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McLeod neuroacanthocytosis: Genotype and phenotype

Danek, Adrian ; Rubio, Justin P. ; Rampoldi, Luca ; Ho, Mengfatt ; Dobson-Stone, Carol ; Tison, François ; Symmans, William A. ; Oechsner, Matthias ; Kalckreuth, Wolfgang ; Watt, Julie M. ; Corbett, Alastair J. ; Hamdalla, Hisham H. M. ; Marshall, Andrew G. ; Sutton, Ian ; Dotti, Maria Teresa ; Malandrini, Alessandro ; Walker, Ruth H. ; Daniels, Geoff ; Monaco, Anthony P.

Annals of neurology, 2001-12, Vol.50 (6), p.755-764 [Periódico revisado por pares]

New York: John Wiley & Sons, Inc

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Título:
McLeod neuroacanthocytosis: Genotype and phenotype
Autor: Danek, Adrian ; Rubio, Justin P. ; Rampoldi, Luca ; Ho, Mengfatt ; Dobson-Stone, Carol ; Tison, François ; Symmans, William A. ; Oechsner, Matthias ; Kalckreuth, Wolfgang ; Watt, Julie M. ; Corbett, Alastair J. ; Hamdalla, Hisham H. M. ; Marshall, Andrew G. ; Sutton, Ian ; Dotti, Maria Teresa ; Malandrini, Alessandro ; Walker, Ruth H. ; Daniels, Geoff ; Monaco, Anthony P.
Assuntos: Adult ; Age of Onset ; Aged ; Aging ; Amino Acid Transport Systems, Neutral ; Anemias. Hemoglobinopathies ; Biological and medical sciences ; Carrier Proteins - genetics ; Carrier Proteins - metabolism ; Chorea - genetics ; Chorea - physiopathology ; Diseases of red blood cells ; Hematologic and hematopoietic diseases ; Humans ; Kell Blood-Group System ; Male ; Medical sciences ; Membrane Proteins - genetics ; Membrane Proteins - metabolism ; Middle Aged ; Mutation ; Phenotype
É parte de: Annals of neurology, 2001-12, Vol.50 (6), p.755-764
Notas: Affiliations have changed for M. Ho (Cecil B. Day Laboratory for Neuromuscular Research, Massachusetts General Hospital, Harvard Medical School, Charlestown MA), M. Oechsner (Neurologische Klinik der Justus-Liebig-Universität, Giessen, Germany), W. Kalckreuth (private practice, Freiburg, Germany), H. H. M Hamdalla (Hull Royal Infirmary, Hull, UK), A. G. Marshall (Walton Centre for Neurology and Neurosurgery, Liverpool, UK), and J. Rubio (Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria, Australia).
Telethon and the University of Padua
ArticleID:ANA10035
istex:442B32BBE21DAB91F567A4021ADBFD3ED7FA629A
ark:/67375/WNG-M2BWRG13-Z
Howard Florey Fellowship of the Royal Society of London
Affiliations have changed for M. Ho (Cecil B. Day Laboratory for Neuromuscular Research, Massachusetts General Hospital, Harvard Medical School, Charlestown MA), M. Oechsner (Neurologische Klinik der Justus‐Liebig‐Universität, Giessen, Germany), W. Kalckreuth (private practice, Freiburg, Germany), H. H. M Hamdalla (Hull Royal Infirmary, Hull, UK), A. G. Marshall (Walton Centre for Neurology and Neurosurgery, Liverpool, UK), and J. Rubio (Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria, Australia).
Deceased.
ObjectType-Article-1
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Descrição: McLeod syndrome is caused by mutations of XK, an X‐chromosomal gene of unknown function. Originally defined as a peculiar Kell blood group variant, the disease affects multiple organs, including the nervous system, but is certainly underdiagnosed. We analyzed the mutations and clinical findings of 22 affected men, aged 27 to 72 years. 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. All patients showed elevated levels of muscle creatine phosphokinase, but clinical myopathy was less common. A peripheral neuropathy with areflexia was found in all but 2 patients. The central nervous system was affected in 15 patients, as obvious from the occurrence of seizures, cognitive impairment, psychopathology, and choreatic movements. Neuroimaging emphasized the particular involvement of the basal ganglia, which was also detected in 1 asymptomatic young patient. Most features develop with age, mainly after the fourth decade. The resemblance of McLeod syndrome with Huntington's disease and with autosomal recessive chorea‐acanthocytosis suggests that the corresponding proteins—XK, huntingtin, and chorein—might belong to a common pathway, the dysfunction of which causes degeneration of the basal ganglia.
Editor: New York: John Wiley & Sons, Inc
Idioma: Inglês

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McLeod neuroacanthocytosis: Genotype and phenotype

New York: John Wiley & Sons, Inc

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