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

Fragile X syndrome (FXS) is the most common cause of inherited intellectual disability and the leading form of the monogenic cause of autism. Fragile X mental retardation type 1 (FMR1) gene premutation is the first single-gene cause of primary ovarian failure (Fragile X-associated primary ovarian insufficiency [FXPOI]) and one of the most common causes of ataxia (fragile X-associated tremor/ataxia syndrome [FXTAS]), multiple additional phenotypes such as fibromyalgia, hypothyroidism, migraine headaches, sleep disturbances, sleep apnea, restless legs syndrome, central pain syndrome, neuropathy and neuropsychiatric alterations has been described. Clinical involvement in men and women carrying the FMR1 premutation currently constitutes a real health problem in the society that should be taken into account. It is important to highlight that while in FXS there is a loss-of-function of the FMR1 gene, in premutation associated disorders there is a gain of FMR1 mRNA function. To date, the tremendous progress achieved in the understanding of the pathophysiology of FXS, has led to the development of several targeted therapies aimed at preventing or improving the neurological manifestations of the disease. This review is an update of the diseases associated with the FMR1 gene.
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PMID:Fragile X syndrome: An overview and update of the FMR1 gene. 2861 38

The therapeutic applications of botulinum toxin (BoNT) have grown manifold since its initial approval in 1989 by the US Food and Drug Administration (FDA) for the treatment of strabismus, blepharospasm, and other facial spasms. Although it is the most potent biologic toxin known to man, long-term studies have established its safety in the treatment of a variety of neurologic and non-neurologic disorders. This review focuses on some novel and uncommon uses of BoNT in the treatment of movement disorders, such as oromandibular dystonia, including bruxism, anterocollis, camptocormia, tremor, tics, tardive and levodopa-induced dyskinesia, and restless legs syndrome. Despite a paucity of randomized controlled trials and lack of FDA approval for these movement disorders, there is growing body of evidence that BoNT provides benefit to patients with these hyperkinetic movement disorders and that BoNT is a safe treatment when used by clinicians skilled in the administration of the drug for these conditions.
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PMID:An update on new and unique uses of botulinum toxin in movement disorders. 2888 28

Movement disorders such as Parkinson's disease (PD), restless legs syndrome (RLS), chorea, essential tremor, and Tourette syndrome, occur in men and women of all ages. Yet, considerable sex differences in epidemiology, clinical features, and treatment exist in these disorders. In this review, we highlight key differences in the evaluation and management of women with movement disorders, addressing sex-specific complications of treatment and unique challenges surrounding the management of movement disorders during pregnancy. We review the complex relationship between estrogen and movement disorders, including the putative neuroprotective effects of estrogen in PD and the modulatory effects on RLS and chorea associated with autoimmune disease. Further understanding of sex-specific and hormonal effects on clinical features will be important to optimize the management of women with movement disorders in the future.
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PMID:Movement Disorders in Women. 2927 Sep 38

Mitochondrial disease presents with a wide spectrum of clinical manifestations that may appear at any age and cause multisystem dysfunction. A broad spectrum of movement disorders can manifest in mitochondrial diseases including ataxia, Parkinsonism, myoclonus, dystonia, choreoathetosis, spasticity, tremor, tic disorders and restless legs syndrome. There is marked heterogeneity of movement disorder phenotypes, even in patients with the same genetic mutation. Moreover, the advent of new technologies, such as next-generation sequencing, is likely to identify novel causative genes, expand the phenotype of known disease genes and improve the genetic diagnosis in these patients. Identification of the underlying genetic basis of the movement disorder is also a crucial step to allow for targeted therapies to be implemented as well as provide the basis for a better understanding of the molecular pathophysiology of the disease process. The aim of this review is to discuss the spectrum of movement disorders associated with mitochondrial disease.
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PMID:Movement disorders in mitochondrial disease. 2930 8

A 57-year-old woman had been suffered from insomnia due to restlessness and abnormal sensation of the left side of the body for 33 years. Since the preceding year of the first visit frequency of the symptoms increased, and the abnormal sensation was spread to the right leg. Her daughter had restless legs syndrome (RLS) since age 20. Neurological examination showed no abnormality. Laboratory test results showed normal ferritin levels. There was no renal dysfunction or anemia. A diagnosis of RLS was made, and her symptoms responded well to pramipexole treatment. However, the patient developed right shoulder pain and right-hand tremor one year and one and a half year after the first visit, respectively. Based on clinical findings and the findings of dopamine transporter scan and cardiac 123I-MIBG scintigraphy, the patient was diagnosed with Parkinson's disease (PD). Careful observation of changes in RLS symptoms is required as an increased frequency and spread of symptoms of RLS could be the early manifestation of PD.
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PMID:[Increased frequency and spread of restlessness as the early manifestation of Parkinson's disease in a woman with restless legs syndrome]. 3027 Mar 36

Hyperkinetic movement disorders include tremors, dystonia, chorea, tics, myoclonus, stereotypies, restless legs syndrome, and various other disorders with abnormal involuntary movements. Although several disorders could be included in such a broad spectrum, a limited number of conditions are modeled in non-human primates. These disabling conditions include notably L-dopa-induced dyskinesia in Parkinson's disease, tardive dyskinesia, essential tremor and Huntington's disease. Non-human primate models of these conditions exist. This short opiniated review surveys the current state of use of these models as well as the future developments.
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PMID:Models of hyperkinetic disorders in primates. 3185 31

Sleep disorders are frequent in patients diagnosed with essential tremor (ET). The present review focuses on sleep disorders and the results of polysomnographic studies performed in patients with ET. For this purpose we performed a systematic review crossing the search term "essential tremor" with "sleep," "sleep disorders," "sleep disturbances" and "polysomnography," and with specific sleep disorders, according to the International Classification of the Sleep Disorders-Third Edition, using the PubMed, EMBASE, MEDLINE, and Web of Science Databases. The most frequent sleep problems reported by patients with ET were the bad quality of sleep and excessive daytime somnolence (the latter could be related to drugs commonly used for the treatment of ET). Probable rapid eye movement sleep behavior disorder, coexistent restless legs syndrome, insomnia, and nocturia were not infrequent complaints, while the presence of other sleep disorders in patients with ET was restricted to anecdotal reports or not described. Meta-analyses of previous reports showed that patients with ET (according to the PRISMA and MOOSE guidelines) showed higher scores in the Pittsburgh Sleep Quality Index and the Epworth Sleepiness Scale than controls and lower scores than those of patients diagnosed with Parkinson's disease. Studies using polysomnography in patients with ET are scarce and do not permit to establish valid conclusions regarding polysomnographic features in this disorder.
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PMID:Sleep disorders in essential tremor: systematic review and meta-analysis. 3216 85

Movement disorders in women during pregnancy are uncommon. Therefore, high quality studies are limited, and guidelines are lacking for the treatment of movement disorders in pregnancy, thus posing a significant therapeutic challenge for the treating physicians. In this chapter, we discuss movement disorders that arise during pregnancy and the preexisting movement disorders during pregnancy. Common conditions encountered in pregnancy include but are not limited to restless legs syndrome, chorea gravidarum, Parkinson disease, essential tremor, and Huntington disease as well as more rare movement disorders (Wilson's disease, dystonia, etc.). This chapter summarizes the published literature on movement disorders and pharmacologic and surgical considerations for neurologists and physicians in other specialties caring for patients who are pregnant or considering pregnancy.
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PMID:Movement disorders in pregnancy. 3276 90

Pramipexole was first manufactured by Pharmacia and Upjohn in July 1997 under the United States brand names of Mirapex and Mirapex ER. Pramipexole is classified as a nonergoline aminobenzothiazole compound that selectively agonizes the dopamine D2-like receptor subfamily, which includes the D2, D3, and D4 receptor subtypes. Pramipexole is a unique compound in its therapeutic potential because it has D3-preferring properties. The D3 receptor target has implications in both motor and psychiatric symptoms of Parkinson's disease, restless leg syndrome, and bipolar and unipolar depression. Currently, pramipexole is approved to treat signs and symptoms of idiopathic Parkinson's disease and moderate to severe symptoms of primary restless leg syndrome. Parkinson's disease is characterized by tremor, bradykinesia, rigidity, gait disorders, and a disturbance of posture due to a decrease in dopamine stores in the substantia nigra with the consequent presence of Lewy bodies. Restless leg syndrome is a neurologic sensorimotor disorder characterized by a compelling urge to move the body/limb to relieve this uncomfortable sensation. In this Review, we will discuss the synthesis, drug metabolism, pharmacology, adverse effects, history, and the importance of pramipexole to neuroscience and describe its role in therapy.
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PMID:Classics in Chemical Neuroscience: Pramipexole. 3278 16

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


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