@article{79042e9b8fc14e3e9dd9072d4062e164,
title = "The protean presentations of XK disease (McLeod syndrome): a case series with new observations and updates on previously reported families",
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 = "acanthocytosis, chorea, McLeod, neurodegeneration, XK",
author = "Walker, {Ruth H.} and Mariana Barreto and Bateman, {James R.} and Bustamante, {M. Leonor} and Graham Chiu and Scott Feitell and Frey, {Beat M.} and Patricio Guerra and Sofia Guerrero and Jung, {Hans H.} and Fernando Maldonado and Eduardo Meyer and Marcelo Miranda and Emelie McFarland and Patricia Oates and Gorka Ochoa and Karin Olsson and Martin Paucar and Proschle, {Jonatan Alvarez} and Sammler, {Esther M.} and Monica Troncoso and Rachel Wu-Wallace and Leo Young and Sunitha Vege and Westhoff, {Connie M.} and Adrian Danek",
note = "Publisher Copyright: Copyright {\textcopyright} 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.",
year = "2024",
month = sep,
day = "9",
doi = "10.3389/fnins.2024.1408105",
language = "English",
volume = "18",
journal = "Frontiers in Neuroscience",
issn = "1662-4548",
publisher = "Frontiers Media",
}