BACKGROUND: The X-linked McLeod syndrome belongs to the group of neuroacanthocytosis syndromes and has a Huntington-disease-like phenotype with a choreatic movement disorder, cognitive alterations, and psychiatric symptoms. Another neuroacanthocytosis syndrome, the autosomal recessive chorea-acanthocytosis, has a similar presentation, but distinct clinical features, believed to be characteristic, such as tongue protrusion dystonia, feeding dystonia, and rubber-man-like appearance. METHODS: This work comprised a case series of 3 patients with McLeod syndrome. RESULTS: The 3 patients with McLeod syndrome developed severe feeding dystonia and tongue protrusion as well as rubber-man-like appearance in 1 patient during the course of the disease. CONCLUSION: These observations indicate that there is an extended phenotypic overlap between McLeod syndrome and chorea-acanthocytosis.
BACKGROUND: The X-linked McLeod syndrome belongs to the group of neuroacanthocytosis syndromes and has a Huntington-disease-like phenotype with a choreatic movement disorder, cognitive alterations, and psychiatric symptoms. Another neuroacanthocytosis syndrome, the autosomal recessive chorea-acanthocytosis, has a similar presentation, but distinct clinical features, believed to be characteristic, such as tongue protrusion dystonia, feeding dystonia, and rubber-man-like appearance. METHODS: This work comprised a case series of 3 patients with McLeod syndrome. RESULTS: The 3 patients with McLeod syndrome developed severe feeding dystonia and tongue protrusion as well as rubber-man-like appearance in 1 patient during the course of the disease. CONCLUSION: These observations indicate that there is an extended phenotypic overlap between McLeod syndrome and chorea-acanthocytosis.
Authors: Rainer Prohaska; Ody C M Sibon; Dobrila D Rudnicki; Adrian Danek; Susan J Hayflick; Esther M Verhaag; Jan J Vonk; Russell L Margolis; Ruth H Walker Journal: Neurobiol Dis Date: 2012-03-09 Impact factor: 5.996
Authors: Nester Mitchell; Gaynel A LaTouche; Beverly Nelson; Karla P Figueroa; Ruth H Walker; Andrew K Sobering Journal: Tremor Other Hyperkinet Mov (N Y) Date: 2019-09-13