A patient with McLeod syndrome showing involvement of the central sensorimotor tracts for the legs

Murakami, Takenobu; Abe, Dan; Matsumoto, Hideyuki; Tokimura, Ryo; Abe, Mitsunari; Tiksnadi, Amanda; Kobayashi, Shunsuke; Kaneko, Chikako; Urata, Yuka; Nakamura, Masayuki; Sano, Akira; Ugawa, Yoshikazu

doi:10.1186/s12883-019-1526-9

Cited by 4 publications

(4 citation statements)

References 14 publications

(18 reference statements)

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“…Also, Kell antigen expression was remarkably reduced from the XK KO erythroblasts, consistent with previous findings in humans. 40 For GYPB KO, initial evaluation was the presence of mixed clones with two band patterns; apparent wild type (long band) and confirmed KO (short band). A few GYPB KO hiPSC mixed clones were differentiated from erythroblasts.…”

Section: Discussionmentioning

confidence: 99%

Generation of ‘designer erythroblasts’ lacking one or more blood group systems from CRISPR/Cas9 gene‐edited human‐induced pluripotent stem cells

Pandey

Zhang

Curtis

et al. 2021

J Cellular Molecular Medi

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Section: Discussionmentioning

confidence: 99%

Generation of ‘designer erythroblasts’ lacking one or more blood group systems from CRISPR/Cas9 gene‐edited human‐induced pluripotent stem cells

Pandey

Zhang

Curtis

et al. 2021

J Cellular Molecular Medi

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“…The CCCT can be used to accurately estimate CST conduction time, even in neurological disorders involving peripheral nerves. 64 65 …”

Section: Neurophysiological Parametersmentioning

confidence: 99%

Central and Peripheral Motor Conduction Studies by Single-Pulse Magnetic Stimulation

Matsumoto,

Ugawa

2024

J Clin Neurol

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Single-pulse magnetic stimulation is the simplest type of transcranial magnetic stimulation (TMS). Muscle action potentials induced by applying TMS over the primary motor cortex are recorded with surface electromyography electrodes, and they are called motor-evoked potentials (MEPs). The amplitude and latency of MEPs are used for various analyses in clinical practice and research. The most commonly used parameter is the central motor conduction time (CMCT), which is measured using motor cortical and spinal nerve stimulation. In addition, stimulation at the foramen magnum or the conus medullaris can be combined with conventional CMCT measurements to evaluate various conduction parameters in the corticospinal tract more precisely, including the cortical–brainstem conduction time, brainstem–root conduction time, cortical–conus motor conduction time, and cauda equina conduction time. The cortical silent period is also a useful parameter for evaluating cortical excitability. Single-pulse magnetic stimulation is further used to analyze not only the central nervous system but also the peripheral nervous system, such as for detecting lesions in the proximal parts of peripheral nerves. In this review article we introduce four types of single-pulse magnetic stimulation—of the motor cortex, spinal nerve, foramen magnum, and conus medullaris—that are useful for the diagnosis, elucidation of pathophysiology, and evaluation of clinical conditions and therapeutic effects. Single-pulse magnetic stimulation is a clinically useful technique that all neurologists should learn.

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“…EDITED BY Beat M. Frey, SRK, Switzerland REVIEWED BY male carriers (Murakami et al, 2019). The condition can easily be confused with extrapyramidal diseases due to its rarity and high heterogeneity in clinical symptoms.…”

Section: Open Accessmentioning

confidence: 99%

“…Therefore, the red blood cells of McLeod syndrome patients lack the Kx antigen, accompanied by a severe decrease in the Kell antigen expression, which is called the McLeod phenotype ( Floch et al, 2021 ). As the XK gene is located on the X chromosome, McLeod syndrome is usually found in male carriers ( Murakami et al, 2019 ). The condition can easily be confused with extrapyramidal diseases due to its rarity and high heterogeneity in clinical symptoms.…”

Section: Introductionmentioning

confidence: 99%

A case of McLeod syndrome caused by a nonsense variation c.942G>A in the XK gene: A case report

Ying

Zhang

et al. 2023

Front. Genet.

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McLeod syndrome is a rare XK gene-related progressive, debilitating disease involving multiple systems. The blood group phenotypes in McLeod syndrome patients usually display the Kx antigen loss and a decrease in the Kell blood group system antigen expression. This paper describes a 41-year-old male Chinese patient with McLeod syndrome. He first attended a hospital in 2015 and developed progressively worsening symptoms 4 years ago. As the disease progressed, the patient exhibited memory loss, unresponsiveness, and chorea and displayed elevated creatine kinase levels. However, McLeod syndrome could not be diagnosed by these signs and laboratory results. The patient was readmitted to the hospital in 2020 and was suspected of having McLeod syndrome. Serological analysis of the Kell blood group system and genotyping for the XK blood group system were performed, revealing the weak expression of the K antigen and the negative K antigen. Sequencing of the coding region of the XK gene showed a hemizygous c.942G>A variation in the XK gene, which resulted in a premature stop codon at position 314 (p.Trp314Ter). Therefore, the patient was diagnosed with McLeod syndrome. In conclusion, this paper presents a case of McLeod syndrome caused by a nonsense variation c.942G>A in the XK gene. The analysis of the XK gene and blood group antigen is helpful for the diagnosis of McLeod syndrome and for distinguishing it from many other diseases.

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A patient with McLeod syndrome showing involvement of the central sensorimotor tracts for the legs

Cited by 4 publications

References 14 publications

Generation of ‘designer erythroblasts’ lacking one or more blood group systems from CRISPR/Cas9 gene‐edited human‐induced pluripotent stem cells

Generation of ‘designer erythroblasts’ lacking one or more blood group systems from CRISPR/Cas9 gene‐edited human‐induced pluripotent stem cells

Central and Peripheral Motor Conduction Studies by Single-Pulse Magnetic Stimulation

A case of McLeod syndrome caused by a nonsense variation c.942G>A in the XK gene: A case report

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