Huntington's Disease and Striatal Signaling
Huntington’s Disease (HD) is the most frequent neurodegenerative disease caused by an expansion of polyglutamines (CAG). The main clinical manifestations of HD are chorea, cognitive impairment and psychiatric disorders. The transmission of HD is autosomal dominant with a complete penetrance. HD has...
| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2011-08-01
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| Series: | Frontiers in Neuroanatomy |
| Subjects: | |
| Online Access: | http://journal.frontiersin.org/Journal/10.3389/fnana.2011.00055/full |
| _version_ | 1819061078653403136 |
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| author | Emmanuel eRoze Emmanuel eRoze Emma eCahill Elodie eMartin Cecilia eBonnet Peter eVanhoutte Sandrine eBetuing Jocelyne eCaboche |
| author_facet | Emmanuel eRoze Emmanuel eRoze Emma eCahill Elodie eMartin Cecilia eBonnet Peter eVanhoutte Sandrine eBetuing Jocelyne eCaboche |
| author_sort | Emmanuel eRoze |
| collection | DOAJ |
| description | Huntington’s Disease (HD) is the most frequent neurodegenerative disease caused by an expansion of polyglutamines (CAG). The main clinical manifestations of HD are chorea, cognitive impairment and psychiatric disorders. The transmission of HD is autosomal dominant with a complete penetrance. HD has a single genetic cause, a well-defined neuropathology, and informative pre-manifest genetic testing of the disease is available. Striatal atrophy begins as early as 15 years before disease onset and continues throughout the period of manifest illness. Therefore, patients could theoretically benefit from therapy at early stages of the disease. One important characteristic of HD is the striatal vulnerability to neurodegeneration, despite similar expression of the protein in other brain areas. Aggregation of the mutated Huntingtin (HTT), impaired axonal transport, excitotoxicity, transcriptional dysregulation as well as mitochondrial dysfunction and energy deficits, are all part of the cellular events that underlie neuronal dysfunction and striatal death. Among these non-exclusive mechanisms, an alteration of striatal signaling is thought to orchestrate the downstream events involved in the cascade of striatal dysfunction. |
| first_indexed | 2024-12-21T14:37:10Z |
| format | Article |
| id | doaj.art-30d95960222d42d6992133ad560b44f4 |
| institution | Directory Open Access Journal |
| issn | 1662-5129 |
| language | English |
| last_indexed | 2024-12-21T14:37:10Z |
| publishDate | 2011-08-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Neuroanatomy |
| spelling | doaj.art-30d95960222d42d6992133ad560b44f42022-12-21T19:00:18ZengFrontiers Media S.A.Frontiers in Neuroanatomy1662-51292011-08-01510.3389/fnana.2011.0005511438Huntington's Disease and Striatal SignalingEmmanuel eRoze0Emmanuel eRoze1Emma eCahill2Elodie eMartin3Cecilia eBonnet4Peter eVanhoutte5Sandrine eBetuing6Jocelyne eCaboche7Universite Pierre et Marie Curie-PAris 6.Hopital Pitié-Salpétrière, AP-HP, Paris, FranceUniversite Pierre et Marie Curie-PAris 6.Universite Pierre et Marie Curie-PAris 6.General Teaching HospitalUniversite Pierre et Marie Curie-PAris 6.Universite Pierre et Marie Curie-PAris 6.Universite Pierre et Marie Curie-PAris 6.Huntington’s Disease (HD) is the most frequent neurodegenerative disease caused by an expansion of polyglutamines (CAG). The main clinical manifestations of HD are chorea, cognitive impairment and psychiatric disorders. The transmission of HD is autosomal dominant with a complete penetrance. HD has a single genetic cause, a well-defined neuropathology, and informative pre-manifest genetic testing of the disease is available. Striatal atrophy begins as early as 15 years before disease onset and continues throughout the period of manifest illness. Therefore, patients could theoretically benefit from therapy at early stages of the disease. One important characteristic of HD is the striatal vulnerability to neurodegeneration, despite similar expression of the protein in other brain areas. Aggregation of the mutated Huntingtin (HTT), impaired axonal transport, excitotoxicity, transcriptional dysregulation as well as mitochondrial dysfunction and energy deficits, are all part of the cellular events that underlie neuronal dysfunction and striatal death. Among these non-exclusive mechanisms, an alteration of striatal signaling is thought to orchestrate the downstream events involved in the cascade of striatal dysfunction.http://journal.frontiersin.org/Journal/10.3389/fnana.2011.00055/fullAxonal Transportneurodegenerative diseaseexcitotoxicityCAG repeatenergy deficitstranscriptional dysregulation |
| spellingShingle | Emmanuel eRoze Emmanuel eRoze Emma eCahill Elodie eMartin Cecilia eBonnet Peter eVanhoutte Sandrine eBetuing Jocelyne eCaboche Huntington's Disease and Striatal Signaling Frontiers in Neuroanatomy Axonal Transport neurodegenerative disease excitotoxicity CAG repeat energy deficits transcriptional dysregulation |
| title | Huntington's Disease and Striatal Signaling |
| title_full | Huntington's Disease and Striatal Signaling |
| title_fullStr | Huntington's Disease and Striatal Signaling |
| title_full_unstemmed | Huntington's Disease and Striatal Signaling |
| title_short | Huntington's Disease and Striatal Signaling |
| title_sort | huntington s disease and striatal signaling |
| topic | Axonal Transport neurodegenerative disease excitotoxicity CAG repeat energy deficits transcriptional dysregulation |
| url | http://journal.frontiersin.org/Journal/10.3389/fnana.2011.00055/full |
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