scholarly journals Age-at-onset in Huntington disease

PLoS Currents ◽  
2011 ◽  
Vol 3 ◽  
pp. RRN1258 ◽  
Author(s):  
Michael Orth ◽  
Carsten Schwenke
Keyword(s):  
Huntington Disease ◽  
Age At Onset

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.

Association between BDNF Val66Met polymorphism and age at onset in Huntington disease

Neurology ◽  
2005 ◽  
Vol 65 (6) ◽  
pp. 964-965 ◽  
Author(s):  
J. Alberch ◽  
M. Lopez ◽  
C. Badenas ◽  
J. L. Carrasco ◽  
M. Mila ◽  
...  
Keyword(s):  
Huntington Disease ◽  
Age At Onset ◽  
Val66met Polymorphism ◽  
Bdnf Val66met Polymorphism

Predictability of Age at Onset in Huntington Disease in the Dutch Population

Medicine ◽  
2002 ◽  
Vol 81 (4) ◽  
pp. 251-259 ◽  
Author(s):  
ANNEKE MAAT-KIEVIT ◽  
MONIQUE LOSEKOOT ◽  
KOOS ZWINDERMAN ◽  
MARIA VEGTER-VAN DER VLIS ◽  
RENÉ BELFROID ◽  
...  
Keyword(s):  
Huntington Disease ◽  
Age At Onset ◽  
Dutch Population

Mitochondrial haplogroup H correlates with ATP levels and age at onset in Huntington disease

2010 ◽  
Vol 88 (4) ◽  
pp. 431-436 ◽  
Author(s):  
Larissa Arning ◽  
Aiden Haghikia ◽  
Elahe Taherzadeh-Fard ◽  
Carsten Saft ◽  
Jürgen Andrich ◽  
...  
Keyword(s):  
Huntington Disease ◽  
Age At Onset ◽  
Mitochondrial Haplogroup ◽  
Atp Levels

scholarly journals Failure to confirm influence of Methyltetrahydrofolate reductase (MTHFR) polymorphisms on age at onset of Huntington disease

2005 ◽  
Vol 4 (1) ◽  
Author(s):  
Wiebke Hansen ◽  
Carsten Saft ◽  
Jürgen Andrich ◽  
Thomas Müller ◽  
Stefan Wieczorek ◽  
...  
Keyword(s):  
Huntington Disease ◽  
Age At Onset ◽  
Mthfr Polymorphisms ◽  
Methyltetrahydrofolate Reductase

NR2A and NR2B receptor gene variations modify age at onset in Huntington disease

Neurogenetics ◽  
2004 ◽  
Vol 6 (1) ◽  
pp. 25-28 ◽  
Author(s):  
Larissa Arning ◽  
Peter H. Kraus ◽  
Sandra Valentin ◽  
Carsten Saft ◽  
J�rgen Andrich ◽  
...  
Keyword(s):  
Huntington Disease ◽  
Receptor Gene ◽  
Age At Onset ◽  
Nr2b Receptor

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

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