our results suggest that patients with IBS either isolated or associated with oromandibular dystonia are more prone to develop parkinsonian symptoms.
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PMID:Development of Parkinson's disease in patients with blepharospasm. 1537 98

The identification of Mendelian mutations in rare forms of familial Parkinson's disease (PD) have provided significant insights into the molecular pathogenesis of this common complex disorder. DJ-1 is the third of four genes known to be definitively causal in familial PD, the three others being alpha-synuclein, parkin and the recently identified PINK1. Mutations in the DJ-1 gene were identified in two European families, a Dutch kindred harbouring a large homozygous genomic deletion encompassing exons 1-5 of the gene and an Italian kindred with a homozygous L166P missense mutation. The clinical phenotype of the two families was similar to that of parkin cases. Age of onset was in the mid-thirties with good responsiveness to l-dopa and slow disease progression. Focal dystonias and blepharospasm were also evident as were behavioural disturbances early in the course of the disease. To date, there are no studies of pathological material from known DJ-1 patients. It therefore remains to be determined whether these patients form Lewy bodies and/or Lewy neurites, the eosinophilic fibrillary inclusions that contain predominantly alpha-synuclein and that are the pathological hallmark of PD.
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PMID:Causes of Parkinson's disease: genetics of DJ-1. 1550 54

Dystonia can occasionally be found in idiopathic Parkinson's disease. It is very uncommon in untreated patients and is more frequently seen as a complication of its treatment. In this review, the various types of dystonia occurring in PD, the differential diagnosis with other parkinsonian syndromes associated with dystonia and treatments available are revised. Dystonia unrelated to treatment can be typical (blepharospasm, torticollis), atypical (parkinsonian writer's cramp, camptocormia, anismus), or occurring in earlyonset Parkinson disease (the so-called kinesigenic foot dystonia, considered a hallmark of early-onset Parkinson's disease). Early and prominent dystonia in untreated patients with parkinsonism should raise the suspicion of other entities other than Parkinson's disease, such as progressive supranuclear palsy, multiple system atrophy or corticobasal degeneration. In patients on chronic dopaminergic treatment, peak-dose dystonia, diphasic dystonia and off-dystonia can be seen. The later constitutes the major dystonic feature of chronic levodopa therapy, and a wide variety of strategies are available to manage this complication. Among them, deep brain stimulation of the subthalamic nucleus has proved to be the most effective one. Dystonic reactions (mainly involving oculomotor cranial nerves and limbs) in operated patients (especially carriers of deep brain stimulation (DBS) devices) are increasingly being reported, constituting a new type of dystonia in patients with Parkinson's disease: dystonia linked to surgical treatment.
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PMID:Dystonia in Parkinson's disease. 1713 Dec 31

Substantial evidence indicates that neuroactive kynurenine metabolites play a role in the normal physiology of the human brain, and are involved in the pathology of neurodegenerative disorders such as Parkinson's disease and Huntington's disease. A side-arm product of the pathway, kynurenic acid (KYNA), which is synthesized by the irreversible transamination of kynurenine (KYN) by kynurenine aminotransferases (KAT I and KAT II), is an excitatory amino acid receptor antagonist. In the present study, we measured the level of KYNA and the activities of the biosynthetic enzyme isoforms KAT I and KAT II in the plasma and in the erythrocytes (RBCs) of patients with cervical dystonia or blepharospasm and in age-matched controls. The KAT I and KAT II activities were significantly lower in the plasma of the patients in both subgroups. In the RBCs, only the KAT I activity was elevated significantly. The KYNA concentration was unchanged in both type of patients. These data support the contribution of an altered kynurenine metabolism to the pathogenesis of focal dystonia.
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PMID:Peripheral kynurenine metabolism in focal dystonia. 1750 1

Botulinum toxins are an effective treatment modality for a growing number of neurologic conditions. Although there has been varied interest and success in their use, they have been studied for a variety of conditions associated with Parkinson's disease. Conditions reviewed in this paper include hand and jaw tremor, dystonia, blepharospasm and apraxia of eyelid opening, bruxism, camptocormia, freezing of gait, sialorrhea and constipation. We will make comments when applicable on our unique experience with botulinum toxin in these conditions. Other conditions associated with Parkinson's disease, which will not be reviewed here, but may benefit from botulinum toxin treatment include anterocollis (also known as dropped head syndrome), hyperhidrosis, seborrhea and overactive bladder.
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PMID:Botulinum toxin in the treatment of tremors, dystonias, sialorrhea and other symptoms associated with Parkinson's disease. 1756 47

Botulinum toxin (BoNT) has been used for over a quarter of century for the treatment of well over 100 different indications. Many of the symptoms for which BoNT has been found to be effective occur in a variety of neurological disorders. One neurodegenerative disorder in which BoNT has been used extensively to treat various symptoms is Parkinson's disease (PD). This review will highlight the following therapeutic applications of BoNT in conditions associated with PD: limb dystonia, blepharospasm and lid apraxia, bruxism, cervical dystonia (anterocollis), camptocormia, hand and jaw tremor, rigidity (painful shoulder), freezing of gait, sialorrhea, dysphagia (achalasia), seborrhea, hyperhidrosis, overactive bladder, and constipation.
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PMID:Disease-oriented approach to botulinum toxin use. 1907 3


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