The non–Huntington disease choreas

Walker, Ruth H.

doi:10.1212/cpj.0000000000000236

Cited by 12 publications

(11 citation statements)

References 21 publications

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“…The next gene ADCY5 , detected by probe cg17482114 , is an enzyme that interacts with RGS2 in humans. ADCY5 is associated with various neurological syndromes in non-cancer tissues and can cause chorea, a type of neurological syndrome (Walker, 2016). The SNPs of ADCY5 are associated with elevated fasting glucose and increased type 2 diabetes risk.…”

Section: Discussionmentioning

confidence: 99%

Screening of Methylation Signature and Gene Functions Associated With the Subtypes of Isocitrate Dehydrogenase-Mutation Gliomas

Pan

Zeng

Yuan

et al. 2019

Front. Bioeng. Biotechnol.

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Isocitrate dehydrogenase (IDH) is an oncogene, and the expression of a mutated IDH promotes cell proliferation and inhibits cell differentiation. IDH exists in three different isoforms, whose mutation can cause many solid tumors, especially gliomas in adults. No effective method for classifying gliomas on genetic signatures is currently available. DNA methylation may be applied to distinguish cancer cells from normal tissues. In this study, we focused on three subtypes of IDH-mutation gliomas by examining methylation data. Several advanced computational methods were used, such as Monte Carlo feature selection (MCFS), incremental feature selection (IFS), support machine vector (SVM), etc. The MCFS method was adopted to analyze methylation features, resulting in a feature list. Then, the IFS method incorporating SVM was applied to the list to extract important methylation features and construct an optimal SVM classifier. As a result, several methylation features (sites) were found to relate to glioma subclasses, which are annotated onto multiple genes, such as FLJ37543, LCE3D, FAM89A, ADCY5, ESR1, C2orf67, REST, EPHA7, etc. These genes are enriched in biological functions, including cellular developmental process, neuron differentiation, cellular component morphogenesis, and G-protein-coupled receptor signaling pathway. Our results, which are supported by literature reports and independent dataset validation, showed that our identified genes and functions contributed to the detailed glioma subtypes. This study provided a basic research on IDH-mutation gliomas.

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Section: Discussionmentioning

confidence: 99%

Screening of Methylation Signature and Gene Functions Associated With the Subtypes of Isocitrate Dehydrogenase-Mutation Gliomas

Pan

Zeng

Yuan

et al. 2019

Front. Bioeng. Biotechnol.

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“…Determining the root cause of HD phenocopies is difficult due to a large number of disease entities giving rise to a HD-like clinical presentation, with an ever increasing number of conditions, most markedly in the last decade ( 4 , 5 ) ( Table 1 ). However, some of these disease entities may exhibit unusual signs highly suggestive of a particular disease, which may serve as “red flag” signs to guide the work-up including the choice of paraclinical tests.…”

Section: Introductionmentioning

confidence: 99%

Combining Literature Review With a Ground Truth Approach for Diagnosing Huntington's Disease Phenocopy

Nguyen

Ortigoza‐Escobar

Burgunder³

et al. 2022

Front. Neurol.

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One percent of patients with a Huntington's disease (HD) phenotype do not have the Huntington (HTT) gene mutation. These are known as HD phenocopies. Their diagnosis is still a challenge. Our objective is to provide a diagnostic approach to HD phenocopies based on medical expertise and a review of the literature. We employed two complementary approaches sequentially: a review of the literature and two surveys analyzing the daily clinical practice of physicians who are experts in movement disorders. The review of the literature was conducted from 1993 to 2020, by extracting articles about chorea or HD-like disorders from the database Pubmed, yielding 51 articles, and analyzing 20 articles in depth to establish the surveys. Twenty-eight physicians responded to the first survey exploring the red flags suggestive of specific disease entities. Thirty-three physicians completed the second survey which asked for the classification of paraclinical tests according to their diagnostic significance. The analysis of the results of the second survey used four different clustering algorithms and the density-based clustering algorithm DBSCAN to classify the paraclinical tests into 1st, 2nd, and 3rd-line recommendations. In addition, we included suggestions from members of the European Reference Network-Rare Neurological Diseases (ERN-RND Chorea & Huntington disease group). Finally, we propose guidance that integrate the detection of clinical red flags with a classification of paraclinical testing options to improve the diagnosis of HD phenocopies.

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“…Chorea is characterized by the presence of fluctuating, brief, and unpredictable involuntary movements [1][2][3]. The diagnosis and management of chorea is frequently challenging, as the condition can be due to a wide variety of causes including neurodegenerative, pharmacological, structural, metabolic, infectious, immunologic and paraneoplastic processes [1][2][3][4][5][6][7][8][9]. In the absence of other apparent causes, ruling out Huntington's disease (HD) is the first step in the diagnostic process [1][2][3][4][5][6][7][8][9][10].…”

Section: Introductionmentioning

confidence: 99%

“…The diagnosis and management of chorea is frequently challenging, as the condition can be due to a wide variety of causes including neurodegenerative, pharmacological, structural, metabolic, infectious, immunologic and paraneoplastic processes [1][2][3][4][5][6][7][8][9]. In the absence of other apparent causes, ruling out Huntington's disease (HD) is the first step in the diagnostic process [1][2][3][4][5][6][7][8][9][10]. Despite an extensive work-up, many cases remain undiagnosed, especially for those patients presenting with Apparent Sporadic Chorea ASC [4,7,8].…”

Section: Introductionmentioning

confidence: 99%

The enduring enigma of sporadic chorea: A single center case series

Garcia Ruiz,

Feliz,

Feliz

et al. 2023

Tremor and Other Hyperkinetic Movements

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Chorea can have a wide variety of causes including neurodegenerative, pharmacological, structural, metabolic, infectious, immunologic and paraneoplastic processes.We reviewed the clinical records of patients with apparently sporadic choreic movements and no relevant family history, who presented to our neurology department (Hospital Fundación Jimenez Diaz) between 1991 and 2022.We detected 38 cases of apparent sporadic chorea (ASC); Our analysis revealed 5 cases of genetic chorea (including 3 cases with Huntington´s disease) while 6 cases were autoimmune/hematological; 6 drug-related chorea, 5 metabolic-vascular, 5 due to miscellaneous conditions and 4 were of mixed etiology. No clear etiology was identified in 8 cases. The differential diagnosis of ASC is extensive and challenging. Highlights• Chorea can have a wide variety of genetic and sporadic causes• We reviewed the clinical records of patients with apparently sporadic chorea (ASC), who presented to our neurology department over the last 30 years • We detected 38 cases of apparent ASC; Our analysis revealed a wide array of different sporadic conditions and 5 cases of genetic chorea • The differential diagnosis of ASC is extensive and challenging Garcia Ruiz et al. Tremor and Other Hyperkinetic Movements

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The non–Huntington disease choreas

Cited by 12 publications

References 21 publications

Screening of Methylation Signature and Gene Functions Associated With the Subtypes of Isocitrate Dehydrogenase-Mutation Gliomas

Screening of Methylation Signature and Gene Functions Associated With the Subtypes of Isocitrate Dehydrogenase-Mutation Gliomas

Combining Literature Review With a Ground Truth Approach for Diagnosing Huntington's Disease Phenocopy

The enduring enigma of sporadic chorea: A single center case series

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