McLeod Neuroacanthocytosis Syndrome

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

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