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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

References

REFERENCES

1. Herbert, PN, Assmann, G, Gotto, AM , Fredrickson, DS. Familial lipoprotein deficiency: abetalipoproteinemia, hypobetalipoproteinemia and Tangier disease. In: Stanbury, JB, Wyngaarden, JB, Fredickson, DS, Goldstein, JL, Brown, MS, eds. Metabolic basis of inherited disease. McGraw-Hill Book Company, New York, 1983; 589–621.Google Scholar
2. Estes, JE, Morley, TJ, Levine, IM, Emerson, CP. A new hereditary acanthocytosis syndrome. Amer J Med 1967; 42: 868–881.CrossRefGoogle ScholarPubMed
3. Levine, IM, Estes, JW, Looney, JM. Hereditary neurological disease with acanthocytosis. Arch Neurol 1968; 19: 403–409.Google Scholar
4. Bird, TD, Cederbaum, S, Valpey, RW, Stahl, WL. Familial degeneration of the basal ganglia with acanthocytosis: a clinical, neuropathological and neurochemical study. Ann Neurol 1978; 3: 253–258.CrossRefGoogle ScholarPubMed
5. Dubowitz, V, Brooke, MH. Muscle biopsy: a modern approach Ch 4 p 100 W.B. Saunders Co Ltd, London 1973.Google Scholar
6. Brooke, MH, Engel, WK. The histographic analysis of human muscle biopsies with regard to fibre types. Neurology 1969; 19: 378–393.Google Scholar
7. Kito, S, Itoga, E, Hiroshige, Y, Matsumoto, N, Muva, SA. Pedigree of amyotrophic chorea with acanthocytosis. Arch Neurol 1980; 37: 514–517.CrossRefGoogle ScholarPubMed
8. Sakai, T, Mawatari, S, Iwashita, H, Goto, I, Kuroiwa, Y. Chorea-acanthocytosis clues to clinical diagnosis. Arch Neurol 1981; 38: 335–338.CrossRefGoogle ScholarPubMed
9. Critchley, EMR, Clarck, DB, Wilker, A. Acanthocytosis and neurological disorder without betalipoproteinemia. Arch Neurol 1968; 134–140.Google Scholar
10. Critchley, EMR, Nicholson, JT, Betts, JJ, Weatherall, DJ. Acanthocytosis, normolipoproteinemia and multiple tics. Post graduate Med J 1970; 46: 698–701.Google Scholar
11. Amminoff, MJ. Acanthocytosis and neurological disease. Brain 1972; 95: 749–760.Google Scholar
12. Ohnishi, A, Soto, Y, Nagara, H, Sakai, T, Iwashita, H, Kuroiwa, Y, Nakamura, T, Shida, K. Neurogenic muscular atrophy and low density of large myelinated fibres of sural nerve in chorea-acanthocytosis. J Neurol Neurosurg Psychiat 1981; 44: 645–648.Google Scholar
13. Limos, LC, Ohnishi, A, Sakai, T, Fujii, N, Goto, I, Kuroiwa, Y. “Myopathic” changes in chorea acanthocytosis. Neurol Sci 1982; 55: 49–58.CrossRefGoogle ScholarPubMed
14. Gross, KB, Skrivanek, JA, Carlson, KC, Kaufman, DM. Familial amyotrophic chorea with acanthocytosis. Arch Neurol 1985; 42: 753–756.CrossRefGoogle ScholarPubMed
15. Schwartz, SA, Marsh, WL, Symmans, A, et al. New clinical features of McLeod syndrome. Abstracted Transfusion 1982; 22: 404.Google Scholar
16. Spitz, MC, Jankovic, J, Killan, J. Familial tic disorder, parkinsonism, motor neuron disease and acanthocytosis: a new syndrome. Neurology 1985; 35: 366–370.CrossRefGoogle ScholarPubMed
17. Sakai, T, Iwashita, H, Kakugawa, M. Neuroacanthocytosis syndrome and choreoacanthocytosis: Levine-Critchiey syndrome. Neurology 1985; 35: 1679.Google Scholar
18. Spencer, SE, Walker, FO, Moore, SA. Chorea-amyotrophy with chronic hemolytic anemia: a variant of chorea-amyotrophy with acanthocytosis. Neurology 1987;37: 645–649.Google Scholar