Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0040822 (tremor)
 18,428 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Three aged patients (age 63-78 years) had 3-15-year histories of abnormal behaviors during nocturnal sleep. These three patients presented no other psychiatric problems. Polysomnographic recordings were carried out from 1-3 nights after adaptation. The patients were simultaneously monitored via a video system during the recording period. Various nocturnal behaviors, including laughing, weeping, the shaking of arms and getting up were detected during these recordings. These behaviors appeared exclusively during REM periods which were associated with a large amount of abnormal REM sleep lacking muscle atonia (d-STREM with EMG). NREM sleep architecture was intact and %SWS was within the normal limits per age for all the patients. The patients, manifesting such abnormal behaviors during sleep, could be aroused completely with awakening stimuli, and could recall in detail their unpleasant dreams. Two of the three were treated with clonazepam (0.5-1 mg/day) which immediately decreased the abnormal behaviors during sleep. Polysomnographic studies after the treatment showed a marked decrease in the d-STREM with EMG. The above results indicate that these abnormal behavior during nocturnal sleep were closely linked to d-STREM with EMG. And the administration of clonazepam not only led to an amelioration in the abnormal behaviors but also in the polysomnographic pathology. It is concluded that parasomnia in the aged is characterized by behavioral manifestations of the dreaming due to dysfunctions of the muscle atonia system.
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PMID:[Parasomnia associated with abnormal REM sleep in the aged]. 237 83

The clinical features and natural history of 100 patients diagnosed as probable multiple system atrophy (MSA) are described. In all 14 (of 41 deceased) cases who underwent post-mortem examination of the brain, the diagnosis was confirmed pathologically, providing some validation of the clinical diagnostic criteria used. There were 67 men and 33 women. Median age at onset (at time of first reported symptom) was 53 (range 33-76) years. Autonomic symptoms were the initial feature in 41% of the patients, but had subsequently developed in 97% at latest follow-up. The most frequent autonomic symptom in men was impotence, and in women was urinary incontinence. Symptomatic orthostatic hypotension, although present in 68%, was severe in only 15% of patients. Parkinsonism was the initial feature in 46%, but had subsequently developed in 91% of subjects at latest follow-up. It was the predominant motor disorder [striatonigral degeneration (SND) type] in 82% of the patients, and was usually asymmetric (74%). Although akinesia and rigidity predominated, tremor was present at rest in 29% of patients, but in only 9% had a classical pill-rolling parkinsonian rest tremor been recorded. Twenty-nine percent of MSA patients had a good or excellent levodopa response at some stage. However, only 13% maintained this response. Prominent orofacial dyskinesias and dystonias occurred in a quarter of treated patients with MSA. Early onset (before age 49 years) MSA patients tended to have a good levodopa response. Cerebellar symptoms or signs were the only initial feature in 5%. Although subsequently developing in a further 47% of cases, in only 18% was a cerebellar syndrome the only (9%) or predominant (9%) motor disorder [olivopontocerebellar (OPCA) type]. Pyramidal involvement at latest follow-up was noted in 61% of all cases. In a further seven patients the initial features involved more than one system, and one other had presented as a parasomnia. Multiple system atrophy of the OPCA type most commonly presented with gait ataxia. Tremor, pyramidal signs and myoclonus were less common than in MSA of the SND type. Cerebellar signs were present in 42% of patients with MSA of the SND type and parkinsonian signs in 50% of patients with MSA of the OPCA type. Disease progression was faster than in idiopathic Parkinson's disease, so that > 40% of patients were markedly disabled or wheelchair bound within 5 years of onset of motor disturbance. Median survival of the whole group as calculated by Kaplan-Meier analysis was 9.5 years.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Clinical features and natural history of multiple system atrophy. An analysis of 100 cases. 792 69

Heterozygous mutations in the glucocerebrosidase (GBA) gene have been reported as a common risk factor for the development of Parkinson's disease (PD) in Gaucher disease (GD) patients and in heterozygous GBA mutation positive carriers. In this study, we analyzed the occurrence of prodromal markers of PD in an Argentinean cohort with type 1 GD. After signed informed consent, we evaluated 26 patients with type 1 GD under enzymatic replacement therapy from a cohort of the Hospital Ricardo Gutierrez GD Study Group in Buenos Aires City, Argentina. We performed an extensive neurological examination, including cognitive assessment by Montreal Cognitive Assessment (MoCA) and a questionnaire performed ad hoc, to identify non-motor PD symptoms. Parasomnias were reported by 7 patients (26.92%), rapid eye movement behavior disorders in 2 (7.69%), constipation in 2 (7.69%), hyposmia in 1 (3.84%), tremor in 1 (3.84%), and depression in 3 cases (11.53%). MoCA assessment was abnormal in 44.44% of patients. No patient fulfilled PD diagnostic criteria (Queen Square Brain Bank criteria). The identification of prodromal markers of PD in type 1 GD suggests that this population represents a very interesting cohort for identifying potential biomarkers and neuroprotective therapies for PD.
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PMID:Prodromal Clinical Markers of Parkinson disease in Gaucher Disease Individuals. 2734 56

REM sleep behavior disorder (RBD) is a parasomnia wherein a loss of REM sleep atonia manifests as dream-enactment, often violent. Aside from its significance as a predictor of PD, RBD in PD may imply more than merely screaming at night and experiencing sleep fragmentation. To probe its significance as a prognostic factor in PD, we performed a systematic literature review. Analysis of prospective studies reveals baseline RBD confers a higher risk of developing dementia and hallucinations. In cross-sectional studies, RBD is associated with the non-tremor predominant motor phenotype and autonomic dysfunction. Clinical, imaging, and autopsy studies support the presence of dense and diffuse pathology extending beyond the brainstem in PD with RBD. As RBD in PD is associated with a greater disease burden and an increased risk of mortality, we propose the RBD subtype in PD to highlight that RBD may mark a distinct subtype with relatively poor prognosis.
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PMID:REM sleep behavior disorder portends poor prognosis in Parkinson's disease: A systematic review. 2910 36

Parkinson's disease (PD) is an alpha-synucleinopathy that leads to prominent motor symptoms including tremor, bradykinesia, and postural instability. Nonmotor symptoms including autonomic, neurocognitive, psychiatric symptoms, and sleep disturbances are also seen frequently in PD. The impact of PD on sleep is related to motor and nonmotor symptoms, in addition to the disruption of the pathways regulating sleep by central nervous system pathology. Rapid eye movement sleep behavior disorder is a parasomnia that can lead to self-injury and/or injury to partners at night. Restless legs syndrome is a subjective sensation of discomfort and urge to move the legs prior to falling asleep and can lead to insomnia and reduced sleep quality. Excessive daytime sleepiness is common in PD and exerts a negative impact on quality of life in addition to increasing the risk of falls. Obstructive sleep apnea is a breathing disorder during sleep that can cause frequent awakenings and excessive daytime sleepiness. Circadian rhythm dysfunction can lead to an advanced or delayed onset of sleep in patients and create disruption of normal sleep and wake times. All of these disorders are common in PD and can significantly reduce sleep quantity, sleep quality, or quality of life for patients and caretakers. Treatment approaches for each of these disorders are distinct and should be individualized to the patient. We review the literature regarding these common sleep issues encountered in PD and their treatment options.
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PMID:Sleep Issues in Parkinson's Disease and Their Management. 3302 23