Phenotypic variability of a distinct deletion in McLeod syndrome.
Identifieur interne : 002758 ( PubMed/Curation ); précédent : 002757; suivant : 002759Phenotypic variability of a distinct deletion in McLeod syndrome.
Auteurs : Marcelo Miranda [Chili] ; Claudia Castiglioni ; Beat M. Frey ; Martin Hergersberg ; Adrian Danek ; Hans H. JungSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2007.
English descriptors
- KwdEn :
- Amino Acid Transport Systems, Neutral (genetics), Chorea (complications), Chorea (genetics), Chorea (pathology), DNA Mutational Analysis, Genetic Diseases, X-Linked (complications), Genetic Diseases, X-Linked (genetics), Genetic Diseases, X-Linked (pathology), Humans, Magnetic Resonance Imaging (methods), Male, Middle Aged, Phenotype, Sequence Deletion, Siblings, Tomography, X-Ray Computed (methods).
- MESH :
- chemical , genetics : Amino Acid Transport Systems, Neutral.
- complications : Chorea, Genetic Diseases, X-Linked.
- genetics : Chorea, Genetic Diseases, X-Linked.
- methods : Magnetic Resonance Imaging, Tomography, X-Ray Computed.
- pathology : Chorea, Genetic Diseases, X-Linked.
- DNA Mutational Analysis, Humans, Male, Middle Aged, Phenotype, Sequence Deletion, Siblings.
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.
DOI: 10.1002/mds.21536
PubMed: 17469188
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Frey</name></author><author><name sortKey="Hergersberg, Martin" sort="Hergersberg, Martin" uniqKey="Hergersberg M" first="Martin" last="Hergersberg">Martin Hergersberg</name></author><author><name sortKey="Danek, Adrian" sort="Danek, Adrian" uniqKey="Danek A" first="Adrian" last="Danek">Adrian Danek</name></author><author><name sortKey="Jung, Hans H" sort="Jung, Hans H" uniqKey="Jung H" first="Hans H" last="Jung">Hans H. 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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.</div></front></TEI><pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">17469188</PMID><DateCreated><Year>2007</Year><Month>07</Month><Day>30</Day></DateCreated><DateCompleted><Year>2008</Year><Month>04</Month><Day>16</Day></DateCompleted><Article PubModel="Print"><Journal><ISSN IssnType="Electronic">1531-8257</ISSN><JournalIssue CitedMedium="Internet"><Volume>22</Volume><Issue>9</Issue><PubDate><Year>2007</Year><Month>Jul</Month><Day>15</Day></PubDate></JournalIssue><Title>Movement disorders : official journal of the Movement Disorder Society</Title><ISOAbbreviation>Mov. 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