Phenotypic variability of a distinct deletion in McLeod syndrome |
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| Authors: | Marcelo Miranda MD Claudia Castiglioni MD Beat M Frey MD Martin Hergersberg PhD Adrian Danek MD Hans H Jung MD |
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| Institution: | 1. Department of Neurology, Clinica Las Condes, Santiago, Chile;2. Regional Blood Transfusion Service SRC, Zürich, Switzerland;3. Department of Molecular Biology, Cantonal Hospital Aarau, Switzerland;4. Neurologische Klinik, Ludwig‐Maximilians‐Universit?t, Munich, Germany;5. Department of Neurology, University Hospital Zürich, SwitzerlandDepartment of Neurology, University Hospital Zürich, 8091 Zürich, Switzerland |
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| 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. © 2007 Movement Disorder Society |
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| Keywords: | McLeod syndrome neuroacanthocytosis chorea |
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