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

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

Neurology

Research output: Contribution to journal › Article › peer-review

11 Scopus citations

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.

Original language	English (US)
Pages (from-to)	293-299
Number of pages	7
Journal	Parkinsonism and Related Disorders
Volume	64
DOIs	https://doi.org/10.1016/j.parkreldis.2019.04.022
State	Published - Jul 2019

Bibliographical note

Funding Information:
Tuite P: Research grants from: Biogen, University of Minnesota, NIH, Northwestern University and MJ Fox Foundation, Bristols-Myers Squibb, and General Electric.

Funding Information:
Sarva H: 5% support from the Michael J Fox Foundation, received clinical trial support from Intec, Insightec, and Lundbeck Pharmaceuticals, and has received some internal funding from Weill Cornell Medicine.

Publisher Copyright:
© 2019 Elsevier Ltd

Keywords

McLeod syndrome
Neuroacanthocytosis
Obstructive sleep apnea
hyperCKemia

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10.1016/j.parkreldis.2019.04.022

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@article{d4a4beee15cc401b80213835524b7b13,

title = "McLeod syndrome: Five new pedigrees with novel mutations",

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",

author = "J. Weaver and H. Sarva and D. Barone and S. Bobker and K. Bushara and A. Hiller and M. Ishii and J. Jankovic and S. Lakhani and K. Niotis and Scharre, {D. W.} and P. Tuite and A. Stutz and Westhoff, {C. M.} and Walker, {R. H.}",

note = "Funding Information: Tuite P: Research grants from: Biogen, University of Minnesota, NIH, Northwestern University and MJ Fox Foundation, Bristols-Myers Squibb, and General Electric. Funding Information: Sarva H: 5% support from the Michael J Fox Foundation, received clinical trial support from Intec, Insightec, and Lundbeck Pharmaceuticals, and has received some internal funding from Weill Cornell Medicine. Publisher Copyright: {\textcopyright} 2019 Elsevier Ltd",

year = "2019",

month = jul,

doi = "10.1016/j.parkreldis.2019.04.022",

language = "English (US)",

volume = "64",

pages = "293--299",

journal = "Parkinsonism and Related Disorders",

issn = "1353-8020",

publisher = "Elsevier BV",

}

TY - JOUR

T1 - McLeod syndrome

T2 - Five new pedigrees with novel mutations

AU - Weaver, J.

AU - Sarva, H.

AU - Barone, D.

AU - Bobker, S.

AU - Bushara, K.

AU - Hiller, A.

AU - Ishii, M.

AU - Jankovic, J.

AU - Lakhani, S.

AU - Niotis, K.

AU - Scharre, D. W.

AU - Tuite, P.

AU - Stutz, A.

AU - Westhoff, C. M.

AU - Walker, R. H.

N1 - Funding Information: Tuite P: Research grants from: Biogen, University of Minnesota, NIH, Northwestern University and MJ Fox Foundation, Bristols-Myers Squibb, and General Electric. Funding Information: Sarva H: 5% support from the Michael J Fox Foundation, received clinical trial support from Intec, Insightec, and Lundbeck Pharmaceuticals, and has received some internal funding from Weill Cornell Medicine. Publisher Copyright: © 2019 Elsevier Ltd

PY - 2019/7

Y1 - 2019/7

N2 - 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.

AB - 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.

KW - McLeod syndrome

KW - Neuroacanthocytosis

KW - Obstructive sleep apnea

KW - hyperCKemia

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SN - 1353-8020

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JO - Parkinsonism and Related Disorders

JF - Parkinsonism and Related Disorders

ER -

McLeod syndrome: Five new pedigrees with novel mutations

Abstract

Bibliographical note

Keywords

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