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ORIGINAL RESEARCH article

Front. Neurosci.
Sec. Neurodegeneration
Volume 18 - 2024 | doi: 10.3389/fnins.2024.1408105
This article is part of the Research Topic Progress in Neuroacanthocytosis Syndromes and Related Diseases Including other Bulk Lipid Transfer Disorders View all 7 articles

The protean presentations of XK disease (McLeod syndrome): A case series with new observations and updates on previously reported families

Provisionally accepted
Ruth H. Walker Ruth H. Walker 1*Mariana Barreto Mariana Barreto 2James Bateman James Bateman 3Maria Leonor Bustamante Maria Leonor Bustamante 2,4Graham Chiu Graham Chiu 5Scott Feitell Scott Feitell 6Beat M. Frey Beat M. Frey 7Patricio Guerra Patricio Guerra 8Sofia Guerrero Sofia Guerrero 9Hans Jung Hans Jung 10Fernando Maldonado Fernando Maldonado 11Eduardo Meyer Eduardo Meyer 7Marcelo Miranda Marcelo Miranda 12,2Emelie McFarland Emelie McFarland 3Patricia Oates Patricia Oates 6Gorky Ochoa Gorky Ochoa 13Karin Olsson Karin Olsson 14Martin Paucar Martin Paucar 14,15Jonatan Proschle Jonatan Proschle 16Esther Sammler Esther Sammler 17Monica Troncoso Monica Troncoso 18Rachel Wu-Wallace Rachel Wu-Wallace 19,3Leo Young Leo Young 3Sunitha Vege Sunitha Vege 13Connie M. Westhoff Connie M. Westhoff 13Adrian Danek Adrian Danek 20
  • 1 Icahn School of Medicine at Mount Sinai, New York, New York, United States
  • 2 Diagnosis Foundation, Santiago, Santiago Metropolitan Region (RM), Chile
  • 3 W. G. (Bill) Hefner VA Medical Center, United States Department of Veterans Affairs, Salisbury, North Carolina, United States
  • 4 Institute of Biomedical Sciences, Faculty of Medicine, University of Chile, Santiago, Santiago Metropolitan Region (RM), Chile
  • 5 Independent researcher, Palmerston North, New Zealand
  • 6 Sands-Constellation Heart Institute, Rochester Regional Health, Rochester, Massachusetts, United States
  • 7 Swiss Red Cross, Bern, Bern, Switzerland
  • 8 Faculty of Medicine and Sciences, San Sebastian University, Santiago, Santiago Metropolitan Region (RM), Chile
  • 9 Castro Hospital, Castro, Chile
  • 10 Department of Neurology, University Hospital Zurich, Zürich, Zürich, Switzerland
  • 11 Servicio Salud del Reloncaví, Llanquihue, Chile
  • 12 Clínica MEDS, Santiago, Santiago Metropolitan Region (RM), Chile
  • 13 New York Blood Center, Bronx, New York, United States
  • 14 Department of Neurology, Karolinska University Hospital, Stockholm, Stockholm, Sweden
  • 15 Department of Clinical Neuroscience, Karolinska Institutet (KI), Stockholm, Stockholm, Sweden
  • 16 Independent researcher, Puerto Varas, Chile
  • 17 University of Dundee, Dundee, Scotland, United Kingdom
  • 18 Hospital San Borja Arriarán, Santiago, Santiago Metropolitan Region (RM), Chile
  • 19 Semel Institute for Neuroscience and Human Behavior, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, California, United States
  • 20 Ludwig Maximilian University of Munich, Munich, Bavaria, Germany

The final, formatted version of the article will be published soon.

    XK disease is a very rare, multi-system disease, which can present with a wide spectrum of symptoms. This disorder can also be identified pre-symptomatically with the incidental detection of serological abnormalities when typing erythrocytes in peripheral blood, or on other routine laboratory testing. Increasing awareness of this disorder and improved access to genetic testing are resulting in increasing identification of affected patients and families. Here we provide updates to some previously-reported families and patients and provide additional clinical details. We also report four new cases with a variety of presentations, one of whom had a novel mutation.

    Keywords: McLeod, XK, Chorea, Acanthocytosis, neurodegeneration

    Received: 27 Mar 2024; Accepted: 09 Aug 2024.

    Copyright: © 2024 Walker, Barreto, Bateman, Bustamante, Chiu, Feitell, Frey, Guerra, Guerrero, Jung, Maldonado, Meyer, Miranda, McFarland, Oates, Ochoa, Olsson, Paucar, Proschle, Sammler, Troncoso, Wu-Wallace, Young, Vege, Westhoff and Danek. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

    * Correspondence: Ruth H. Walker, Icahn School of Medicine at Mount Sinai, New York, 10029, New York, United States

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