Huntington Disease and Other Genetic Causes of Choreas

2016 ◽  
Author(s):  
Ainhi Ha ◽  
Débora Maia ◽  
Victor S C Fung ◽  
Francisco Cardoso
Keyword(s):  
Movement Disorders ◽  
Huntington Disease ◽  
Neurodegenerative Disorder ◽  
Age At Onset ◽  
Body Distribution ◽  
Behavioral Abnormalities ◽  
Expected Outcome ◽  
Common Etiology ◽  
Hereditary Chorea ◽  
Benign Hereditary Chorea

The aim of this review is to provide an overview of Huntington disease (HD) and other genetic choreas with an emphasis on clinical presentation, diagnosis, treatment, and expected outcome. Chorea is a syndrome characterized by brief, abrupt, involuntary movements resulting from a continuous flow of random muscle contractions. The first step in approaching a subject with chorea is to define the underlying etiology because the natural history and management vary accordingly. Age at onset, body distribution, other neurologic features, and family history are important in establishing the cause of chorea. HD is the most common etiology of genetic choreas worldwide. It is a progressive neurodegenerative disorder transmitted as an autosomal dominant trait characterized by a combination of movement disorders, cognitive decline, and behavioral abnormalities that causes progressive disability and death. When an HD phenotype test is negative for this condition, other causes, such as neuroacanthocytosis; spinocerebellar ataxia 17; Huntington disease–like syndrome 2, 3, or 4; benign hereditary chorea; and dentatorubral-pallidoluysian atrophy, as well as others, should be investigated.  Key words: Huntington, movement disorders, genetic choreas, neurodegenerative disorder

Huntington Disease and Other Genetic Causes of Choreas

2016 ◽  
Author(s):  
Ainhi Ha ◽  
Débora Maia ◽  
Victor S C Fung ◽  
Francisco Cardoso
Keyword(s):  
Movement Disorders ◽  
Huntington Disease ◽  
Neurodegenerative Disorder ◽  
Age At Onset ◽  
Body Distribution ◽  
Behavioral Abnormalities ◽  
Expected Outcome ◽  
Common Etiology ◽  
Hereditary Chorea ◽  
Benign Hereditary Chorea

The aim of this review is to provide an overview of Huntington disease (HD) and other genetic choreas with an emphasis on clinical presentation, diagnosis, treatment, and expected outcome. Chorea is a syndrome characterized by brief, abrupt, involuntary movements resulting from a continuous flow of random muscle contractions. The first step in approaching a subject with chorea is to define the underlying etiology because the natural history and management vary accordingly. Age at onset, body distribution, other neurologic features, and family history are important in establishing the cause of chorea. HD is the most common etiology of genetic choreas worldwide. It is a progressive neurodegenerative disorder transmitted as an autosomal dominant trait characterized by a combination of movement disorders, cognitive decline, and behavioral abnormalities that causes progressive disability and death. When an HD phenotype test is negative for this condition, other causes, such as neuroacanthocytosis; spinocerebellar ataxia 17; Huntington disease–like syndrome 2, 3, or 4; benign hereditary chorea; and dentatorubral-pallidoluysian atrophy, as well as others, should be investigated.  This review contains 2 figures, 1 table, and 108 references. Key words: Huntington, movement disorders, genetic choreas, neurodegenerative disorder

Huntington Disease and Other Genetic Causes of Choreas

2016 ◽  
Author(s):  
Ainhi Ha ◽  
Débora Maia ◽  
Victor S C Fung ◽  
Francisco Cardoso
Keyword(s):  
Movement Disorders ◽  
Huntington Disease ◽  
Neurodegenerative Disorder ◽  
Age At Onset ◽  
Body Distribution ◽  
Behavioral Abnormalities ◽  
Expected Outcome ◽  
Common Etiology ◽  
Hereditary Chorea ◽  
Benign Hereditary Chorea

The aim of this review is to provide an overview of Huntington disease (HD) and other genetic choreas with an emphasis on clinical presentation, diagnosis, treatment, and expected outcome. Chorea is a syndrome characterized by brief, abrupt, involuntary movements resulting from a continuous flow of random muscle contractions. The first step in approaching a subject with chorea is to define the underlying etiology because the natural history and management vary accordingly. Age at onset, body distribution, other neurologic features, and family history are important in establishing the cause of chorea. HD is the most common etiology of genetic choreas worldwide. It is a progressive neurodegenerative disorder transmitted as an autosomal dominant trait characterized by a combination of movement disorders, cognitive decline, and behavioral abnormalities that causes progressive disability and death. When an HD phenotype test is negative for this condition, other causes, such as neuroacanthocytosis; spinocerebellar ataxia 17; Huntington disease–like syndrome 2, 3, or 4; benign hereditary chorea; and dentatorubral-pallidoluysian atrophy, as well as others, should be investigated.  Key words: Huntington, movement disorders, genetic choreas, neurodegenerative disorder

scholarly journals Modulation at Age of Onset in Tunisian Huntington Disease Patients: Implication of New Modifier Genes

2014 ◽  
Vol 2014 ◽  
pp. 1-5 ◽  
Author(s):  
Dorra Hmida-Ben Brahim ◽  
Marwa Chourabi ◽  
Sana Ben Amor ◽  
Imed Harrabi ◽  
Saoussen Trabelsi ◽  
...  
Keyword(s):  
Huntington Disease ◽  
Neurodegenerative Disorder ◽  
Age Of Onset ◽  
Age At Onset ◽  
Specific Effect ◽  
Modifier Genes ◽  
Cag Repeats ◽  
Causative Mutation ◽  
Cag Expansion ◽  
Tunisian Patients

Huntington’s disease (HD) is an autosomal dominant neurodegenerative disorder. The causative mutation is an expansion of more than 36 CAG repeats in the first exon of IT15 gene. Many studies have shown that the IT15 interacts with several modifier genes to regulate the age at onset (AO) of HD. Our study aims to investigate the implication of CAG expansion and 9 modifiers in the age at onset variance of 15 HD Tunisian patients and to establish the correlation between these modifiers genes and the AO of this disease. Despite the small number of studied patients, this report consists of the first North African study in Huntington disease patients. Our results approve a specific effect of modifiers genes in each population.

scholarly journals Dystonia updates: definition, nomenclature, clinical classification, and etiology

2021 ◽  
Author(s):  
Karen Grütz ◽  
Christine Klein
Keyword(s):  
Movement Disorders ◽  
Temporal Pattern ◽  
Clinical Presentation ◽  
Age At Onset ◽  
Pathological Findings ◽  
Clinical Classification ◽  
Patient Counseling ◽  
Inheritance Patterns ◽  
The Past ◽  
Body Distribution

AbstractA plethora of heterogeneous movement disorders is grouped under the umbrella term dystonia. The clinical presentation ranges from isolated dystonia to multi-systemic disorders where dystonia is only a co-occurring sign. In the past, definitions, nomenclature, and classifications have been repeatedly refined, adapted, and extended to reflect novel findings and increasing knowledge about the clinical, etiologic, and scientific background of dystonia. Currently, dystonia is suggested to be classified according to two axes. The first axis offers precise categories for the clinical presentation grouped into age at onset, body distribution, temporal pattern and associated features. The second, etiologic, axis discriminates pathological findings, as well as inheritance patterns, mode of acquisition, or unknown causality. Furthermore, the recent recommendations regarding terminology and nomenclature of inherited forms of dystonia and related syndromes are illustrated in this article. Harmonized, specific, and internationally widely used classifications provide the basis for future systematic dystonia research, as well as for more personalized patient counseling and treatment approaches.

PNKP deficiency mimicking a benign hereditary chorea: The misleading presentation of a neurodegenerative disorder

2019 ◽  
Vol 64 ◽  
pp. 342-345 ◽  
Author(s):  
C. Caputi ◽  
M. Tolve ◽  
S. Galosi ◽  
M. Inghilleri ◽  
C. Carducci ◽  
...  
Keyword(s):  
Neurodegenerative Disorder ◽  
Hereditary Chorea ◽  
Benign Hereditary Chorea

scholarly journals Molecular diagnosis of Huntington disease in Brazilian patients

2000 ◽  
Vol 58 (1) ◽  
pp. 11-17 ◽  
Author(s):  
TEREZA C. LIMA E SILVA ◽  
HELIANE GUERRA SERRA ◽  
CARMEN S. BERTUZZO ◽  
ISCIA LOPES-CENDES
Keyword(s):  
Molecular Diagnosis ◽  
Huntington Disease ◽  
Neurodegenerative Disorder ◽  
Age At Onset ◽  
Disease Onset ◽  
Significant Negative Correlation ◽  
Cag Repeat ◽  
Cag Repeats ◽  
Unrelated Control ◽  
Intermediate Size

Huntington disease (HD) is a progressive neurodegenerative disorder with autosomal dominant inheritance, characterized by choreiform movements and cognitive impairment. Onset of symptoms is around 40 years of age and progression to death occurs in approximately 10 to 15 years from the time of disease onset. HD is associated with an unstable CAG repeat expansion at the 5' and of the IT15 gene. We have genotyped the CAG repeat in the IT15 gene in 44 Brazilian individuals (42 patients and 2 unaffected family members) belonging to 34 unrelated families thought to segregate HD. We found one expanded CAG allele in 32 individuals (76%) belonging to 25 unrelated families. In these HD patients, expanded alleles varied from 43 to 73 CAG units and normal alleles varied from 18 to 26 CAGs. A significant negative correlation between age at onset of symptoms and size of the expanded CAG allele was found (r=0.6; p=0.0001); however, the size of the expanded CAG repeat could explain only about 40% of the variability in age at onset (r2=0.4). In addition, we genotyped 25 unrelated control individuals (total of 50 alleles) and found normal CAG repeats varying from 16 to 33 units. The percentage of heterozigocity of the normal allele in the control population was 88%. In conclusion, our results showed that not all patients with the "HD" phenotype carried the expansion at the IT15 gene. Furthermore, molecular diagnosis was possible in all individuals, since no alleles of intermediate size were found. Therefore, molecular confirmation of the clinical diagnosis in HD should be sought in all suspected patients, making it possible for adequate genetic counseling.

Benign hereditary chorea in patients with TITF-1 mutation. response to levodopa

2008 ◽  
Vol 39 (01) ◽  
Author(s):  
A Stienen ◽  
M Häusler ◽  
A Stienen ◽  
M Häusler
Keyword(s):  
Hereditary Chorea ◽  
Benign Hereditary Chorea

scholarly journals Gene4PD: A Comprehensive Genetic Database of Parkinson’s Disease

2021 ◽  
Vol 15 ◽  
Author(s):  
Bin Li ◽  
Guihu Zhao ◽  
Qiao Zhou ◽  
Yali Xie ◽  
Zheng Wang ◽  
...  
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Neurodegenerative Disorder ◽  
Late Onset ◽  
Association Studies ◽  
Age At Onset ◽  
Genetic Data ◽  
Genome Wide Association Studies ◽  
Onset Age ◽  
Loss Of Function

Parkinson’s disease (PD) is a complex neurodegenerative disorder with a strong genetic component. A growing number of variants and genes have been reported to be associated with PD; however, there is no database that integrate different type of genetic data, and support analyzing of PD-associated genes (PAGs). By systematic review and curation of multiple lines of public studies, we integrate multiple layers of genetic data (rare variants and copy-number variants identified from patients with PD, associated variants identified from genome-wide association studies, differentially expressed genes, and differential DNA methylation genes) and age at onset in PD. We integrated five layers of genetic data (8302 terms) with different levels of evidences from more than 3,000 studies and prioritized 124 PAGs with strong or suggestive evidences. These PAGs were identified to be significantly interacted with each other and formed an interconnected functional network enriched in several functional pathways involved in PD, suggesting these genes may contribute to the pathogenesis of PD. Furthermore, we identified 10 genes were associated with a juvenile-onset (age ≤ 30 years), 11 genes were associated with an early-onset (age of 30–50 years), whereas another 10 genes were associated with a late-onset (age > 50 years). Notably, the AAOs of patients with loss of function variants in five genes were significantly lower than that of patients with deleterious missense variants, while patients with VPS13C (P = 0.01) was opposite. Finally, we developed an online database named Gene4PD (http://genemed.tech/gene4pd) which integrated published genetic data in PD, the PAGs, and 63 popular genomic data sources, as well as an online pipeline for prioritize risk variants in PD. In conclusion, Gene4PD provides researchers and clinicians comprehensive genetic knowledge and analytic platform for PD, and would also improve the understanding of pathogenesis in PD.

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