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Case report: Cerebellar sparing in juvenile Huntington's disease
Juvenile Huntington's disease is an early-onset variant of Huntington's disease, generally associated with large CAG repeats and distinct clinical symptoms. The role of the cerebellum in Huntington's disease has been reevaluated, based on the presence of ataxia and findings on the imp...
Autores principales: | , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9874289/ https://www.ncbi.nlm.nih.gov/pubmed/36712421 http://dx.doi.org/10.3389/fneur.2022.1089193 |
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author | Santos-Lobato, Bruno Lopes Rocha, Jéssica Santos de Souza Rocha, Luciano Chaves |
author_facet | Santos-Lobato, Bruno Lopes Rocha, Jéssica Santos de Souza Rocha, Luciano Chaves |
author_sort | Santos-Lobato, Bruno Lopes |
collection | PubMed |
description | Juvenile Huntington's disease is an early-onset variant of Huntington's disease, generally associated with large CAG repeats and distinct clinical symptoms. The role of the cerebellum in Huntington's disease has been reevaluated, based on the presence of ataxia and findings on the impact of the disease on cerebellar volume. Recent studies showed a hyperconnectivity between the cerebellum and the basal ganglia in premanifest children with expanded CAG repeats, as well as an enlargement of the cerebellum in adolescence-onset Huntington's disease. We report a 21-year-old Brazilian female with Huntington's disease (age at disease onset 16 years) with Parkinsonism and no ataxic features. There was no reduction of cerebellar volume over 3 years of follow-up, despite the brain atrophy in other regions and clinical worsening. Furthermore, the cerebellar volume of the patient was similar to age- and sex-matched controls. These findings support the existence of compensatory mechanisms involving the cerebellum in individuals with a moderate-to-high number of CAG repeats (50–100 copies) in the early stages of life. |
format | Online Article Text |
id | pubmed-9874289 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | Frontiers Media S.A. |
record_format | MEDLINE/PubMed |
spelling | pubmed-98742892023-01-26 Case report: Cerebellar sparing in juvenile Huntington's disease Santos-Lobato, Bruno Lopes Rocha, Jéssica Santos de Souza Rocha, Luciano Chaves Front Neurol Neurology Juvenile Huntington's disease is an early-onset variant of Huntington's disease, generally associated with large CAG repeats and distinct clinical symptoms. The role of the cerebellum in Huntington's disease has been reevaluated, based on the presence of ataxia and findings on the impact of the disease on cerebellar volume. Recent studies showed a hyperconnectivity between the cerebellum and the basal ganglia in premanifest children with expanded CAG repeats, as well as an enlargement of the cerebellum in adolescence-onset Huntington's disease. We report a 21-year-old Brazilian female with Huntington's disease (age at disease onset 16 years) with Parkinsonism and no ataxic features. There was no reduction of cerebellar volume over 3 years of follow-up, despite the brain atrophy in other regions and clinical worsening. Furthermore, the cerebellar volume of the patient was similar to age- and sex-matched controls. These findings support the existence of compensatory mechanisms involving the cerebellum in individuals with a moderate-to-high number of CAG repeats (50–100 copies) in the early stages of life. Frontiers Media S.A. 2023-01-11 /pmc/articles/PMC9874289/ /pubmed/36712421 http://dx.doi.org/10.3389/fneur.2022.1089193 Text en Copyright © 2023 Santos-Lobato, Rocha and Rocha. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms. |
spellingShingle | Neurology Santos-Lobato, Bruno Lopes Rocha, Jéssica Santos de Souza Rocha, Luciano Chaves Case report: Cerebellar sparing in juvenile Huntington's disease |
title | Case report: Cerebellar sparing in juvenile Huntington's disease |
title_full | Case report: Cerebellar sparing in juvenile Huntington's disease |
title_fullStr | Case report: Cerebellar sparing in juvenile Huntington's disease |
title_full_unstemmed | Case report: Cerebellar sparing in juvenile Huntington's disease |
title_short | Case report: Cerebellar sparing in juvenile Huntington's disease |
title_sort | case report: cerebellar sparing in juvenile huntington's disease |
topic | Neurology |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9874289/ https://www.ncbi.nlm.nih.gov/pubmed/36712421 http://dx.doi.org/10.3389/fneur.2022.1089193 |
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