Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0013421 (dystonia)
 8,418 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Movement disorders are reported in a significant number of patients within the course of Creutzfeldt-Jakob disease (CJD). Although myoclonus is more frequent, dystonia, choreoathetosis, tremor, hemiballismus, and atypical parkinsonian syndromes have also been reported. In this review, we report the principal movement disorders associated with CJD and evaluate their correlations with neuroradiological and neuropathological findings that could in fact suggest a basal ganglia dysfunction. Further studies are warranted in order to clarify these correlations.
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PMID:Movement disorders and Creutzfeldt-Jakob disease: a review. 1636 74

The objective of this study is to better understand the relationship between neuroradiologic and clinical characteristics in holoprosencephaly (HPE) using the multivariate analysis called factor analysis. HPE is a brain malformation characterized by incomplete cleavage of the cerebral hemispheres and deep gray structures. We performed evaluations on 89 children with HPE that included their history, developmental assessment, and physical examination. Ten clinical variables included in factor analysis were the grade of spasticity, dystonia, choreoathetosis, hypotonia, mobility, upper extremity/hand function, expressive language, feeding/swallowing difficulty, endocrinopathies, and temperature dysregulation. Five neuroimaging variables graded by pediatric neuroradiologists were the grade of HPE (from least to most severe: lobar, semilobar, and alobar) and the degree of non-separation of caudate, lentiform, thalamic, and hypothalamic nuclei. Factor analysis using principle component extraction and varimax rotation was utilized. Four significant factors were identified: (1) neuroimaging/developmental factor, (2) motor factor, (3) hypothalamic/oromotor factor, and (4) hypotonia factor. These four factors accounted for 65.2% of the variance. In this factor analysis of HPE patients, we were able to reduce the large number of clinical and radiological variables into four factors. These factors and the constructs underlying them provide structure to the data and provide key parameters for future studies involving neurodevelopmental outcomes in HPE.
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PMID:Factor analysis of neuroanatomical and clinical characteristics of holoprosencephaly. 1650 93

The occurrence of degenerative spinal disease subsequent to dystonic movement disorders has been neglected and has received more attention only recently. Spinal surgery is challenging with regard to continuous mechanical stress when treatment of the underlying movement disorder is insufficient. To characterize better the particular features of degenerative spinal disease in patients with dystonia and to analyze operative strategies, we reviewed the available published data. Epidemiologic studies reveal that degenerative spinal disorders in patients with dystonia and choreoathetosis occur much earlier than in the physiological aging process. Dystonic movement disorders more often affect the spine at higher cervical levels (C(2-5)), in contrast to spinal degeneration with age which manifests more frequently at the middle and lower cervical spine (C(5-7)). Degenerative changes of the cervical spine are more likely to occur on the side where the chin is rotated or tilted to. Various operative approaches for treatment of spinal pathologies have been advocated in patients with dystonic movement disorders. The available data do not allow making firm statements regarding the superiority of one approach over the other. Posterior approaches were first used for decompression, but additional anterior fusion became necessary in many instances. Anterior approaches with or without instrumented fusion yielded more favorable results, but drawbacks are pseudarthrosis and adjacent-level disease. Parallel to the development of posterior fusion techniques, circumferential surgery was suggested to provide a maximum degree of cord decompression and a higher fusion rate. Perioperative local injections of botulinum toxin were used initially to enhance patient comfort with halo immobilization, but they are also applied in patients without external fixation nowadays. Treatment algorithms directed at the underlying movement disorder itself, taking advantage of new techniques of functional neurosurgery, combined with spinal surgery have recently been introduced and show promising results.
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PMID:Dystonic movement disorders and spinal degenerative disease. 1684 Aug 23

3-hydroxyisobutyric aciduria (3HiB-uria) is a very rare organic aciduria that involves valine metabolism. We report the case of a 7-year-old boy with 3HiB-uria who has suffered more than 20 ketoacidotic episodes since the age of 15 months. In the most recent ketoacidotic episode, which was particularly severe, he developed mild dystonia and choreoathetosis. Magnetic resonance imaging (MRI) revealed bilateral swelling and signal abnormalities of the putamina and heads of the caudate nuclei. The abnormal movements showed a gradual improvement over several months, in correlation with neuroradiological findings. 3HiB-uria should be recognized as one of the group of branched chain organic acidemias that can produce lesions in the basal ganglia.
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PMID:Basal ganglia lesions in a patient with 3-hydroxyisobutyric aciduria. 1671 61

To date, there are few reports of paroxysmal exercise-induced dystonia associated with familial epilepsy. We describe a family with 4 affected members spanning 3 generations, suggestive of autosomal-dominant inheritance, who exhibited typical exercise-induced dystonia, different types of epilepsy (absence and primary generalized seizures), developmental delay, and migraine in variable combinations. Linkage of the disease to loci on chromosome 2 (paroxysmal nonkinesigenic dyskinesia) and chromosome 16 (paroxysmal kinesigenic choreoathetosis, infantile convulsions with choreoathetosis) was excluded, suggesting an as yet unidentified underlying genetic basis.
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PMID:New family with paroxysmal exercise-induced dystonia and epilepsy. 1729 Apr 64

Electrical injuries to the extremities may result in a range of neurologic manifestations, which include movement disorders such as parkinsonism, segmental myoclonus, choreoathetosis, tremors and dystonia. A 66-year-old man developed segmental dystonia of the right upper extremity at the age of nine, three years after he accidentally held a live 240-V electrical wire in his right hand. MRI brain and cervical cord were normal. We discuss this unusual cause of secondary dystonia and review the literature.
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PMID:Segmental dystonia following electrocution in childhood. 1738 94

Ataxia with oculomotor apraxia type 1 (AOA1) is a rare autosomal recessive neurodegenerative disease, recently associated with mutations in the aprataxin gene. Main features are early onset cerebellar ataxia, oculomotor apraxia and peripheral neuropathy. The presence of choreoathetosis or dystonia in some patients suggests basal ganglia involvement, but these structures appear preserved in a single case in which neuropathological examination was performed. To evaluate in vivo the nigrostriatal function we studied dopamine transporter (DAT) density with [(123)I] 2beta-carbometoxy-3beta-(4-iodophenyl)-N-(3-fluoropropyl) nortropane (FPCIT)-SPECT in four AOA1 patients and eight healthy volunteers. All patients showed ataxia and neuropathy; only one had chorea and none had dystonia. Comparing with controls, AOA1 patients showed a slight reduction of the average striatal DAT density, which was bilateral and uniform in caudate and putamen. Nigrostriatal impairment occurred even in the absence of extrapyramidal features. Our data suggest subclinical involvement of basal ganglia in AOA1.
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PMID:Nigrostriatal involvement in ataxia with oculomotor apraxia type 1. 1800 40

Deficiency of hypoxanthine-guanine phosphoribosyltransferase (HPRT) activity is an inborn error of purine metabolism associated with uric acid overproduction and a continuum spectrum of neurological manifestations depending on the degree of the enzymatic deficiency. The prevalence is estimated at 1/380,000 live births in Canada, and 1/235,000 live births in Spain. Uric acid overproduction is present inall HPRT-deficient patients and is associated with lithiasis and gout. Neurological manifestations include severe action dystonia, choreoathetosis, ballismus, cognitive and attention deficit, and self-injurious behaviour. The most severe forms are known as Lesch-Nyhan syndrome (patients are normal at birth and diagnosis can be accomplished when psychomotor delay becomes apparent). Partial HPRT-deficient patients present these symptoms with a different intensity, and in the least severe forms symptoms may be unapparent. Megaloblastic anaemia is also associated with the disease. Inheritance of HPRT deficiency is X-linked recessive, thus males are generally affected and heterozygous female are carriers (usually asymptomatic). Human HPRT is encoded by a single structural gene on the long arm of the X chromosome at Xq26. To date, more than 300 disease-associated mutations in the HPRT1 gene have been identified. The diagnosis is based on clinical and biochemical findings (hyperuricemia and hyperuricosuria associated with psychomotor delay), and enzymatic (HPRT activity determination in haemolysate, intact erythrocytes or fibroblasts) and molecular tests. Molecular diagnosis allows faster and more accurate carrier and prenatal diagnosis. Prenatal diagnosis can be performed with amniotic cells obtained by amniocentesis at about 15-18 weeks' gestation, or chorionic villus cells obtained at about 10-12 weeks' gestation. Uric acid overproduction can be managed by allopurinol treatment. Doses must be carefully adjusted to avoid xanthine lithiasis. The lack of precise understanding of the neurological dysfunction has precluded development of useful therapies. Spasticity, when present, and dystonia can be managed with benzodiazepines and gamma-aminobutyric acid inhibitors such as baclofen. Physical rehabilitation, including management of dysarthria and dysphagia, special devices to enable hand control, appropriate walking aids, and a programme of posture management to prevent deformities are recommended. Self-injurious behaviour must be managed by a combination of physical restraints, behavioural and pharmaceutical treatments.
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PMID:Hypoxanthine-guanine phosophoribosyltransferase (HPRT) deficiency: Lesch-Nyhan syndrome. 1806 74

Hypoxic-ischemic brain injury is a very important neurological problem of the perinatal period and a major cause of chronic disability later in childhood. The subsequent neurological deficits are a variety of motor defects-especially spasticity but also choreoathetosis, dystonia and ataxia, often grouped together as "cerebral palsy," mental retardation, and seizures. The gestational age determines the neuropathology of the brain injury. One of the patterns of hypoxic-ischemic encephalopathy, typically affecting full-term infants, consists of parasagittal lesions and ulegyria. The aim of this study is to describe the magnetic resonance imaging (MRI) features and discuss the "suggested" pathogenetic mechanisms of this pattern, which affects the cortex and the white matter in a mainly parasagittal distribution; in this type of brain injury, the damage usually involves the deeper sulcal portion while sparing the apex, thus resulting in the so-called mushroom gyri characteristic ulegyric pattern. We discuss the MRI findings of parasagittal lesions and ulegyria in the brain examinations of 14 patients with a clinical history of perinatal hypoxia/anoxia presenting with mental retardation, seizures, and cerebral palsy. Differential diagnosis from polymicrogyria is discussed.
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PMID:Parasagittal lesions and ulegyria in hypoxic-ischemic encephalopathy: neuroimaging findings and review of the pathogenesis. 1816 May 53

Patients harboring A467T and W748S POLG1 mutations present with a broad variety of neurological phenotypes, including cerebellar ataxia, progressive external ophthalmoplegia (PEO), myoclonus, epilepsy, and peripheral neuropathy. With exception of ataxia and myoclonus, movement disorders are not typical features of POLG1 associated disorders. We report on two affected siblings compound heterozygous for A467T and W748S mutations, one suffering from choreoathetosis and apraxia of lid opening due to focal eyelid dystonia that mimicked progression of ptosis, resulting in functional blindness. So far, focal dystonia has not been reported in POLG1 mutation carriers, and should be considered when investigating patients with PEO and ptosis. Further studies on POLG1 mutations in focal dystonia are warranted.
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PMID:Apraxia of lid opening mimicking ptosis in compound heterozygosity for A467T and W748S POLG1 mutations. 1854 43


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