title: Phenotypic variability of a distinct deletion in McLeod syndrome.
abstract: The X-linked McLeod neuroacanthocytosis syndrome strongly resembles Huntington's disease and has been reported in various countries world-wide. Herein, we report two Chilean brothers with predominant psychiatric features at disease onset including schizophrenia-like psychosis and obsessive compulsive disorder. Molecular genetic analysis revealed a small deletion in the XK gene (938-942delCTCTA), which has been already described in a North American patient of Anglo-Saxon descent and a Japanese family, presenting with seizures, muscle atrophy or chorea yet absence of psychiatric features. These findings argue against a founder effect and indicate a profound phenotypic variability associated with the 938-942delCTCTA deletion. Our report supports the inclusion of McLeod syndrome in the differential diagnosis of Huntington's disease as well as acute psychosis in male subjects.
authors.affiliation: Department of Neurology, Clinica Las Condes, Santiago, Chile.
authors.forename: Marcelo
authors.initials: M
authors.lastname: Miranda
authors.forename: Claudia
authors.initials: C
authors.lastname: Castiglioni
authors.forename: Beat M
authors.initials: BM
authors.lastname: Frey
authors.forename: Martin
authors.initials: M
authors.lastname: Hergersberg
authors.forename: Adrian
authors.initials: A
authors.lastname: Danek
authors.forename: Hans H
authors.initials: HH
authors.lastname: Jung
mesh_terms: D026921:Amino Acid Transport Systems, Neutral / Q000235:genetics*; D002819:Chorea / Q000150:complications / Q000235:genetics* / Q000473:pathology; D004252:DNA Mutational Analysis; D040181:Genetic Diseases, X-Linked / Q000150:complications / Q000235:genetics* / Q000473:pathology; D006801:Humans; D008279:Magnetic Resonance Imaging / Q000379:methods; D008297:Male; D008875:Middle Aged; D010641:Phenotype; D017384:Sequence Deletion; D035781:Siblings; D014057:Tomography, X-Ray Computed / Q000379:methods
chemical_list: D026921:Amino Acid Transport Systems, Neutral; C087883:XK protein, human