Case Report: McLeod syndrome caused by a nonsense variant c.484C > T (p.Gln162Ter) in the

Introduction: McLeod syndrome (MLS) is a rare X-linked neuroacanthocytosis caused by pathogenic variants in Methods: Clinical, laboratory, imaging, electrophysiologic, immunohematologic, and genetic data were extracted from the proband's medical records, with targeted evaluation of first-degree relatives. The variant was interpreted according to ACMG/AMP criteria; ColabFold v1.5.5 was used for Results: A 59-year-old man was admitted with an 8-year history of progressive gait disturbance and choreiform movements, later accompanied by cognitive decline and distal-predominant upper limb weakness. Examination showed generalized areflexia, markedly elevated creatine kinase, bilateral caudate head atrophy on brain MRI, and axonal sensorimotor polyneuropathy on nerve conduction velocity (NCV) testing, with chronic neurogenic changes on needle electromyography (EMG). Peripheral smear revealed acanthocytosis in more than 60% of red blood cells, and serologic testing demonstrated markedly reduced reactivity with anti-Kell (K) and anti-Cellano (k) antibodies, suggesting reduced or absent Kx antigen and supporting a McLeod phenotype; whole-exome sequencing identified a hemizygous Conclusion: This family broadens the ethnic and clinical spectrum associated with the