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Amyotrophic choreo‐acanthocytosis: a new observation in southern Europe
Author(s) -
Serra S.,
Xerra A.,
Arena A.
Publication year - 1986
Publication title -
acta neurologica scandinavica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.967
H-Index - 95
eISSN - 1600-0404
pISSN - 0001-6314
DOI - 10.1111/j.1600-0404.1986.tb04589.x
Subject(s) - amyotrophic lateral sclerosis , extrapyramidal disorder , medicine , degenerative disease , atrophy , disease , pathology , pediatrics
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 Puertorican 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.