Literature DB >> 3727925

Amyotrophic choreo-acanthocytosis: a new observation in southern Europe.

S Serra, A Xerra, A Arena.   

Abstract

Amyotrophic choreo-acanthocytosis is a rare disease of adult onset characterized by dyskinesias, neurogenic muscular atrophy, erythrocytary acanthocytosis with normal serum lipoproteins and elevated levels of serum CPK. Presumably, this disorder is an autosomal recessively inherited trait. This disease has been described in Japanese, English, Finnish and Puerto Rican people. This is the first observation in the southern countries of Europe, in two members of a Calabrian family. The authors point out that amyotrophic features can occur several years before the appearance of the extrapyramidal disorders.

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Year:  1986        PMID: 3727925     DOI: 10.1111/j.1600-0404.1986.tb04589.x

Source DB:  PubMed          Journal:  Acta Neurol Scand        ISSN: 0001-6314            Impact factor:   3.209


  2 in total

1.  Amyotrophic choreoacanthocytosis: is it really a very rare disease?

Authors:  S Serra; A Arena; A Xerra; A M Gugliotta; S Galatioto
Journal:  Ital J Neurol Sci       Date:  1986-10

2.  Computerized tomography in amyotrophic choreo-acanthocytosis.

Authors:  S Serra; A Xerra; E Scribano; M Meduri; R Di Perri
Journal:  Neuroradiology       Date:  1987       Impact factor: 2.804

  2 in total

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