Literature DB >> 3804706

Amyotrophic choreoacanthocytosis: is it really a very rare disease?

S Serra, A Arena, A Xerra, A M Gugliotta, S Galatioto.   

Abstract

Amyotrophic choreoacanthocytosis (ACA) is a hereditary disease characterized by adult onset, hyperkinesias (with tongue and/or lip biting), neurogenic muscular atrophies, acanthocytosis and normal blood lipoprotein pattern. In this paper we cite 8 patients belonging to three families, describing 6 patients of two of the families. We query the supposed rarity of the disease.

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Year:  1986        PMID： 3804706     DOI： 10.1007/bf02342031

Source DB:  PubMed          Journal:  Ital J Neurol Sci        ISSN： 0392-0461


  9 in total

1.  Acanthocytosis and neurological disease.

Authors:  M J Aminoff
Journal:  Brain       Date:  1972       Impact factor: 13.501

2.  Hereditary neurological disease with acanthocytosis. A new syndrome.

Authors:  I M Levine; J W Estes; J M Looney
Journal:  Arch Neurol       Date:  1968-10

3.  Acanthocytosis and neurological disorder without betalipoproteinemia.

Authors:  E M Critchley; D B Clark; A Wikler
Journal:  Arch Neurol       Date:  1968-02

4.  Acanthocytosis, normolipoproteinaemia and multiple tics.

Authors:  E M Critchley; J T Nicholson; J J Betts; D J Weatherall
Journal:  Postgrad Med J       Date:  1970-12       Impact factor: 2.401

5.  Familial degeneration of the basal ganglia with acanthocytosis: a clinical, neuropathological, and neurochemical study.

Authors:  T D Bird; S Cederbaum; R W Valey; W L Stahl
Journal:  Ann Neurol       Date:  1978-03       Impact factor: 10.422

6.  Chorea-acanthocytosis. Neurological disease with acanthocytosis.

Authors:  K A Sotaniemi
Journal:  Acta Neurol Scand       Date:  1983-07       Impact factor: 3.209

7.  Familial amyotrophic chorea with acanthocytosis. New clinical and laboratory investigations.

Authors:  K B Gross; J A Skrivanek; K C Carlson; D M Kaufman
Journal:  Arch Neurol       Date:  1985-08

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

Authors:  S Serra; A Xerra; A Arena
Journal:  Acta Neurol Scand       Date:  1986-05       Impact factor: 3.209

9.  Choreoacanthocytosis. Clues to clinical diagnosis.

Authors:  T Sakai; S Mawatari; H Iwashita; I Goto; Y Kuroiwa
Journal:  Arch Neurol       Date:  1981-06
  9 in total
  3 in total

1.  Amyotrophic choreo-acanthocytosis: a neuropathological and immunocytochemical study.

Authors:  S Galatioto; S Serra; D Batolo; T Marafioti
Journal:  Ital J Neurol Sci       Date:  1993-01

2.  Chorea-acanthocytosis: genetic linkage to chromosome 9q21.

Authors:  J P Rubio; A Danek; C Stone; R Chalmers; N Wood; C Verellen; X Ferrer; A Malandrini; G M Fabrizi; M Manfredi; J Vance; M Pericak-Vance; R Brown; G Rudolf; F Picard; E Alonso; M Brin; A H Németh; M Farrall; A P Monaco
Journal:  Am J Hum Genet       Date:  1997-10       Impact factor: 11.025

Review 3.  Untangling the Thorns: Advances in the Neuroacanthocytosis Syndromes.

Authors:  Ruth H Walker
Journal:  J Mov Disord       Date:  2015-05-31
  3 in total

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