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

Authors

Ruth H. Walker, Department of Neurology, James J. Peters Veterans Affairs Medical Center, New York, NY, United States.
Mariana Barreto, Diagnosis Foundation, Santiago, Chile.
James R. Bateman, Mental Health Service Line and the Mental Illness Research, Education, and Clinical Center, W.G. (Bill) Hefner Salisbury Veterans Affairs Medical Center, Salisbury, NC, United States.
M Leonor Bustamante, Diagnosis Foundation, Santiago, Chile.
Graham Chiu, Rheumatologist, Palmerston North, New Zealand.
Scott Feitell, Rochester Regional HealthFollow
Beat M. Frey, Regional Blood Transfusion Service, Swiss Red Cross, Zurich, Switzerland.
Patricio Guerra, School of Medicine, University San Sebastián, Puerto Montt, Chile.
Sofia Guerrero, Hospital De Castro, Los Lagos, Chile.
Hans H. Jung, Department of Neurology, University Hospital, Zurich, Switzerland.
Fernando Maldonado, Servicio Salud Reloncaví, Puerto Montt, Chile.
Eduardo Meyer, Regional Blood Transfusion Service, Swiss Red Cross, Zurich, Switzerland.
Marcelo Miranda, Diagnosis Foundation, Santiago, Chile.
Emelie McFarland, Mental Health Service Line and the Mental Illness Research, Education, and Clinical Center, W.G. (Bill) Hefner Salisbury Veterans Affairs Medical Center, Salisbury, NC, United States.
Patricia Oates, Rochester Regional HealthFollow
Gorka Ochoa, New York Blood Center Enterprises, New York, NY, United States.
Karin Olsson, Department of Neurology, Karolinska University Hospital, Stockholm, Sweden.
Martin Paucar, Department of Neurology, Karolinska University Hospital, Stockholm, Sweden.
Jonatan Alvarez Proschle, Independent Researcher, Puerto Varas, Chile.
Esther M. Sammler, University of Dundee, School of Medicine, Dundee, Scotland.
Monica Troncoso, Hospital San Borja Arriaran, University of Chile, Santiago, Chile.
Rachel Wu-Wallace, Mental Health Service Line and the Mental Illness Research, Education, and Clinical Center, W.G. (Bill) Hefner Salisbury Veterans Affairs Medical Center, Salisbury, NC, United States.
Leo Young, Mental Health Service Line and the Mental Illness Research, Education, and Clinical Center, W.G. (Bill) Hefner Salisbury Veterans Affairs Medical Center, Salisbury, NC, United States.
Sunitha Vege, New York Blood Center Enterprises, New York, NY, United States.
Connie M. Westhoff, New York Blood Center Enterprises, New York, NY, United States.
Adrian Danek, Department of Neurology, LMU University Hospital, LMU Munich, Munich, Germany.

Department

Cardiology

Document Type

Article

Publication Title

Frontiers in Neuroscience

Abstract

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.

First Page

1408105

DOI

10.3389/fnins.2024.1408105

Volume

18

Publication Date

9-1-2024

PubMed ID

39315078

Recommended Citation

Walker, R. H., Barreto, M., Bateman, J. R., Bustamante, M. L., Chiu, G., Feitell, S., Frey, B. M., Guerra, P., Guerrero, S., Jung, H. H., Maldonado, F., Meyer, E., Miranda, M., McFarland, E., Oates, P., Ochoa, G., Olsson, K., Paucar, M., Proschle, J. A., Sammler, E. M., Troncoso, M., Wu-Wallace, R., Young, L., Vege, S., Westhoff, C. M., & Danek, A. (2024). The protean presentations of XK disease (McLeod syndrome): a case series with new observations and updates on previously reported families. Frontiers in Neuroscience, 18, 1408105. https://doi.org/10.3389/fnins.2024.1408105