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- Basal Ganglia Syndrome in a Male With an XK Gene Variant but Without XK Disease (McLeod Syndrome)
- Jeryl Ritzi T. Yu, Ruth H. Walker, Adrian Danek, Connie M. Westhoff, Sunitha Vege, Ilia Itin
- J Mov Disord. 2024;17(2):226-229. Published online January 8, 2024
- DOI: https://doi.org/10.14802/jmd.23196
- 1,271 View
- 57 Download
- Comment on “Chorea as a Presentation of SARS-CoV-2 Encephalitis: A Clinical Case Report”
- Ruth H. Walker
- J Mov Disord. 2022;15(1):93-93. Published online December 7, 2021
- DOI: https://doi.org/10.14802/jmd.21068
- 3,541 View
- 116 Download
- 1 Web of Science
- 1 Crossref
Viewpoint
- Recent Advances in the Development of Experimental Therapeutics for Levodopa-Induced Dyskinesia
- Michael L. Martini, Sean N. Neifert, J Mocco, Fedor Panov, Winona Tse, Ruth H. Walker, Jian Jin, Fiona Gupta
- J Mov Disord. 2019;12(3):161-165. Published online September 30, 2019
- DOI: https://doi.org/10.14802/jmd.19029
- 6,783 View
- 204 Download
- 2 Web of Science
- 1 Crossref
Review Article
- Untangling the Thorns: Advances in the Neuroacanthocytosis Syndromes
- Ruth H. Walker
- J Mov Disord. 2015;8(2):41-54. Published online May 31, 2015
- DOI: https://doi.org/10.14802/jmd.15009
- 29,474 View
- 375 Download
- 42 Web of Science
- 36 Crossref
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Abstract
PDF - There have been significant advances in neuroacanthocytosis (NA) syndromes in the past 20 years, however, confusion still exists regarding the precise nature of these disorders and the correct nomenclature. This article seeks to clarify these issues and to summarise the recent literature in the field. The four key NA syndromes are described here–chorea-acanthocytosis, McLeod syndrome, Huntington’s disease-like 2, and pantothenate kinase- associated neurodegeneration. In the first two, acanthocytosis is a frequent, although not invariable, finding; in the second two, it occurs in approximately 10% of patients. Degeneration affecting the basal ganglia is the key neuropathologic finding, thus the clinical presentations can be remarkably similar. The characteristic phenotype comprises a variety of movement disorders, including chorea, dystonia, and parkinsonism, and also psychiatric and cognitive symptoms attributable to basal ganglia dysfunction. The age of onset, inheritance patterns, and ethnic background differ in each condition, providing diagnostic clues. Other investigations, including routine blood testing and neuroimaging can be informative. Genetic diagnosis, if available, provides a definitive diagnosis, and is important for genetic counseling, and hopefully molecular therapies in the future. In this article I provide a historical perspective on each NA syndrome. The first 3 disorders, chorea-acanthocytosis, McLeod syndrome, Huntington’s disease-like 2, are discussed in detail, with a comprehensive review of the literature to date for each, while pantothenate kinase-associated neurodegeneration is presented in summary, as this disorder has recently been reviewed in this journal. Therapy for all of these diseases is, at present, purely symptomatic.
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Citations
Citations to this article as recorded by
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