Chorea-Acanthocytosis: Report of a Family and Neuropathological Study of Two Cases

Abstract

ABSTRACT: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.

Neuroacanthocytosis: new developments in a neglected group of dementing disorders

“…It runs a chronic progressive course and may lead to major disability within a few years. Some patients are bed-ridden or wheel-chair dependent by the third decade [61,62]. Life expectancy is reduced and several instances of death during epileptic seizures have been reported.…”

The chorea of McLeod syndrome

“…4 Their movement disorder appears earlier than in McLeod syndrome, and habitual biting of tongue and lips is common. 17,[23][24][25][26][27] The nigrostriatal system seems regularly affected. 8,28,29 Parkinsonism is not uncommon in choreoacanthocytosis but has not yet been observed in McLeod syndrome.…”

Choreoacanthocytosis in a Mexican Family

“…To our knowledge, this is the second report of this disorder in Mexicans. 5,7 Although the same mutation of the VPS13A gene was responsible for the disease, the clinical expression differed between the 2 sisters for age at onset, appearance of neurologic findings, and severity of disease. These findings confirm that clinical heterogeneity seems to be the rule in CHAC.…”