Familial amyotrophic chorea with acanthocytosis. New clinical and laboratory investigations
K. B. Gross, J. A. Skrivanek, K. C. Carlson and D. M. Kaufman
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 normobetalipoproteinemia 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: an increased
level of free sialic acid was detected in the serum; haloperidol
administered in high doses decreased the orofacial tics; absence of the
McLeod blood group phenotype was noted; and Hispanic-Puerto Rican ancestry
was documented.
