McLeod syndrome: Five new pedigrees with novel mutations

J Weaver; H Sarva; D Barone; S Bobker; K Bushara; A Hiller; M Ishii; J Jankovic; S Lakhani; K Niotis; D W Scharre; P Tuite; A Stutz; C M Westhoff; R H Walker

doi:10.1016/j.parkreldis.2019.04.022

McLeod syndrome: Five new pedigrees with novel mutations

Parkinsonism Relat Disord. 2019 Jul:64:293-299. doi: 10.1016/j.parkreldis.2019.04.022. Epub 2019 May 2.

Authors

J Weaver¹, H Sarva², D Barone², S Bobker², K Bushara³, A Hiller⁴, M Ishii², J Jankovic⁵, S Lakhani², K Niotis², D W Scharre⁶, P Tuite⁷, A Stutz⁷, C M Westhoff⁸, R H Walker⁹

Affiliations

¹ Department of Neurology, New York Presbyterian-Weill Cornell Medical Center, New York, NY, USA. Electronic address: Jow9039@med.cornell.edu.
² Department of Neurology, New York Presbyterian-Weill Cornell Medical Center, New York, NY, USA.
³ Department of Neurology, University of Minnesota, Minneapolis, MN, USA; Neurology Service, Veterans Affairs Medical Center, Minneapolis, MN, USA.
⁴ Balance Disorders Laboratory, Oregon Health & Science University, Portland, OR, USA.
⁵ Parkinson's Disease Center and Movement Disorders Clinic, Department of Neurology, Baylor College of Medicine, Houston, TX, USA.
⁶ Division of Cognitive Neurology, Department of Neurology, The Ohio State University Wexner Medical Center, Columbus, OH, USA.
⁷ Department of Neurology, University of Minnesota, Minneapolis, MN, USA.
⁸ New York Blood Center, New York, NY, USA.
⁹ Department of Neurology, James J. Peters Veterans Affairs Medical Center, Bronx, NY, USA; Department of Neurology, Mount Sinai School of Medicine, New York City, NY, USA.

PMID: 31103486
DOI: 10.1016/j.parkreldis.2019.04.022

Abstract

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.

Keywords: McLeod syndrome; Neuroacanthocytosis; Obstructive sleep apnea; hyperCKemia.

Publication types

Case Reports
Multicenter Study

MeSH terms

Adult
Amino Acid Transport Systems, Neutral / genetics*
Comorbidity
Creatine Kinase / blood
Europe
Humans
Male
Middle Aged
Mutation
Neuroacanthocytosis / blood
Neuroacanthocytosis / epidemiology
Neuroacanthocytosis / genetics*
Neuroacanthocytosis / physiopathology*
Pedigree
Retrospective Studies
Sleep Apnea, Obstructive / epidemiology
Vietnam

Substances

Amino Acid Transport Systems, Neutral
XK protein, human
Creatine Kinase

Supplementary concepts

Neuroacanthocytosis, Mcleod Type