The first report of a Chinese family with McLeod syndrome

Man, Bik Ling; Yuen, Yuet-Ping; Fu, Yat Pang

doi:10.1136/bcr-2013-202785

Cited by 6 publications

(6 citation statements)

References 10 publications

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“…As an alternative to DNA analyses, chorein detection by Western blot is an inexpensive method for diagnosing ChAc, and Kell antigen phenotyping can be performed to diagnose MLS. 55,62 In view of the prevalence of NA syndromes in countries such as the United Kingdom and Germany (approximately 3 in 10 million), the number of NA patients in China should be at least 400 and appears to be underestimated. In addition to raising awareness among Chinese neurologists, the absence of specific molecular tests is the main diagnostic flaw that needs to be addressed.…”

Section: Discussionmentioning

confidence: 99%

Neuroacanthocytosis in China: A Review of Published Reports

Liu

Bader

Danek

2014

Tremor and Other Hyperkinetic Movements

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Background: Neuroacanthocytosis (NA) syndromes are a group of rare diseases characterized by the presence of acanthocytes and neuronal multisystem pathology, including chorea-acanthocytosis (ChAc), McLeod syndrome (MLS), Huntington's disease-like 2 (HDL-2), and pantothenate kinase-associated neurodegeneration (PKAN). China has the largest population in the world, which makes it a good location for investigating rare diseases like NA. Methods: We searched Medline, ISI Proceedings, China National Knowledge Infrastructure, and Wanfang Data for literature published through December 31, 2013 for all the published Chinese NA case reports and extracted the clinical and laboratory findings. Results: A total of 42 studies describing 66 cases were found to be eligible for inclusion. Age of symptom onset ranged from 5 to 74 years. The most common findings included hyperkinetic movements (88%), orofacial dyskinesia (80%), dystonia (67%), and dysarthria (68%), as well as caudate atrophy or enlarged lateral ventricles on neuroimaging (64%), and elevated creatine kinase (52%). Most cases were not confirmed by any specific molecular tests. Only two cases were genetically studied and diagnosed as ChAc or MLS. Discussion: In view of the prevalence of NA syndromes in other countries, the number of patients in China appears to be underestimated. Chinese NA patients may benefit from the establishment of networks that offer specific diagnoses and care for rare diseases.

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Section: Discussionmentioning

confidence: 99%

Neuroacanthocytosis in China: A Review of Published Reports

Liu

Bader

Danek

2014

Tremor and Other Hyperkinetic Movements

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“…About 78% of MLS patients (7/9) had CK above 1000 U/L, whereas only one of six ChAc patient reached this level. Moreover, MLS patients can have muscle complaints with mild involuntary movements, which often lead to a confusion with myopathy [4,5]. However, the EMG usually show axonal neuropathy, so sometimes these patients can be misdiagnosed with Kennedy's disease, which is also an X-link disorder manifests with proximal weakness, hyperCKemia, and axonal neuropathymimic EMG [20].…”

Section: Discussionmentioning

confidence: 99%

“…It is estimated that there are likely a few hundred of MLS patients and around one thousand ChAc patients in the world [2]. Although more than 50 NA patients have so far been reported in China [3][4][5][6][7][8][9][10][11][12], most of which were not confirmed by specific molecular tests [3]. The distribution of pathogenic variants within XK and VPS13A has not been conclusively determined in China.…”

mentioning

confidence: 99%

Clinical heterogeneity and novel pathogenic variants of Chinese patients with neuroacanthocytosis

Zhang

et al. 2020

Preprint

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Background Neuroacanthocytosis (NA) syndromes are a group of exceedingly rare diseases, including McLeod syndrome (MLS) and chorea-acanthocytosis (ChAc). The characteristic phenotypes comprise a variety of movement disorders, including chorea, dystonia, and parkinsonism. We aimed to investigate the clinical heterogeneity and novel pathogenic variants of Chinese patients with neuroacanthocytosis. Results Three novel XK variants (c.942G > A, c.970A > T, c.422_423del) were identified in three index MLS patients and three novel VPS13A variants (c.3817C > T, c.9219C > A, c.3467T > A) in two index ChAc patients. In addition, we summarized the genotypes and phenotypes of reported MLA patients and ChAc patients in the Chinese population. Conclusion Our study expands the genetic spectrum of XK and VPS13A and helps the clinical diagnosis of neuroacanthocytosis.

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“…McLeod syndrome has been reported in many ethnic groups, including patients from Japan [ 101 , 116 ], Chile [ 117 , 118 ], China [ 119 ], and Taiwan, although it is probably significantly rarer than ChAc.…”

Section: Mcleod Syndromementioning

confidence: 99%

Untangling the Thorns: Advances in the Neuroacanthocytosis Syndromes

Walker

2015

JMD

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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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The first report of a Chinese family with McLeod syndrome

Cited by 6 publications

References 10 publications

Neuroacanthocytosis in China: A Review of Published Reports

Neuroacanthocytosis in China: A Review of Published Reports

Clinical heterogeneity and novel pathogenic variants of Chinese patients with neuroacanthocytosis

Untangling the Thorns: Advances in the Neuroacanthocytosis Syndromes

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