Four affected members of the family carried the frameshift mutation in the XK gene: one manifesting female heterozygote, and three male carriers. Two further heterozygote females with the mutation were also examined. The mean age of onset was 24.3 years (22-27) for the affected males, and 51 years for the affected female. The duration of the disease calculated from age of onset to age of death was 8 years (7-9) in the affected males. Seizures were the presenting features in three out of four cases, and chorea/tics in one case. Chorea and tics were present during the course of the disease in three out of the four cases. Two cases showed mild psychiatric features such as personality change and distractibility. Cognitive decline, predominantly frontal lobe dysfunction, was noted in one. All four cases had clinical or electophysiological evidence of neuropathy and elevated CK levels.
The level of acanthocytes was recorded at 20-30% in affected members of the family and 5-10% in asymptomatic female carriers.
The two further female carriers were asymptomatic but on examination had are-flexia and mild choreiform movements associated with acanthocytosis and raised CK levels.
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