TY - JOUR
T1 - Familial Amyotrophic Chorea with Acanthocytosis
T2 - New Clinical and Laboratory Investigations
AU - Gross, Kenneth B.
AU - Skrivanek, Joseph A.
AU - Carlson, Kenneth C.
AU - Kaufman, David M.
PY - 1985/8
Y1 - 1985/8
N2 - 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.
AB - 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.
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U2 - 10.1001/archneur.1985.04210090017005
DO - 10.1001/archneur.1985.04210090017005
M3 - Article
C2 - 4026606
AN - SCOPUS:0021808536
SN - 0003-9942
VL - 42
SP - 753
EP - 756
JO - Archives of Neurology
JF - Archives of Neurology
IS - 8
ER -