Endophenotypical drift in Huntington's disease : a 5-year follow-up study
© 2021. The Author(s)..
BACKGROUND: Huntington's disease (HD) is clinically characterized by progressing motor, cognitive and psychiatric symptoms presenting as varying phenotypes within these three major symptom domains. The disease is caused by an expanded CAG repeat tract in the huntingtin gene and the pathomechanism leading to these endophenotypes is assumed to be neurodegenerative. In 2012/2013 we recruited 107 HD gene expansion carriers (HDGECs) and examined the frequency of the three cardinal symptoms and in 2017/2018 we followed up 74 HDGECs from the same cohort to describe the symptom trajectories and individual drift between the endophenotypes as well as potential predictors of progression and remission.
RESULTS: We found higher age to reduce the probability of improving on psychiatric symptoms; increasing disease burden score ((CAG-35.5) * age) to increase the risk of developing cognitive impairment; increasing disease burden score and shorter education to increase the risk of motor onset while lower disease burden score and higher Mini Mental State Examination increased the probability of remaining asymptomatic. We found 23.5% (N = 8) to improve from their psychiatric symptoms.
CONCLUSIONS: There is no clear pattern in the development of or drift between endophenotypes. In contrast to motor and cognitive symptoms we find that psychiatric symptoms may resolve and thereby not entirely be caused by neurodegeneration. The probability of improving from psychiatric symptoms is higher in younger age and advocates for a potential importance of early treatment.
| Medienart: |
E-Artikel |
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| Erscheinungsjahr: |
2021 |
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| Erschienen: |
2021 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:16 |
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| Enthalten in: |
Orphanet journal of rare diseases - 16(2021), 1 vom: 03. Aug., Seite 340 |
| Sprache: |
Englisch |
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| Beteiligte Personen: |
Hellem, Marie N N [VerfasserIn] |
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| Links: |
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| Themen: |
Cognitive symptoms |
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| Anmerkungen: |
Date Completed 06.10.2021 Date Revised 03.04.2024 published: Electronic Citation Status MEDLINE |
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| doi: |
10.1186/s13023-021-01967-2 |
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| funding: |
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| Förderinstitution / Projekttitel: |
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| PPN (Katalog-ID): |
NLM328888540 |
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| 245 | 1 | 0 | |a Endophenotypical drift in Huntington's disease |b a 5-year follow-up study |
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| 500 | |a Date Revised 03.04.2024 | ||
| 500 | |a published: Electronic | ||
| 500 | |a Citation Status MEDLINE | ||
| 520 | |a © 2021. The Author(s). | ||
| 520 | |a BACKGROUND: Huntington's disease (HD) is clinically characterized by progressing motor, cognitive and psychiatric symptoms presenting as varying phenotypes within these three major symptom domains. The disease is caused by an expanded CAG repeat tract in the huntingtin gene and the pathomechanism leading to these endophenotypes is assumed to be neurodegenerative. In 2012/2013 we recruited 107 HD gene expansion carriers (HDGECs) and examined the frequency of the three cardinal symptoms and in 2017/2018 we followed up 74 HDGECs from the same cohort to describe the symptom trajectories and individual drift between the endophenotypes as well as potential predictors of progression and remission | ||
| 520 | |a RESULTS: We found higher age to reduce the probability of improving on psychiatric symptoms; increasing disease burden score ((CAG-35.5) * age) to increase the risk of developing cognitive impairment; increasing disease burden score and shorter education to increase the risk of motor onset while lower disease burden score and higher Mini Mental State Examination increased the probability of remaining asymptomatic. We found 23.5% (N = 8) to improve from their psychiatric symptoms | ||
| 520 | |a CONCLUSIONS: There is no clear pattern in the development of or drift between endophenotypes. In contrast to motor and cognitive symptoms we find that psychiatric symptoms may resolve and thereby not entirely be caused by neurodegeneration. The probability of improving from psychiatric symptoms is higher in younger age and advocates for a potential importance of early treatment | ||
| 650 | 4 | |a Journal Article | |
| 650 | 4 | |a Research Support, Non-U.S. Gov't | |
| 650 | 4 | |a Cognitive symptoms | |
| 650 | 4 | |a Endophenotype | |
| 650 | 4 | |a Huntington’s disease | |
| 650 | 4 | |a Psychiatric symptoms | |
| 700 | 1 | |a Hendel, Rebecca K |e verfasserin |4 aut | |
| 700 | 1 | |a Vinther-Jensen, Tua |e verfasserin |4 aut | |
| 700 | 1 | |a Larsen, Ida U |e verfasserin |4 aut | |
| 700 | 1 | |a Nielsen, Troels T |e verfasserin |4 aut | |
| 700 | 1 | |a Hjermind, Lena E |e verfasserin |4 aut | |
| 700 | 1 | |a Budtz-Jørgensen, Esben |e verfasserin |4 aut | |
| 700 | 1 | |a Vogel, Asmus |e verfasserin |4 aut | |
| 700 | 1 | |a Nielsen, Jørgen E |e verfasserin |4 aut | |
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