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Página 1 a partir de 41 resultados
[Choreo-athetosis with hepato-cerebral degeneration in a patient with a portocaval shunt (author's transl)].
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[Autopsy cases of children with severe physical and mental handicaps--with special reference to 2 cases of athetosis with atrophy of the Ammon's horn].
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[Study on two autopsied cases of degenerative type of myoclonus epilepsy with choreo-athetoid movement: Proposal of hereditary dentate and pallidal system atrophy (author's transl)].
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[Triplet repeat disorder, dentatorubral and pallidoluysian atrophy DRPLA)].
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Dentatorubral and pallidoluysian atrophy (DRPLA) is an autosomal dominant neurodegenerative disorder characterized by combined systemic degeneration of the dentatofugal and pallidofugal pathways. The patients show a variable combination of symptoms including cerebellar ataxia, involuntary movements
Dentatorubral-pallidoluysian atrophy in two Chinese families in Hong Kong.
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We report on two Hong Kong Chinese families with dentatorubral-pallidoluysian atrophy. Two children in one family presented with progressive myoclonic epilepsy syndrome, and two children in the other family presented with ataxochoreo-athetoid symptoms. Early-onset childhood
Dentatorubral-pallidoluysian atrophy. Clinical features of a five-generation Danish family.
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We describe the first Danish family with dentatorubral-pallidoluysian atrophy (DRPLA), containing 16 clinically affected individuals in five generations. Inheritance is autosomal dominant. The disorder was diagnosed as Huntington's disease (HD), but analysis of the IT15 gene for HD revealed normal
Hypertrophic olivary degeneration and cerebrovascular disease: movement in a triangle.
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Hypertrophic olivary degeneration is a rare kind of trans-synaptic degeneration that occurs after lesions of the dentatorubro-olivary pathway. The lesions, commonly unilateral, may result from hemorrhage due to vascular malformation, trauma, surgical intervention or hypertension, tumor, or ischemia.
Infantile cerebellar-retinal degeneration associated with a mutation in mitochondrial aconitase, ACO2.
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Degeneration of the cerebrum, cerebellum, and retina in infancy is part of the clinical spectrum of lysosomal storage disorders, mitochondrial respiratory chain defects, carbohydrate glycosylation defects, and infantile neuroaxonal dystrophy. We studied eight individuals from two unrelated families
Nitrous Oxide-induced Subacute Combined Degeneration Presenting with Dystonia and Pseudoathetosis: A Case Report.
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OBJECTIVE
Nitrous oxide (N2O) is neurotoxic by interfering with vitamin B12 bioavailability. The clinical picture is indistinguishable to that of subacute combined degeneration (SCD). A movement disorder might occur though it is not a characteristic feature. We report a patient with N2O-induced SCD,
[A new type of complicated form of hereditary spastic paraplegia showing mental deterioration, quadriplegia with muscular atrophy, sensory disturbance, extrapyramidal disorders, and epilepsy].
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This study proposes a new type of complicated form of hereditary spastic paraplegia (HSP) and some problems on a clinico-pathological classification of HSP. The present study includes three male and two female patients from two families (A and B). In the family A, four siblings (two males and two
The pathological anatomy of posthemiplegic athetosis.
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Disorders of movement after hemiplegia have been described for more than a century, but their pathological anatomy and physiology have remained poorly understood because of ambiguous terminology and incomplete studies. We examined the brains of 5 patients which had been serially sectioned where
[SUCLA2-related encephalomyopathic mitochondrial DNA depletion syndrome: a case report and review of literature].
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OBJECTIVE
To analyze the clinical characteristics of SUCLA2-related encephalomyopathic mitochondrial DNA depletion syndrome (MDS) in one patient, and review the latest clinical research reports.
METHODS
Clinical, laboratory and genetic data of one case of SUCLA2-related encephalomyopathic MDS
Long term results of stereotaxic surgery for infantile dystonia and dyskinesia.
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Our experience is based on a series of 25 patients suffering from infantile dyskinesias and dystonias who underwent stereotaxic surgery of basal ganglia. We first note the immediate good results (77%) obtained by thalamo-sub-thalamotomy. Concerning dyskinesia this type of surgery enjoys in an
Infantile onset spinocerebellar ataxia with sensory neuropathy (IOSCA): neuropathological features.
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Infantile onset spinocerebellar ataxia (IOSCA, MIM 271245) is a recessively inherited, progressive neurological disease, which we have described in 19 Finnish patients. The clinical symptoms of IOSCA include ataxia, athetosis, hypotonia, hearing deficit, ophthalmoplegia, sensory neuropathy, female
Infantile onset spinocerebellar ataxia with sensory neuropathy: a new inherited disease.
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We report the clinical findings in 19 Finnish patients, including six pairs of siblings, with a new, early onset spinocerebellar ataxia. The slowly progressive clinical symptoms manifested between one and two years of age in previously healthy infants. The first manifestation of children at that age
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