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  Vol. 42 No. 8, August 1985 TABLE OF CONTENTS
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Familial Amyotrophic Chorea With Acanthocytosis

New Clinical and Laboratory Investigations

Kenneth B. Gross, MD; Joseph A. Skrivanek, PhD; Kenneth C. Carlson; David M. Kaufman, MD

Arch Neurol. 1985;42(8):753-756.


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.



Author Affiliations

From the Departments of Medicine (Dr Gross) and Neurology (Drs Gross, Skrivanek, and Kaufman), Montefiore Hospital and Medical Center and the Albert Einstein College of Medicine, Bronx, NY; and the Division of Natural Sciences, SUNY College at Purchase, NY (Dr Skrivanek and Mr Carlson).


Footnotes

Accepted for publication July 3, 1984.

Reprint requests to Department of Neurology, Montefiore Hospital and Medical Center, 111 E 210th St, Bronx, NY 10467 (Dr Gross).



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