Cases reported "Ataxia"

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1/25. A case of paroxysmal tonic upgaze of childhood with ataxia.

    Paroxysmal tonic upgaze of childhood is a rare, distinctive, childhood syndrome that may be associated with ataxia and sometimes strabismus or amblyopia. Neurological examination as well as metabolic studies, electroencephalogram and neuroradiological investigations are normal in these patients. Although it has been considered as an age-related, dopa-sensitive dystonia, the exact pathogenetic mechanism is still unknown. Aggravation of attacks by fatigue, intercurrent infection or vaccination, and possible corticomesencephalic dysmaturation may underlie this abnormality. We report on a sporadic case of paroxysmal tonic upgaze with ataxia in which there was prompt aggravation of symptoms with sleep without response to levodopa treatment. This case suggests a different underlying pathogenetic mechanism from dopaminergic pathways for this syndrome.
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ranking = 1
keywords = dystonia
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2/25. Different types of repeat expansion in the TATA-binding protein gene are associated with a new form of inherited ataxia.

    A novel neurological syndrome has recently been described to be associated with an expanded polyglutamine domain. The expansion results from partial duplication within the TATA-binding protein (TBP). By investigation of 604 sporadic and familial cases with various forms of neurological syndromes and 157 unaffected individuals, we found repeat expansions in the TBP in four patients of two families with autosomal dominant inheritance of ataxia, dystonia, and intellectual decline. Two different genotypes for the repetitive sequence could be demonstrated which led to elongated polyglutamine stretches between 50 and 55 residues, whereas normal alleles with 27 to a maximum of 44 glutamine residues were found in this study. The expansion to 50 or more glutamine residues results in a pathological phenotype and confirms the report of a new polyglutamine disease.
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ranking = 1
keywords = dystonia
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3/25. Ataxic form of chronic inflammatory demyelinating polyradiculoneuropathy: clinical features and pathological study of the sural nerves.

    We investigated clinical and pathological features of the sural nerves of 5 patients with the ataxic form of chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) and compared these features with those of chronic ataxic neuropathies due to other causes. The CIDP patients presented with slowly progressive ataxia with deep sensory impairment. The durations of the symptoms from onset were relatively short in CIDP (4-8 months) and cancer (3 and 10 months), but long in chronic idiopathic ataxic neuropathy (24-260 months). Corticosteroid therapy elicited a good response in all the patients with CIDP, but a poor response in the patients with other ataxic neuropathies. sural nerve biopsy of CIDP patients showed a slight or moderate loss of myelinated fiber. This report suggests that ataxic form of CIDP is a steroid-responsive ataxic neuropathy, and large myelinated fibers of the sural nerves in ataxic form of CIDP were better preserved than those in nerves with other chronic ataxic neuropathies.
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ranking = 0.013987610946746
keywords = idiopathic
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4/25. Niemann-Pick disease type C in adults.

    Although it is often perceived as a paediatric disorder, significant numbers of patients with Niemann-Pick disease type C present for the first time in adult life or survive into adult life. The presentation in these patients differs from that seen in the classical juvenile form of the disease. adult patients are often referred to clinicians with psychosis or other major psychiatric problems. The dystonia with preserved intellectual functioning can be mistaken for other basal ganglia disorders such as Wilson disease. The presence of vertical gaze palsy is an important clinical clue and, in the presence of a modest increase in plasma chitotriosidase activity, can be very helpful in the differential diagnosis. The diagnosis should be confirmed in suspected cases by filipin staining of cultured fibroblasts, as well as cholesterol esterification studies and dna mutation analysis.
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ranking = 1
keywords = dystonia
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5/25. basal ganglia injury as a complication of the ketogenic diet.

    movement disorders or basal ganglia injury have not been reported as complications of the ketogenic diet, an alternative treatment for intractable epilepsy. We report on a novel complication of the ketogenic diet manifesting as a severe extrapyramidal movement disorder and bilateral putaminal lesions. A single case is described. A video demonstrating the movement disorder is included. A 5-year-old girl with a cryptogenic epileptic encephalopathy developed focal dystonia, diffuse chorea, and ataxia after starting the ketogenic diet. Cranial magnetic resonance imaging (MRI) demonstrated bilateral putaminal lesions that were not present before starting the diet. MR spectroscopy showed a lactate peak in the basal ganglia, suggesting a failure of mitochondrial energy metabolism as the mechanism of cerebral injury. The radiographic abnormalities resolved after stopping the diet, although the movement disorder persisted. basal ganglia injury and extrapyramidal movement abnormalities are potential complications of the ketogenic diet. Concomitant use of valproate or a latent inborn error of metabolism may be risk factors for these rare complications.
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ranking = 1
keywords = dystonia
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6/25. Anti-neuronal nuclear autoantibody type 2: paraneoplastic accompaniments.

    We identified the IgG autoantibody ANNA-2 ("anti-Ri") in 34 patients in a 12-year period by immunofluorescence screening of sera from approximately 75000 patients with subacute neurological disorders that were suspected to be paraneoplastic. Detailed clinical information was available for 28 patients (10 men, 18 women). Cancer was diagnosed in 24 patients (86%); 21 had histologically proven carcinoma (10 lung, 9 breast, 1 cervical, 1 bladder), and 3 had an intrathoracic imaging abnormality. Cancer anteceded neurological symptoms in 4 of 28 patients. Cancer detection frequency increased with continued surveillance. Neurological disorders, in decreasing frequency, were brainstem syndrome (including opsoclonus, myoclonus, or both), cerebellar syndrome, myelopathy, peripheral neuropathy, cranial neuropathy, movement disorder, encephalopathy, Lambert-Eaton syndrome, and seizures. Four patients had laryngospasm and four had jaw opening dystonia (two with neck dystonia). Nine (32%) were wheelchair-bound 1 month after neurological symptom onset. Most improved neurologically after immunomodulatory or tumor-directed therapy. Accompanying autoantibodies, found in 73% of sera, included ANNA-1, ANNA-3, CRMP-5-IgG, P/Q-type and N-type Ca(2 ) channel antibodies, and muscle-type acetylcholine receptor antibody. Some neurological accompaniments of ANNA-2 may reflect potentially pathogenic humoral or cell-mediated responses to coimmunogenic tumor antigens, for example, Lambert-Eaton syndrome (P/Q-type Ca(2 ) channel antibody) and peripheral neuropathy (ANNA-1 effector T cells).
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ranking = 2
keywords = dystonia
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7/25. ataxia with vitamin e deficiency and severe dystonia: report of a case.

    mutation of the gene for alpha-tocopherol transfer protein causes ataxia with isolated vitamin e deficiency, a disorder usually stabilized or improved after vitamin E supplementation. dystonia has rarely been described in ataxia with isolated vitamin e deficiency (AVED) patients. We present the case of a young boy with AVED, whose neurological and extra-neurological cardinal symptoms of the disease improved after vitamin E supplementation but who progressively developed generalized dystonia.
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ranking = 5
keywords = dystonia
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8/25. deep brain stimulation of the nucleus ventralis intermedius for Holmes (rubral) tremor and associated dystonia caused by upper brainstem lesions. Report of two cases.

    Holmes tremor is caused by structural lesions in the perirubral area of the midbrain. patients often present with associated symptoms such as dystonia and paresis, which are usually refractory to medical therapy. Here, the authors describe two patients in whom both tremor and associated dystonia improved markedly following unilateral stimulation of the thalamic nucleus ventralis intermedius.
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ranking = 6
keywords = dystonia
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9/25. parvovirus B19 infection presenting as pre-B-cell acute lymphoblastic leukemia: a transient and progressive course in two children.

    parvovirus B19 is the causative agent of various forms of hematologic diseases such as aplastic crisis in patients with hemolytic anemia, aplastic anemia, hypoplastic anemia, and idiopathic thrombocytopenic purpura. In addition, parvovirus B19 infection may precede or be associated with acute lymphoblastic leukemia (ALL). The authors present two cases of parvovirus B19 infection and bone marrow infiltration with pre-B-cell lymphoblasts; one patients was diagnosed as having ALL, and the other patient, with neurologic findings, showed total resolution of the blastic morphology and phenotype.
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ranking = 0.013987610946746
keywords = idiopathic
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10/25. Symptomatic segmental dystonia from a cavernous angioma in the centrum semiovale.

    We describe a 68 year-old Chinese man who presented with segmental dystonia involving the neck and right upper limb, which was exacerbated with action. EEG and MRI of the cervical spine were unremarkable, but MRI of the brain revealed a small cavernous angioma measuring one centimeter in diameter in the left centrum semiovale. The dystonia was ameliorated but not abolished with trihexyphenidyl. arteriovenous malformations have been described to cause movement disorders, but dystonia has not previously been reported in association with cavernous angiomas. A search of the literature revealed one report of a patient with chorea arising from a cavernous angioma. This interesting case illustrates how an uncomplicated cavernous angioma can rarely cause segmental dystonia and highlights the importance of neuroimaging in patients with late-onset movement disorders.
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ranking = 8
keywords = dystonia
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