Jung
Fakultäten » Medizinische Fakultät » Neurologie, Klinik für » PD Dr. Hans H. Jung » Jung
Current research project
| Title / Titel | McLeod neuroacanthocytosis syndrome | ||||||
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| Abstract (PDF, 14 KB) | |||||||
| Summary / Zusammenfassung | McLeod syndrome (MIM 314850) is an X-linked multi-system disorder with hematological, neuromuscular, and CNS involvement. It is characterized by absent expression of the Kx RBC antigen, weak expression of Kell RBC antigens, and acanthocytosis. Neuromuscular manifestations include myopathy, sensory-motor axonal neuropathy, and cardiomyopathy. CNS manifestations resemble Huntington’s disease, and comprise a choreatic movement disorder, neuropsychiatric abnormalities, and generalized epileptic seizures. McLeod syndrome is caused by mutations of the XK gene encoding the XK protein, a putative membrane transport protein of yet unknown function that contains the Kx erythrocyte antigen. Available data suggest an important role of the XK/Kell-complex in apoptosis regulation. We perform several studies (magnetic resonance imaging, volumetry, and spectroscopy, brain pathology, muscle histology, hematology) to study the clinical and pathological characteristics, and to elucidate the pathophysiology of the disorder in the setting of an international network of neuroacanthocytosis specialists. |
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| Publications / Publikationen | Hewer E, Danek A, Schoser BG, Miranda M, Reichard R, Castiglioni C, Oechsner M, Goebel HH, Heppner FL, Jung HH (2007). McLeod myopathy revisited – more neurogenic and less benign. Brain 130: 3285-3296Walker RH, Jung HH, Dobson-Stone C, Rampoldi L, Sano A, Tison F, Danek A (2007) Neurologic phenotypes associated with acanthocytosis. Neurology; 68:92-98.Dydak U, Mueller S, Sandor PS, Meier D, Boesiger P, Jung HH (2006) Cerebral metabolic alterations in McLeod syndrome. Eur Neurol; 56:17-23.Walker RH, Jung HH, Tison F, Lee S, Danek A (2007) Phenotypic variation among brothers with the McLeod neuroacanthocytosis syndrome. Mov Disord; 22: 244-247.Danek A, Jung HH, Landwehrmeyer B, Melone MAB, Rampoldi L, Broccoli V, Walker RH (2005) Neuroacanthocytosis: new developments in a neglected group of dementing disorders. J Neurol Sci; 15:229-230.Jung HH, Danek A, Dobson-Stone C, Redman C (2004) McLeod Neuroacanthocytosis Syndrome. In: GeneReviews at GeneTests: Medical Genetics Information Resource [database online]. Copyright, University of Washington, Seattle, 1997-2004. Available at http://www.genetests.orgJung HH, Haker H (2004) Schizophrenia as a manifestation of X-linked McLeod-neuroacanthocytosis syndrome. J Clin Psychiatry; 65: 722-723Jung HH, Hergersberg M, Vogt M, Pahnke J, Treyer V, Röthlisberger B, Kollias SS, Russo D, Frey BM (2003) McLeod phenotype associated with a XK missense mutation without hematological, neuromuscular, or cerebral involvement. Transfusion; 43: 928-938Jung HH, Brandner S (2002) Malignant McLeod myopathy. Muscle Nerve; 26: 424-427Jung HH, Russo D, Redman C, Brandner S (2001) Kell and XK immunohistochemistry in McLeod myopathy. Muscle Nerve 24: 1346-1351Jung HH, Hergersberg M, Kneifel S, Alkadhi H, Schiess R, Weigell-Weber M, Daniels G, Kollias S, Hess K (2001) McLeod Syndrome: A novel mutation, predominant psychiatric manifestations, and distinct striatal imaging findings. Ann Neurol 49: 384-392. | ||||||
| Keywords / Suchbegriffe | McLeod, neuroacanthocytosis, acanthocyte, CNS, PNS, chorea syndrome | ||||||
| Project leadership and contacts / Projektleitung und Kontakte |
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| Funding source(s) / Unterstützt durch |
Foundation Mutaxia Foundation |
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| In collaboration with / In Zusammenarbeit mit |
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| Duration of Project / Projektdauer | Jan 2003 to Dec 2012 |