Gene: XK
Location Xp21.1
Inheritance: X-linked
Males are affected. Females may show some neurological findings.
It may be occur with X-linked chronic granulomatous disease as a result of a contiguous gene deletion in Xp21.
Clinical findings:
(1) CNS manifestations (Huntington-like syndrome) may include:
(1a) progressive chorea
(1b) cognitive impairment, which may be late-onset
(1c) psychiatric
(2) variable sensorineural axonopathy
(3) myopathy with muscle weakness
(4) dilated cardiomyopathy
(5) atrial fibrillation and/or tachyarrhythmias
Laboratory findings
(1) failure to express Kx resulting n Kell-negative red blood cells
(2) unexplained elevated of CK
(3) elevated ESR
(4) acanthocytosis of RBCs
Neuroimaging findings:
(1) may be normal, especially early in course
(2) variable atrophy of caudate nucelus and putamen
(3) variable white matter alterations
