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Familial Amyotrophic Chorea With Acanthocytosis: New Clinical and Laboratory Investigations

Familial Amyotrophic Chorea With Acanthocytosis: New Clinical and Laboratory Investigations Abstract • A 46-year-old man, the son of normal nonconsanguinous parents, had a rare progressive neurological illness that began in midlife and was characterized by seizures, buccolingual dyskinesia, orofacial tics, choreiform movements, areflexia, and neurogenic muscle atrophy. Acanthocytosis was present. The serum creatine kinase level was elevated and normobetalpoproteinemia was noted. A brother had a similar disorder. These clinical and laboratory characteristics are consistent with those of previously reported cases of neuroacanthocytosis, ie, familial amyotrophic chorea with acanthocytosis (FACWA). Features not previously reported in cases of FACWA and noted in our index patient are as follows: (1) an increased level of free sialic acid was detected in the serum; (2) haloperidol administered in high doses decreased the orofacial tics; (3) absence of the McLeod blood group phenotype was noted; and (4) Hispanic-Puerto Rican ancestry was documented. References 1. Aminoff MJ: Acanthocytosis and neurological disease . Brain 1972;95:749-760.Crossref 2. Bird TD, Cederbaum S, Valpey RW, et al: Familial degeneration of the basal ganglia with acanthocytosis: A clinical, neuropathological and neurochemical study . Ann Neurol 1978;3:253-258.Crossref 3. Critchley EMR, Clark DB, Wikler A: Acanthocytosis and neurological disorder without abetalipoproteinemia . Arch Neurol 1968;18:134-140.Crossref 4. Critchley EMR, Nicholson JT, Betts JJ, et al: Acanthocytosis, normolipoproteinemia and multiple tics . Postgrad Med J 1970;46:698-701.Crossref 5. Estes JW, Morley TJ, Levine IM, et al: A new hereditary acanthocytosis syndrome . Am J Med 1967;42:868-881.Crossref 6. Kito S, Itoga E, Hiroshege Y, et al: A pedigree of amyotrophic chorea with acanthocytosis . Arch Neurol 1980;37:514-517.Crossref 7. Sakai T, Mawatari S, Iwashitu H, et al: Choreoacanthocytosis: Clues to clinical diagnosis . Arch Neurol 1981;38:335-338.Crossref 8. Warren L: The thiobarbituric acid assay of sialic acids . J Biol Chem 1959;234:1971-1975. 9. Cederbaum S, Haywood D, Aigner R, et al: Progressive chorea, dementia and acanthocytosis: A genocopy of Huntington's chorea, abstracted . Clin Res 1971;19:177. 10. Levine IM, Estes JW, Looney JM: Hereditary neurological disease with acanthocytosis . Arch Neurol 1968;19:403-409.Crossref 11. Yamamoto T, Genjiro H, Shimazaki K, et al: Movement disorders of familial neuroacanthocytosis syndrome . Arch Neurol 1982;39:298-301.Crossref 12. Bassen FA, Kornzweig AL: Malformation of erythrocytes in a case of atypical retinitis pigmentosa . Blood 1950;5:381-387. 13. Becroft DMO, Costello JM, Scott PJ: Abetalipoproteinemia (Bassen-Kornzweig syndrome): Report of a case . Arch Dis Child 1965; 40:40-46.Crossref 14. Cooper RA, Durocher JR, Leslie MH: Decreased fluidity of red cell membrane lipids in abetalipoproteinemia . J Clin Invest 1977;60:115-121.Crossref 15. Schwartz JF, Rowland LP, Eder H, et al: Bassen-Kornzweig syndrome: Deficiency of serum β-lipoprotein . Arch Neurol 1963;8:438-454.Crossref 16. Symmans WA, Shepherd CS, Marsh WL, et al: Hereditary acanthocytosis associated with McLeod phenotype of the Kell blood group system . Br J Haematol 1979;42:575-583.Crossref 17. Biemer JJ: Acanthocytosis: Biochemical and physiological considerations . Ann Clin Lab Sci 1980;10:238-249. 18. Galey WR, Evan AP, Van Nice PS, et al: Morphology and physiology of the McLeod erythrocyte . Vox Sung 1978;34:152-161.Crossref 19. Schwartz SA, Marsh WL, Symmans A, et al: 'New' clinical features of McLeod syndrome, abstracted . Transfusion 1982;22:404. 20. Scheinberg P: Disorders of movement, tone and coordination , in Modern Practical Neurology , ed 2. New York, Raven Press, 1981, pp 87-112. 21. Maury P: Increased excretion of two sialic acid-containing trisaccharides in the urine of patients with rheumatoid arthritis . Eur J Clin Invest 1978;8:405-409.Crossref 22. Maury CPJ, Sjoblom C, Wegelius O: Urinary excretion of sialic acid-containing saccharides in systemic lupus erythematosus . Arthritis Rheum 1981;24:1137-1141.Crossref 23. Papadopoulos NM, McLane JE, O'Doherty D, et al: Cerebrospinal fluid neuraminic acid in parkinsonism and schizophrenia . J Nerv Ment Dis 1959;128:450-452.Crossref 24. Papadopoulos NM: Sialic acid in cerebral tissue in neurological disease . Excerpta Medica Int Congress Series 1961;38:84. 25. Gross KB, Skrivanek JA, Emeson EE: Ganglioside abnormality in amyotrophic chorea with acanthocytosis . Lancet 1982;2:772.Crossref http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Archives of Neurology American Medical Association

Familial Amyotrophic Chorea With Acanthocytosis: New Clinical and Laboratory Investigations

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Publisher
American Medical Association
Copyright
Copyright © 1985 American Medical Association. All Rights Reserved.
ISSN
0003-9942
eISSN
1538-3687
DOI
10.1001/archneur.1985.04210090017005
Publisher site
See Article on Publisher Site

Abstract

Abstract • A 46-year-old man, the son of normal nonconsanguinous parents, had a rare progressive neurological illness that began in midlife and was characterized by seizures, buccolingual dyskinesia, orofacial tics, choreiform movements, areflexia, and neurogenic muscle atrophy. Acanthocytosis was present. The serum creatine kinase level was elevated and normobetalpoproteinemia was noted. A brother had a similar disorder. These clinical and laboratory characteristics are consistent with those of previously reported cases of neuroacanthocytosis, ie, familial amyotrophic chorea with acanthocytosis (FACWA). Features not previously reported in cases of FACWA and noted in our index patient are as follows: (1) an increased level of free sialic acid was detected in the serum; (2) haloperidol administered in high doses decreased the orofacial tics; (3) absence of the McLeod blood group phenotype was noted; and (4) Hispanic-Puerto Rican ancestry was documented. References 1. Aminoff MJ: Acanthocytosis and neurological disease . Brain 1972;95:749-760.Crossref 2. Bird TD, Cederbaum S, Valpey RW, et al: Familial degeneration of the basal ganglia with acanthocytosis: A clinical, neuropathological and neurochemical study . Ann Neurol 1978;3:253-258.Crossref 3. Critchley EMR, Clark DB, Wikler A: Acanthocytosis and neurological disorder without abetalipoproteinemia . Arch Neurol 1968;18:134-140.Crossref 4. Critchley EMR, Nicholson JT, Betts JJ, et al: Acanthocytosis, normolipoproteinemia and multiple tics . Postgrad Med J 1970;46:698-701.Crossref 5. Estes JW, Morley TJ, Levine IM, et al: A new hereditary acanthocytosis syndrome . Am J Med 1967;42:868-881.Crossref 6. Kito S, Itoga E, Hiroshege Y, et al: A pedigree of amyotrophic chorea with acanthocytosis . Arch Neurol 1980;37:514-517.Crossref 7. Sakai T, Mawatari S, Iwashitu H, et al: Choreoacanthocytosis: Clues to clinical diagnosis . Arch Neurol 1981;38:335-338.Crossref 8. Warren L: The thiobarbituric acid assay of sialic acids . J Biol Chem 1959;234:1971-1975. 9. Cederbaum S, Haywood D, Aigner R, et al: Progressive chorea, dementia and acanthocytosis: A genocopy of Huntington's chorea, abstracted . Clin Res 1971;19:177. 10. Levine IM, Estes JW, Looney JM: Hereditary neurological disease with acanthocytosis . Arch Neurol 1968;19:403-409.Crossref 11. Yamamoto T, Genjiro H, Shimazaki K, et al: Movement disorders of familial neuroacanthocytosis syndrome . Arch Neurol 1982;39:298-301.Crossref 12. Bassen FA, Kornzweig AL: Malformation of erythrocytes in a case of atypical retinitis pigmentosa . Blood 1950;5:381-387. 13. Becroft DMO, Costello JM, Scott PJ: Abetalipoproteinemia (Bassen-Kornzweig syndrome): Report of a case . Arch Dis Child 1965; 40:40-46.Crossref 14. Cooper RA, Durocher JR, Leslie MH: Decreased fluidity of red cell membrane lipids in abetalipoproteinemia . J Clin Invest 1977;60:115-121.Crossref 15. Schwartz JF, Rowland LP, Eder H, et al: Bassen-Kornzweig syndrome: Deficiency of serum β-lipoprotein . Arch Neurol 1963;8:438-454.Crossref 16. Symmans WA, Shepherd CS, Marsh WL, et al: Hereditary acanthocytosis associated with McLeod phenotype of the Kell blood group system . Br J Haematol 1979;42:575-583.Crossref 17. Biemer JJ: Acanthocytosis: Biochemical and physiological considerations . Ann Clin Lab Sci 1980;10:238-249. 18. Galey WR, Evan AP, Van Nice PS, et al: Morphology and physiology of the McLeod erythrocyte . Vox Sung 1978;34:152-161.Crossref 19. Schwartz SA, Marsh WL, Symmans A, et al: 'New' clinical features of McLeod syndrome, abstracted . Transfusion 1982;22:404. 20. Scheinberg P: Disorders of movement, tone and coordination , in Modern Practical Neurology , ed 2. New York, Raven Press, 1981, pp 87-112. 21. Maury P: Increased excretion of two sialic acid-containing trisaccharides in the urine of patients with rheumatoid arthritis . Eur J Clin Invest 1978;8:405-409.Crossref 22. Maury CPJ, Sjoblom C, Wegelius O: Urinary excretion of sialic acid-containing saccharides in systemic lupus erythematosus . Arthritis Rheum 1981;24:1137-1141.Crossref 23. Papadopoulos NM, McLane JE, O'Doherty D, et al: Cerebrospinal fluid neuraminic acid in parkinsonism and schizophrenia . J Nerv Ment Dis 1959;128:450-452.Crossref 24. Papadopoulos NM: Sialic acid in cerebral tissue in neurological disease . Excerpta Medica Int Congress Series 1961;38:84. 25. Gross KB, Skrivanek JA, Emeson EE: Ganglioside abnormality in amyotrophic chorea with acanthocytosis . Lancet 1982;2:772.Crossref

Journal

Archives of NeurologyAmerican Medical Association

Published: Aug 1, 1985

References