Frontiers in Neuroscience (Sep 2024)
The protean presentations of XK disease (McLeod syndrome): a case series with new observations and updates on previously reported families
- Ruth H. Walker,
- Ruth H. Walker,
- Mariana Barreto,
- James R. Bateman,
- James R. Bateman,
- M. Leonor Bustamante,
- M. Leonor Bustamante,
- Graham Chiu,
- Scott Feitell,
- Beat M. Frey,
- Patricio Guerra,
- Sofia Guerrero,
- Hans H. Jung,
- Fernando Maldonado,
- Eduardo Meyer,
- Marcelo Miranda,
- Marcelo Miranda,
- Emelie McFarland,
- Patricia Oates,
- Gorka Ochoa,
- Karin Olsson,
- Martin Paucar,
- Martin Paucar,
- Jonatan Alvarez Proschle,
- Esther M. Sammler,
- Monica Troncoso,
- Rachel Wu-Wallace,
- Rachel Wu-Wallace,
- Leo Young,
- Sunitha Vege,
- Connie M. Westhoff,
- Adrian Danek
Affiliations
- Ruth H. Walker
- Department of Neurology, James J. Peters Veterans Affairs Medical Center, New York, NY, United States
- Ruth H. Walker
- Department of Neurology, Mount Sinai School of Medicine, 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
- James R. Bateman
- Department of Neurology, Wake Forest University School of Medicine, Winston-Salem, NC, United States
- M. Leonor Bustamante
- Diagnosis Foundation, Santiago, Chile
- M. Leonor Bustamante
- Human Genetics Program, Faculty of Medicine, Biomedical Sciences Institute, University of Chile, Santiago, Chile
- Graham Chiu
- Rheumatologist, Palmerston North, New Zealand
- Scott Feitell
- Rochester Regional Health, Sands-Constellation Heart Institute, Rochester, NY, United States
- Beat M. Frey
- Regional Blood Transfusion Service, Swiss Red Cross, Zurich, Switzerland
- Patricio Guerra
- 0School of Medicine, University San Sebastián, Puerto Montt, Chile
- Sofia Guerrero
- 1Hospital De Castro, Los Lagos, Chile
- Hans H. Jung
- 2Department of Neurology, University Hospital, Zurich, Switzerland
- Fernando Maldonado
- 3Servicio Salud Reloncaví, Puerto Montt, Chile
- Eduardo Meyer
- Regional Blood Transfusion Service, Swiss Red Cross, Zurich, Switzerland
- Marcelo Miranda
- Diagnosis Foundation, Santiago, Chile
- Marcelo Miranda
- 4Clínica Meds, Lo Barnechea, 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 Health, Sands-Constellation Heart Institute, Rochester, NY, United States
- Gorka Ochoa
- 5New York Blood Center Enterprises, New York, NY, United States
- Karin Olsson
- 6Department of Neurology, Karolinska University Hospital, Stockholm, Sweden
- Martin Paucar
- 6Department of Neurology, Karolinska University Hospital, Stockholm, Sweden
- Martin Paucar
- 7Department of Clinical Neuroscience, Karolinska Institutet, Stockholm, Sweden
- Jonatan Alvarez Proschle
- 8Independent Researcher, Puerto Varas, Chile
- Esther M. Sammler
- 9University of Dundee, School of Medicine, Dundee, Scotland
- Monica Troncoso
- 0Hospital 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
- Rachel Wu-Wallace
- 1UCLA Semel Institute for Neuroscience & Human Behavior, Los Angeles, CA, 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
- 5New York Blood Center Enterprises, New York, NY, United States
- Connie M. Westhoff
- 5New York Blood Center Enterprises, New York, NY, United States
- Adrian Danek
- 2Department of Neurology, LMU University Hospital, LMU Munich, Munich, Germany
- DOI
- https://doi.org/10.3389/fnins.2024.1408105
- Journal volume & issue
-
Vol. 18
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.
Keywords
