Cases reported "Ataxia"

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11/76. Rubral tremor after thalamic infarction in childhood.

    The occurrence of tremor after thalamic lesions is well known. Delayed rubral tremor secondary to bilateral thalamic infarction is a rare finding and has not been reported previously in childhood. We present two children with a combined resting-postural-kinetic tremor caused by bithalamic infarction. The first child was a male 14 months of age, and the second was a male 9 years of age. These children come from unrelated families. On hospital admission of the first patient, generalized seizures and routine electroencephalogram (EEG) findings with diffuse spike-wave discharges predominantly over the left frontal area were clinically observed, leading to the initial diagnosis of epilepsia partialis continua. However, clinical observation and video-EEG monitoring of the movements revealed nonepileptiform accompaniments, favoring the diagnosis of rubral tremor. In the second patient, EEG revealed no paroxysmal activity and was within normal limits for age. In both patients, cranial magnetic resonance imaging revealed ischemic lesions in thalami bilaterally but failed to reveal any mesencephalic lesion. These patients demonstrate that thalamic infarction can cause rubral tremor in childhood.
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12/76. Vim thalamotomy for Holmes' tremor secondary to midbrain tumour.

    Holmes' (rubral or midbrain) tremor is an unusual combination of 2 Hz to 5 Hz rest, postural, and kinetic tremors of an upper extremity. This tremor has been considered to result from the lesions in the vicinity of the red nucleus in the midbrain. There has been no systematic analysis of the surgical target in the Holmes' tremor so far of nucleus ventrointermedius (Vim) or globus pallidus interna. This 26 year old man gradually developed a disabling midbrain tremor involving both the distal and proximal parts of the left upper arm. Additional neurological findings included oculomotor palsy and ataxia of the left arm. On the radiological studies, a mass lesion (germinoma) was found on the midbrain tegmentum, which was treated by conventional radiation therapy. Although there was improvement in the radiological imaging, his midbrain tremor became intolerable despite medical treatment. The authors performed MR guided stereotactic Vim thalamotomy. With radiofrequency lesioning in the right Vim, his resting, postural, and action tremors were much alleviated in both the distal and proximal parts of the left upper extremity. The authors consider that Vim thalamotomy is still an effective means of controlling midbrain tremors involving the proximal upper limb.
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ranking = 1.3333695578396
keywords = tremor, action
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13/76. Balint's syndrome in a 10-year-old male.

    A 10-year-old male was referred with difficulties at school. He had particular difficulty with reading long words, following the sequence of text down a page, writing words in the correct order, writing words in line, and copying from the blackboard. He had a history of infective endocarditis complicated by intracerebral haemorrhage at the age of three years. Detailed history taking revealed symptoms typical of 'dorsal stream' pathology, namely a deficit of 'vision for action'. This included a spatial disorder of attention (simultanagnosia), defective hand and foot movements under visual control (optic ataxia), and acquired oculomotor apraxia which are consistent with Balint's syndrome. Strategies were suggested for coping with the symptoms and one year later a distinct improvement in adapting to the disability was found.
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ranking = 3.622450627846E-5
keywords = action
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14/76. Chronic neurodegenerative disease associated with HTLV-II infection.

    Although human T-cell leukemia virus (HTLV) type I is known to cause a number of diseases, there has been no convincing evidence of pathological changes after infection with the related virus, HTLV-II. We have found an endemic focus of HTLV-II infection among members of an American Indian population in new mexico, USA. We set out to determine the pathological consequences of HTLV-II infection in this population and identified two sisters (aged 59 and 46 years) with a disease superficially resembling the myeloneuropathy induced by HTLV-I. These women had a syndrome similar to the olivopontocerebellar atrophy variant of multiple system atrophy, and HTLV-II infection was confirmed by western blot and the polymerase chain reaction. Thus, HTLV-II may, like HTLV-I, cause a progressive neurodegenerative disease.
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ranking = 3.622450627846E-5
keywords = action
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15/76. Salla disease variant in a Dutch patient. Potential value of polymorphonuclear leucocytes for heterozygote detection.

    A Dutch child with psychomotor retardation, impaired speech, ataxia, sialic acid storage and vacuolized skin fibroblasts and lymphocytes was diagnosed as having free sialic acid storage disease. Slight corneal opacities, pale optic disks at the fundus oculi and vertebral abnormalities, not earlier reported in Salla disease, were peculiar to this case. Free sialic acid was about tenfold increased in urine and cultured fibroblasts, without changes in the glycoconjugate-bound sialic acid pool. A subsequent pregnancy of the patient's mother was monitored by assay of sialic acid in chorionic villi and amniotic fluid. An unaffected foetus was predicted. Sialic acid was also assayed in peripheral blood total leucocytes, and in mononuclear and polymorphonuclear (PMN) leucocyte subpopulations. Each of these leucocyte fractions from the patient showed 10- to 30-fold increase in sialic acid content. The PMN subpopulation provided the most restricted range of control values and showed slightly increased values for the patient's parents. These results suggest that the assay of sialic acid in PMN might be useful for the identification of heterozygotes in sialic acid storage disease. Studies on a larger number of obligate heterozygotes are needed to confirm this observation.
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ranking = 3.622450627846E-5
keywords = action
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16/76. Fragile-X-associated tremor/ataxia syndrome (FXTAS) in females with the FMR1 premutation.

    We describe five female carriers of the FMR1 premutation who presented with symptoms of tremor and ataxia and who received a diagnosis of definite or probable fragile-X-associated tremor/ataxia syndrome (FXTAS). Unlike their male counterparts with FXTAS, none of the women had dementia. Females had not been reported in previous studies of FXTAS, suggesting that they may be relatively protected from this disorder. Brain tissue was available from one of the five subjects, a women who died at age 85 years; microscopic examination revealed intranuclear neuronal and astrocytic inclusions, in accord with the findings previously reported in males with FXTAS. The work-up of families with the FMR1 mutation should include questions regarding neurological symptoms in both older male and female carriers, with the expectation that females may also manifest the symptoms of FXTAS, although more subtly and less often than their male counterparts.
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ranking = 0.66666666666667
keywords = tremor
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17/76. SANDO: another presentation of mitochondrial disease.

    PURPOSE: To describe a unique mitochondrial syndrome that may present with the combination of ocular manifestations, sensory symptoms, and speech dysfunction. DESIGN: Case report. methods: Case report and review of the literature. RESULTS: A 43-year-old man presented with a Sensory Ataxic Neuropathy, dysarthria, and Ophthalmoparesis (SANDO). Nerve conduction studies showed a sensory ganglionopathy. Skeletal muscle biopsy revealed ragged red fibers, and polymerase chain reaction analysis of the tissue demonstrated multiple mitochondrial dna deletions. CONCLUSION: Mitochondrial disease should be considered in cases of external ophthalmoplegia, especially if a sensory ganglionopathy and dysarthria are present.
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ranking = 3.622450627846E-5
keywords = action
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18/76. Episodic ataxia type 1 with distal weakness: a novel manifestation of a potassium channelopathy.

    Episodic ataxia type1 (EA1) is an autosomal dominant disorder characterised by episodes of ataxia, dysarthria, tremor and visual disturbances lasting for seconds or minutes, precipitated by physical and emotional stress, startle or sudden movements. In addition there is continuous myokymia. Phenotypic variants such as the combination with epilepsy, shortening of the achilles tendon in children, transient postural abnormalities in infancy, and a very few patients with longer lasting episodes have been reported. We describe a 10-year-old girl with EA1 who has distal weakness with paresis of the extensors of the feet and prolonged spells of limb stiffness (neuromyotonia) lasting up to 12 hours. A novel single nucleotide change at position 785 T > C that alters a highly conserved residue in the third transmembrane segment of the voltage-gated potassium channel Kv1.1 was found.
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ranking = 0.11111111111111
keywords = tremor
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19/76. Preserved prism adaptation in bilateral optic ataxia: strategic versus adaptive reaction to prisms.

    To date the anatomical substrate(s) of prism adaptation remain(s) particularly debated, with two main candidates emerging from the literature: the posterior parietal cortex (PPC) and the cerebellum. The functional processes involved in the acquisition of the adaptive aftereffects also remain largely unknown. The main result shown here is that a patient with a bilateral optic ataxia can adapt to an optical deviation, which allows us to make a step forward on these two issues. First, it demonstrates that the corresponding part of the PPC is not a necessary substrate for prism adaptation. Second, since this patient exhibits deficit for fast visuo-motor guidance, it provides direct evidence for a dissociation between on-line visuo-motor control and visuo-motor plasticity. Since the intermanual transfer rate of adaptation is larger in this patient than in control subjects, the PPC may still have an influence on adaptation under normal conditions. We propose a model of the relative contribution of the PPC and the cerebellum during prism exposure, associating these two structures with the two interacting behavioural components of prism adaptation described by previous psychophysical experiments: the strategic component would be linked to the PPC and the adaptive component to the cerebellum. In this model, the strategic component enters in conflict with the development and the generalisation of the adaptive aftereffects. This idea is compatible with the fact that a lesion of the PPC increases the transfer rate and the generalisation of the adaptation, as is also observed in unilateral neglect.
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ranking = 0.00014489802511384
keywords = action
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20/76. 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 = 0.66666666666667
keywords = tremor
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