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Chorea-Acanthocytosis: Report of a Family and Neuropathological Study of Two Cases

Published online by Cambridge University Press:  18 September 2015

Ma. Elisa Alonso ,
Fernanda Teixeira ,
Guillermo Jimenez  and
Alfonso Escobar
Ma. Elisa Alonso*
Affiliation:
Department of Genetics, National Institute of Neurology and Neurosurgery of Neurobiology Istituto de Investigaciones Biomédica, México,D.F.
Fernanda Teixeira
Affiliation:
Department of Experimental Neuropathology, National Institute of Neurology and Neurosurgery of Neurobiology Istituto de Investigaciones Biomédica, México,D.F.
Alfonso Escobar
Affiliation:
Department of Pathology, National Institute of Neurology and Neurosurgery of Neurobiology Istituto de Investigaciones Biomédica, México,D.F.
*
Department of Genetics, Research Division, National Institute of Neurology and Neurosurgery, Insurgentes Sur 3877 C.P. 14410, México, D.F.
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Abstract:

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We report three siblings, offspring of normal consanguineous parents, with a progressive neurological illness that began in midlife and was characterized primarily by chorea and leading to death in the fourth decade. The proband had erythrocyte acanthocytosis with normal serum β-lipoprotein. Biopsy of left gastrocnemius muscle showed neurogenic muscular atrophy. There was a decrease in the numbers of large myelinated axons of the sural nerve. Postmortem examination of two cases showed marked atrophy, neuronal loss and gliosis of the caudate nucleus and putamen. Autosomal recessive inheritance is likely in this family.

Résumé:

RÉSUMÉ:

Nous rapportons le cas de trois membres d'une même famille atteints d'une maladie neurologique progressive ayant débutée à l'âge moyen et caractérisée essentiellement par de la chorée avec décès dans la trentaine. Ils étaient issus de parents normaux mais consanguins. Le cas index avait une acanthocytose érythrocytaire avec une β-lipoprotéine sérique normale. Une biopsie des muscles jumeaux de la jambe gauche a montré une atrophie musculaire neurogénique. Il y avait une diminution du nombre des gros axones myélinisés au niveau de nerf surai. Une autopsie pratiquée sur deux cas a montré une atrophie importante ainsi qu'une perte neuronale et une gliose du noyau caudé et du putamen. Il s'agit vraisemblablement d'une maladie dont l'hérédité est autosomale dominante dans cette famille.

Type
Original Articles
Information
Canadian Journal of Neurological Sciences , Volume 16 , Issue 4 , November 1989 , pp. 426 - 431
Copyright
Copyright © Canadian Neurological Sciences Federation 1989

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