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Published on: November 21, 2013
[Differential diagnosis of chorea]
Takayoshi Shimohata1, Masatoyo Nishizawa
1Department of Neurology, Brain Research Institute, Niigata University, 1-757 Asahi-machi-dori, Chuo-ku, Niigata 951-8585, Japan.
Insights
Chorea, an involuntary movement disorder, has diverse causes beyond Huntington disease (HD). Genetic heterogeneity is evident, with conditions like benign hereditary chorea (BHC) presenting similar symptoms.
Area of Science:
- Neuroscience
- Genetics
- Movement Disorders
Background:
- Chorea is characterized by involuntary, twitch-like movements and is associated with various diseases, notably Huntington disease (HD).
- Genetic analysis reveals that not all autosomal-dominant chorea cases are linked to the typical CAG-repeat expansion in the IT-15 gene, indicating genetic heterogeneity.
- Identified conditions include dentatorubral pallidoluysian atrophy (DRPLA), spinocerebellar ataxia type 17 (SCA17), Huntington disease-like 1 (HDL1), Huntington disease-like 2 (HDL2), and benign hereditary chorea (BHC).
Purpose of the Study:
- To review the clinical features of disorders associated with chorea.
- To highlight the genetic heterogeneity of autosomal-dominant chorea.
- To introduce benign hereditary chorea type 2 (BHC2) identified in Japanese families.
Main Methods:
- Literature review of clinical features of chorea-associated disorders.
- Genetic analysis of Japanese families with adult-onset benign chorea.
- Linkage analysis to chromosome 8q22.2-q23.3 for BHC2.
Main Results:
- Autosomal-dominant chorea exhibits genetic heterogeneity, with several disorders presenting similarly to Huntington disease.
- Two Japanese families with adult-onset benign chorea were identified, linked to chromosome 8q22.2-q23.3, designated as benign hereditary chorea type 2 (BHC2).
- Chorea can manifest from a broad spectrum of hereditary and sporadic conditions, including metabolic, infectious, inflammatory, vascular, and drug-induced causes.
Conclusions:
- Chorea is a complex symptom with diverse underlying etiologies, extending beyond Huntington disease.
- Genetic factors play a significant role in the pathogenesis of various choreiform disorders.
- Understanding the clinical and genetic spectrum of chorea is crucial for accurate diagnosis and management.
Abstract:
Chorea is an involuntary movement that appears along with many diseases, it is commonly described as a frequent, brief, sudden, and twitch-like movement that is manifested in various parts of the body in a chaotic pattern. Huntington disease (HD) is a representative neurodegenerative disorder that presents with chorea. Although HD is caused by a CAG-repeat expansion in the IT-15 gene which encodes huntingtin, a small group of patients showing the symptoms and signs of HD do not have the causative CAG-repeat expansion, thereby showing that autosomal-dominant chorea is genetically heterogeneous. Recent studies have demonstrated that such disorders include dentatorubral pallidoluysian atrophy (DRPLA), spinocerebellar ataxia type 17 (SCA17), Huntington disease like 1 (HDL1), Huntington disease like 2 (HDL2), and benign hereditary chorea (BHC). We recently identified 2 Japanese families with adult-onset benign chorea that was inherited in an autosomal-dominant pattern that was linked to chromosome 8q22.2-q23.3, and we named this disease "benign hereditary chorea type 2 (BHC2)". Chorea can also be caused by a wide range of other hereditary diseases and sporadic disease such as metabolic, infectious, inflammatory, vascular, and drug-induced syndromes. In this article, we have reviewed the clinical features of the disorders associated with chorea.
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