|Title||McLeod syndrome: Five new pedigrees with novel mutations.|
|Publication Type||Journal Article|
|Year of Publication||2019|
|Authors||Weaver J, Sarva H, Barone D, Bobker S, Bushara K, Hiller A, Ishii M, Jankovic J, Lakhani S, Niotis K, Scharre DW, Tuite P, Stutz A, Westhoff CM, Walker RH|
|Journal||Parkinsonism Relat Disord|
|Date Published||2019 07|
|Keywords||Adult, Amino Acid Transport Systems, Neutral, Comorbidity, Creatine Kinase, Europe, Humans, Male, Middle Aged, Mutation, Neuroacanthocytosis, Pedigree, Retrospective Studies, Sleep Apnea, Obstructive, Vietnam|
OBJECTIVE: To present five new McLeod Syndrome (MLS) pedigrees with novel XK gene mutations, review the literature of this disorder, and discuss the typical and atypical clinical features noted with these new mutations.
METHODS: This is a multi-center retrospective review of five MLS cases with novel gene mutations. Genotypic and phenotypic information has been obtained from each center.
RESULTS: Five novel mutations are reported in this Case series. New clinical findings include prolonged asymptomatic elevated creatine kinase (CK) levels, vocal tics, presence of obstructive sleep apnea (OSA), and one patient of Vietnamese ethnicity.
CONCLUSIONS: We expand on the clinical and genetic spectrum of MLS demonstrating the clinical variability of MLS.
|Alternate Journal||Parkinsonism Relat. Disord.|