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

TY - JOUR

T1 - The protean presentations of XK disease (McLeod syndrome)

T2 - a case series with new observations and updates on previously reported families

AU - Walker, Ruth H.

AU - Barreto, Mariana

AU - Bateman, James R.

AU - Bustamante, M. Leonor

AU - Chiu, Graham

AU - Feitell, Scott

AU - Frey, Beat M.

AU - Guerra, Patricio

AU - Guerrero, Sofia

AU - Jung, Hans H.

AU - Maldonado, Fernando

AU - Meyer, Eduardo

AU - Miranda, Marcelo

AU - McFarland, Emelie

AU - Oates, Patricia

AU - Ochoa, Gorka

AU - Olsson, Karin

AU - Paucar, Martin

AU - Proschle, Jonatan Alvarez

AU - Sammler, Esther M.

AU - Troncoso, Monica

AU - Wu-Wallace, Rachel

AU - Young, Leo

AU - Vege, Sunitha

AU - Westhoff, Connie M.

AU - Danek, Adrian

N1 - Publisher Copyright: 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.

PY - 2024/9/9

Y1 - 2024/9/9

N2 - 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.

AB - 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.

KW - acanthocytosis

KW - chorea

KW - McLeod

KW - neurodegeneration

KW - XK

UR - https://www.scopus.com/pages/publications/85204764251

U2 - 10.3389/fnins.2024.1408105

DO - 10.3389/fnins.2024.1408105

M3 - Article

C2 - 39315078

AN - SCOPUS:85204764251

SN - 1662-4548

VL - 18

JO - Frontiers in Neuroscience

JF - Frontiers in Neuroscience

M1 - 1408105

ER -