Untangling the Thorns: Advances in the Neuroacanthocytosis Syndromes
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 fiel...
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| Format: | Article |
| Language: | English |
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Korean Movement Disorder Society
2015-05-01
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| Series: | Journal of Movement Disorders |
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| Online Access: | http://e-jmd.org/upload/jmd-8-2-41.pdf |
| _version_ | 1827881432477859840 |
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| author | Ruth H. Walker |
| author_facet | Ruth H. Walker |
| author_sort | Ruth H. Walker |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-03-12T18:38:03Z |
| format | Article |
| id | doaj.art-a2e31a576139482d959be310b4266517 |
| institution | Directory Open Access Journal |
| issn | 2005-940X 2093-4939 |
| language | English |
| last_indexed | 2024-03-12T18:38:03Z |
| publishDate | 2015-05-01 |
| publisher | Korean Movement Disorder Society |
| record_format | Article |
| series | Journal of Movement Disorders |
| spelling | doaj.art-a2e31a576139482d959be310b42665172023-08-02T07:55:39ZengKorean Movement Disorder SocietyJournal of Movement Disorders2005-940X2093-49392015-05-0182415410.14802/jmd.15009129Untangling the Thorns: Advances in the Neuroacanthocytosis SyndromesRuth H. Walker0 Department of Neurology, James J. Peters Veterans Affairs Medical Center, Bronx, NY, USAThere 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.http://e-jmd.org/upload/jmd-8-2-41.pdfNeuroacanthocytosisChoreaChorea-acanthocytosisMcLeod syndromeAcanthocytesHuntington’s disease-like 2 |
| spellingShingle | Ruth H. Walker Untangling the Thorns: Advances in the Neuroacanthocytosis Syndromes Journal of Movement Disorders Neuroacanthocytosis Chorea Chorea-acanthocytosis McLeod syndrome Acanthocytes Huntington’s disease-like 2 |
| title | Untangling the Thorns: Advances in the Neuroacanthocytosis Syndromes |
| title_full | Untangling the Thorns: Advances in the Neuroacanthocytosis Syndromes |
| title_fullStr | Untangling the Thorns: Advances in the Neuroacanthocytosis Syndromes |
| title_full_unstemmed | Untangling the Thorns: Advances in the Neuroacanthocytosis Syndromes |
| title_short | Untangling the Thorns: Advances in the Neuroacanthocytosis Syndromes |
| title_sort | untangling the thorns advances in the neuroacanthocytosis syndromes |
| topic | Neuroacanthocytosis Chorea Chorea-acanthocytosis McLeod syndrome Acanthocytes Huntington’s disease-like 2 |
| url | http://e-jmd.org/upload/jmd-8-2-41.pdf |
| work_keys_str_mv | AT ruthhwalker untanglingthethornsadvancesintheneuroacanthocytosissyndromes |