Chorea-Acanthocytosis Genotype in the Original Critchley Kentucky Neuroacanthocytosis Kindred by Velayos-Baeza, A, Holinski-Feder, E, Neitzel, B, Bader, B, Critchley, E, Monaco, A, Danek, A, Walker, R

“…Objective: Todetermine the molecular nature of the neurological disease in the seminal family reported by Critchley et al inthe 1960s, characterized by a hyperkinetic movement disorder and the appearance of acanthocytosis on peripheral blood smear. The eponym Levine-Critchley syndrome, subsequently termed neuroacanthocytosis, has been applied to symptomatically similar, but genetically distinct, disorders, resulting in clinical and diagnostic confusion. …”

Chorea-acanthocytosis genotype in the original critchley kentucky neuroacanthocytosis kindred. by Velayos-Baeza, A, Holinski-Feder, E, Neitzel, B, Bader, B, Critchley, E, Monaco, A, Danek, A, Walker, R

“…OBJECTIVE: To determine the molecular nature of the neurological disease in the seminal family reported by Critchley et al in the 1960s, characterized by a hyperkinetic movement disorder and the appearance of acanthocytosis on peripheral blood smear. The eponym Levine-Critchley syndrome, subsequently termed neuroacanthocytosis, has been applied to symptomatically similar, but genetically distinct, disorders, resulting in clinical and diagnostic confusion. …”

McLeod neuroacanthocytosis: genotype and phenotype. by Danek, A, Rubio, J, Rampoldi, L, Ho, M, Dobson-Stone, C, Tison, F, Symmans, W, Oechsner, M, Kalckreuth, W, Watt, J, Corbett, A, Hamdalla, H, Marshall, A, Sutton, I, Dotti, M, Malandrini, A, Walker, R, Daniels, G, Monaco, A

“…Fifteen different XK mutations were found, nine of which were novel, including the one of the eponymous case McLeod. Their common result is predicted absence or truncation of the XK protein. …”