Neuroacanthocytosis denotes a group of uncommon heterogenous neurodegenerative disorders associated with acanthocytosis in the absence of any lipid abnormality. A variety of modes of inheritance have been proposed (X linked and autosomal recessive are clearly described, but a recent report of dominantly inherited chorea acanthocytosis1 appears to be caused by Huntington’s disease-like type 2 expansions in the junctophilin-3 gene2) and mutations in two genes have been identified, the XK gene (in the X linked McLeod phenotype) and the CHAC gene (9q21; autosomal recessive)3. A wide variety of clinical features including chorea, orofaciolingual dyskinesia, dysphagia, dysarthria, peripheral neuropathy, myopathy, seizures, and dementia has been described in these disorders.
Nicholl, D.J., Sutton, I., Dotti, M., Supple, S.G., Danek, A., Lawden, M. (2004). White matter abnormalities on MRI in neuroacanthocytosis. JOURNAL OF NEUROLOGY, NEUROSURGERY AND PSYCHIATRY, 75(8), 1200-1207 [10.1136/jnnp.2003.026781].
White matter abnormalities on MRI in neuroacanthocytosis
DOTTI, M.;
2004-01-01
Abstract
Neuroacanthocytosis denotes a group of uncommon heterogenous neurodegenerative disorders associated with acanthocytosis in the absence of any lipid abnormality. A variety of modes of inheritance have been proposed (X linked and autosomal recessive are clearly described, but a recent report of dominantly inherited chorea acanthocytosis1 appears to be caused by Huntington’s disease-like type 2 expansions in the junctophilin-3 gene2) and mutations in two genes have been identified, the XK gene (in the X linked McLeod phenotype) and the CHAC gene (9q21; autosomal recessive)3. A wide variety of clinical features including chorea, orofaciolingual dyskinesia, dysphagia, dysarthria, peripheral neuropathy, myopathy, seizures, and dementia has been described in these disorders.File | Dimensione | Formato | |
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https://hdl.handle.net/11365/9029
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