abetalipoproteinemia/ataxie

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Deep brain stimulation for the treatment of tremor and ataxia associated with abetalipoproteinemia.

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BACKGROUND Abetalipoproteinemia is a rare disorder of fat absorption, characterized by vitamin deficiency, acanthocytosis, and neurologic symptoms including ataxia and tremor. METHODS A 41-year-old male with abetalipoproteinemia is presented. He underwent staged bilateral thalamic deep brain

Ataxia with vitamin E deficiency and abetalipoproteinemia.

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[Ataxia-areflexia-familial steatorrhea without abetalipoproteinemia or acanthocytosis].

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Bassen-Kornweig syndrome. Neuromuscular disorder resembling Friedreich's ataxia associated with retinitis pigmentosa, acanthocytosis, steatorrhea, and an abnormality of lipid metabolism.

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Arrest of neuropathy and myopathy in abetalipoproteinemia with high-dose vitamin E therapy.

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A 16-year-old girl, one of dizygotic twins, presented in 1976 complaining of a 1-year history of a lack of coordination and an inability to run. The results of biochemical tests confirmed the diagnosis of classic abetalipoproteinemia. In addition to the recognized neurologic features of this

Acanthocytosis and neurological impairment--a review.

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Acanthocytes have a distinct morphology and are not normally found in peripheral blood. They occur in association with at least three neurological syndromes. In abetalipoproteinaemia, a progressive spinocerebellar ataxia and retinopathy occurs secondary to malabsorption of vitamin E. Cases with

[Abetalipoproteinemia: case report].

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The abetalipoproteinemia is a recessively inherited defect in the formation of the proteins coating chylomicrons. Their absence compromises the transport of absorbed fats out of the enterocytes into the lymphatic system and the general circulation. Clinical features include steatorrhea, retarded

Rare forms of autosomal recessive neurodegenerative ataxia.

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There has been a recent explosion in knowledge regarding the genetic basis of several autosomal recessive ataxias. This article summarizes current information regarding rare forms of recessive ataxias. Friedreich's ataxia and ataxia telangiectasia are dealt with in other articles in this issue. The

Clinical, hematological, and imaging observations in a 25-year-old woman with abetalipoproteinemia.

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Abetalipoproteinemia is an uncommon cause of ataxia and retinitis pigmentosa (RP). Most of the neurological and ocular manifestations occur secondary to deficiency syndromes that is consequent to fat malabsorption from the small intestine. In this report, we have described the phenotype of a young

[Autosomal recessive cerebellar ataxias].

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BACKGROUND Autosomal recessive cerebellar ataxias (ARCA) are heterogeneous and complex inherited neurodegenerative diseases that may affect the cerebellum and/or the spinocerebellar tract, the posterior column of the spinal cord and the peripheral nerves. Cerebellar ataxia is frequently proeminent

Autosomal recessive cerebellar ataxias.

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Autosomal recessive cerebellar ataxias (ARCA) are a heterogeneous group of rare neurological disorders involving both central and peripheral nervous system, and in some case other systems and organs, and characterized by degeneration or abnormal development of cerebellum and spinal cord, autosomal

[Autosomal recessive cerebellar ataxias. Their classification, genetic features and pathophysiology].

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BACKGROUND Autosomal recessive cerebellar ataxias (ARCA) are a heterogeneous group of rare neurological disorders involving both central and peripheral nervous system, and in some case other systems and organs. They use to have early onset before the age of 20. Based on pathogenic mechanisms five

The complex clinical and genetic classification of inherited ataxias. II. Autosomal recessive ataxias.

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Autosomal recessive ataxias are a heterogeneous group of rare neurodegenerative diseases characterized by early onset cerebellar ataxia associated with various neurologic, ophthalmologic and systemic signs. In comparison with autosomal dominant ataxias, the group of recessive ataxias is less

[Autosomal recessive cerebellar ataxias].

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Friedreich ataxia is the most frequent recessive cerebral ataxia d should always be researched first. Ataxia with isolated vitamin E deficiency and abetalipoproteinemia have a specific treatment. Associated neurological signs such polyneuroapthy, ophtalmologic or oculomotor signs, pyramidal signs,

[Therapeutic developments in chronic ataxias].

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Autosomal recessive cerebellar ataxias belong to a broader group of disorders known as inherited ataxias. In most cases onset occurs before the age of 20. These neurological disorders are characterized by degeneration or abnormal development of the cerebellum and spinal cord. Currently, specific

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