Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0008489 (chorea)
 2,102 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Degenerative diseases of the basal ganglia are commonly complicated by dysphagia. In 35 patients with Huntington's disease (HD), a hereditary neurodegenerative basal ganglia disease characterized by chorea, dementia, and emotional changes, an extensive battery of clinical and radiologic procedures helped to identify numerous abnormalities of deglutition. The results permitted the classification of our patients with HD into hyperkinetic (HD-h) or rigid-bradykinetic (HD-rb) groups. Although the two groups share multiple abnormalities, statistically significant intergroup differences were observed. Clinical assessment of the HD-h cohort (30 patients) demonstrated rapid lingual chorea, swallow incoordination, repetitive swallows, prolonged laryngeal elevation, inability to stop respiration, and frequent eructations. In the HD-rb group (five patients), frequently observed abnormalities included mandibular rigidity, slow lingual chorea, coughing on foods, and choking on liquids. Videofluoroscopic swallowing studies (VFSS) using a variety of barium-impregnated foods and liquids confirmed the abnormalities noted on the clinical assessment. Respiratory and laryngeal chorea, pharyngeal space retention, and aspiration were also identified. Numerous compensatory techniques introduced during videofluoroscopy benefited all patients.
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PMID:Dysphagia in Huntington's disease: a 16-year retrospective. 153 61

Chorea gravidarum is a rare maternal complication during pregnancy. Like the better known chorea minor it shows extrapyramidal symptoms with involuntary movements, lack of coordination, slurred speech and psychic disorders. The neurological state is normal except for a loss of muscle tone. The symptoms most commonly begin in the first trimester of pregnancy and usually resolve spontaneously after 2-3 months. The maternal mortality lies below 1%. In the case of subjectively disturbing symptoms anticonvulsive and sedative therapy with benzodiazepine or neuroleptics may be indicated. Etiological factors including rheumatic fever, chorea minor, hormonal, psychic and autoimmune disorders are discussed. Elective termination of the pregnancy is not indicated. The presented case report shows a chorea-like situation beginning in the ninth week of pregnancy.
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PMID:[Chorea gravidarum]. 176 Dec 37

Huntington's disease (HD) is an autosomal dominant inherited disorder of the central nervous system. Consequently, a child of an affected parent has a 50% risk of developing the disease. This article provides an overview of HD by providing a brief history of the disease and describing progressive symptoms of chorea, dystonia, incoordination and decreased mental acuity. Steps in diagnosis, treatment and prognosis are outlined. Because persons at risk for HD have usually witnessed the deterioration of an HD parent, they are often dominated by fears of developing HD themselves. Life's choices, such as whether or not to have children, then become dilemmas. The importance of maintaining a positive life perspective, while making practical choices about employment, marriage, children and other concerns needs to be addressed.
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PMID:Learning to live at risk for Huntington's disease. 183 83

The effects of centrally and peripherally active anti-cholinergic agents were investigated in four patients with Huntington's disease. Scopolamine reduced chorea, increased incoordination, induced sedation, and produced confusion. Benztropine produced similar but milder effects. A peripheral anticholinergic, glycopyrrolate, had no effect. These results, combined with previous studies, indicate that cholinergic agonists and antagonists that produce sedation may reduce chorea without improving coordination, and suggest that this antichoreic action is independent of their cholinergic actions.
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PMID:Effect of cholinergic agents in Huntington's disease: a reappraisal. 622 36

This is the first reported case of dystonia with a partial deletion of the long arm (q) of chromosome 18. Neurologic findings in the 18q- syndrome include mental retardation, seizures, nystagmus, incoordination, tremor, and chorea. A 36-year-old woman with an 18q terminal deletion [karyotype 46,XX,del(18)(q22.2)] had hypothyroidism, diabetes mellitus, borderline intelligence, short stature, short neck, sensorineural hearing loss, and sensorimotor axonal neuropathy. Parents' karyotypes were normal. She had had incoordination and writing difficulty since childhood. Posturing and tremor of the head began at age 16, followed by arm tremors. She had jaw deviation and tremor, neck tremor with retrocollis, involuntary pronation of the right arm, coarse postural and severe action tremor, and tight pen grip with dystonic wrist extension on writing. The 18q- syndrome should be added to the list of genetic causes of secondary dystonia. A karyotype analysis should be considered in secondary dystonias, particularly when there are associated features such as short stature and endocrinopathies.
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PMID:Dystonia in a patient with deletion of 18q. 756 32

We report a case of dystonia with a partial deletion of the short arm (p) of chromosome 18 and androgen insensitivity. Neurologic findings in the 18p syndrome are reported to include mental retardation, seizures, incoordination, tremor, and chorea. A 15-year-old girl with a denovo 18p deletion [karyotype 46, XY, del (18)(p11.1)] developed progressive asymmetric dystonia. She had oromotor apraxia and partial expressive aphasia since childhood, and she was able to partially communicate through elementary sign language. At the age of 15 years, she developed subacute and progressive choreic movements of the right arm, severe dystonic posturing of the left arm, and spastic dystonia in both legs. Her response to parenteral or oral benzodiazepines, oral trihexyphenidyl, benztropine mesylate, baclofen, and L-dopa were brief and inadequate. The response to intrathecal baclofen has been sustained over 18 months. In all likelihood, the 18p deletion syndrome affecting this patient is significant in the pathogenesis of her acquired dystonia. Chronic intrathecal baclofen therapy via pump has been effective in this case and should be considered as a treatment modality in carefully selected patients with dystonia.
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PMID:Progressive dystonia in a child with chromosome 18p deletion, treated with intrathecal baclofen. 1007 26

There is nothing more discouraging than for a patient to be given a specific diagnosis, then to be told that there is nothing that can be done. Physicians are equally disheartened to see exponential progress being made in the understanding of the pathophysiology of a complex disorder but few direct benefits resulting for their patients. Over the past 5 years, molecular genetic research has completely revolutionized the way in which the progressive cerebellar ataxias are classified and diagnosed, but it has yet to produce effective gene-based, neuroprotective, or neurorestorative therapies. The treatment of cerebellar ataxia remains primarily a neurorehabilitation challenge, employing physical, occupational, speech, and swallowing therapy; adaptive equipment; driver safety training; and nutritional counseling. Modest additional gains are seen with the use of medications that can improve imbalance, incoordination, or dysarthria (amantadine, buspirone, acetazolamide); cerebellar tremor (clonazepam, propranolol); and cerebellar or central vestibular nystagmus (gabapentin, baclofen, clonazepam). Many of the progressive cerebellar syndromes have associated features involving other neurologic systems (eg, spasticity, dystonia or rigidity, resting or rubral tremor, chorea, motor unit weakness or fatigue, autonomic dysfunction, peripheral or posterior column sensory loss, neuropathic pain or cramping, double vision, vision and hearing loss, dementia, and bowel, bladder, and sexual dysfunction), which can impede the treatment of the ataxic symptoms or can worsen with the use of certain drugs. Treatment of the associated features themselves may in turn worsen the ataxia either directly (as side effects of medication) or indirectly (eg, relaxation of lower limb spasticity that was acting as a stabilizer for an ataxic gait). Secondary complications of progressive ataxia can include deconditioning or immobility, weight loss or gain, skin breakdown, recurrent pulmonary and urinary tract infections, aspiration, occult respiratory failure, and obstructive sleep apnea, all of which can be life threatening. Depression in the patient and family members is common. Although no cures exist for most of the causes of cerebellar ataxia and there are as yet no proven ways to protect neurons from premature cell death or to restore neuronal populations that have been lost, symptomatic treatment can greatly improve the quality of life of these patients and prevent complications that could hasten death. Supportive interventions should always be offered-- education about the disease itself, genetic counseling, individual and family counseling, referral to support groups and advocacy groups, and guidance to online resources. Misinformation, fear, depression, hopelessness, isolation, and financial and interpersonal stress can often cause more harm to the patient and caregiver than the ataxia itself.
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PMID:Cerebellar Ataxia. 1109 49

Dentatorubral and pallidoluysian atrophy (DRPLA) is an autosomal dominant neurodegenerative disorder similar to Huntington's disease, with clinical manifestations including chorea, incoordination, ataxia, and dementia. It is caused by an expansion of a CAG trinucleotide repeat encoding polyglutamine in the atrophin-1 gene. Both patients and DRPLA transgenic mice have nuclear accumulation of atrophin-1, especially an approximately 120-kDa fragment, which appears to represent a cleavage product. We now show that this is an N-terminal fragment that does not correspond to the previously described caspase-3 fragment, or any other known caspase cleavage product. The atrophin-1 sequence contains a putative nuclear localization signal in the N terminus of the protein and a putative nuclear export signal in the C terminus. We have tested the hypothesis that endogenous localization signals are functional in atrophin-1, and that nuclear localization and proteolytic cleavage contribute to atrophin-1 cell toxicity. In transient cell transfection experiments using a neuroblastoma cell line, full-length atrophin-1 with 26 (normal) or 65 (expanded) glutamines localized to both nucleus and cytoplasm, with no significant difference in toxicity between the normal and mutant proteins. A construct with 65 glutamine repeats encoding an N-terminal fragment (which removes an NES) of atrophin-1 similar in size to the truncation product in DRPLA patient tissue, showed increased nuclear labeling, and an increase in cellular toxicity, compared with a similar fragment with 26 glutamines. Full-length atrophin-1 with 65 polyglutamine repeats and mutations inactivating the NES also yielded increased nuclear localization and increased toxicity. These data suggest that truncation enhances cellular toxicity of the mutant protein, and that the NES is a relevant region deleted during truncation. Furthermore, mutating the NLS in the truncated protein shifted atrophin-1 more to the cytoplasm and eliminated the increased toxicity, consistent with the idea that nuclear localization enhances toxicity. In none of the experiments were inclusions visible in the nucleus or cytoplasm suggesting that inclusion formation is unrelated to cell death. These data indicate that truncation of atrophin-1 may alter its ability to shuttle between the nucleus and cytoplasm, leading to abnormal nuclear interactions and cell toxicity.
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PMID:Nuclear localization of a non-caspase truncation product of atrophin-1, with an expanded polyglutamine repeat, increases cellular toxicity. 1246 7

Chorea gravidarum is a rare syndrome in pregnancy. The clinical picture is of extrapyramidal symptoms such as involuntary movements, lack of coordination and slurred speech. Neuroleptics or benzodiazepines can be used for treatment. When antiphospholipid antibodies are shown to be present, corticosteroids, and sometimes aspirin, are added to the treatment. Movement disorders can also be associated with an increased central dopamine level. In this report, we present the case of a patient with chorea gravidarum in whom an etiologic factor has not been observed. We treated the symptoms with dopamine-blocking agents such as haloperidol. We believe that, if chorea gravidarum is not accompanied by other etiologic factors (such as antiphospholipid antibodies), there is no elevated risk for the mother and the fetus.
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PMID:Chorea gravidarum: a case report. 1260 70

We developed and tested the clinimetric properties of a scale for psychogenic movement disorders (PMDs). PMDs are disabling but lack any generally accepted treatment strategies. To develop treatments, means of assessing disease severity must be provided. No scale to assess PMDs existed. The PMD scale developed here rates 10 phenomena (rest tremor, action tremor, dystonia, chorea, bradykinesia, myoclonus, tics, athetosis, ballism, cerebellar incoordination), 2 functions (gait, speech), and 14 body regions. To study interrater agreement, three movement disorder neurologists independently rated 88 videotapes of PMD patients. Data analysis was performed using a kappa coefficient of agreement, Kendall's coefficient of concordance, Spearman correlations, and intraclass correlation coefficients. Validity and scale responsiveness were tested as well. All phenomena and speech and gait dysfunction occurred in the patient sample. A wide range of affected body regions, severity, and incapacitation was captured. Ratings showed excellent interrater reliability for presence or absence of each phenomenon (kappa range, 0.63 to 0.86). Kendall's concordance coefficients for phenomenology, function, and total PMD scores were 0.92, 0.93, and 0.91. Spearman correlations between raters ranged from 0.86 to 0.90. The scale was responsive to changes that occurred as a result of a neuropsychiatric intervention. The PMD scale adequately captures the complex movements of PMDs and can be used to assess PMDs and test the efficacy of intervention strategies.
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PMID:Rating scale for psychogenic movement disorders: scale development and clinimetric testing. 1610 25


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