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Phenotypic variation among brothers with the McLeod neuroacanthocytosis syndrome
Author(s) -
Walker Ruth H.,
Jung Hans H.,
Tison François,
Lee Soohee,
Danek Adrian
Publication year - 2006
Publication title -
movement disorders
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.352
H-Index - 198
eISSN - 1531-8257
pISSN - 0885-3185
DOI - 10.1002/mds.21224
Subject(s) - phenotype , genotype , disease , movement disorders , genetics , biology , medicine , pathology , gene
McLeod syndrome is an X‐linked multisystem disorder affecting red blood cells, the peripheral and central nervous systems, and skeletal and cardiac muscle. No clear correlations of the clinical findings with the genotype of XK mutations have yet been uncovered. Here, we report the clinical features and progression in 10 affected brothers from 4 families with McLeod syndrome. There is significant variation in clinical presentation within families, including in causes of morbidity and mortality. This phenotypic variation, despite shared mutations, suggests the action of disease‐modifying factors that may explain some of the difficulties with genotype–phenotype correlation in McLeod syndrome. © 2006 Movement Disorder Society