Atypical course of Parkinson’s disease with clinical manifestations of Huntington’s disease in a patient with an allele of 27 CAG repeats in the HTT gene
Huntington’s disease (HD) is an autosomal dominant progressive neurodegenerative disease. Its molecular cause is a cytosine-adenine-guanine (CAG) trinucleotide repeat dynamic expansion in the huntingtin (HTT) gene. Alleles with 36–39 CAG-repeats are incompletely penetrant, as individuals might devel...
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| Format: | Article |
| Language: | English |
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Siberian State Medical University (Tomsk)
2021-01-01
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| Series: | Бюллетень сибирской медицины |
| Subjects: | |
| Online Access: | https://bulletin.ssmu.ru/jour/article/view/4173 |
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| author | M. A. Nikitina E. Yu. Bragina M. S. Nazarenko N. G. Zhukova D. E. Gomboeva K. F. Nurzhanova N. V. Tsentr V. M. Alifirova |
| author_facet | M. A. Nikitina E. Yu. Bragina M. S. Nazarenko N. G. Zhukova D. E. Gomboeva K. F. Nurzhanova N. V. Tsentr V. M. Alifirova |
| author_sort | M. A. Nikitina |
| collection | DOAJ |
| description | Huntington’s disease (HD) is an autosomal dominant progressive neurodegenerative disease. Its molecular cause is a cytosine-adenine-guanine (CAG) trinucleotide repeat dynamic expansion in the huntingtin (HTT) gene. Alleles with 36–39 CAG-repeats are incompletely penetrant, as individuals might develop symptoms but typically with a later age of onset. When repeats are equal or greater than 40, the symptoms of the disease occur. It is considered that CAG-repeats in the “intermediate” alleles (27–35 repeats) also cause the symptoms of the HD.We present here the case of a patient who has clinical phenotype and family history of Parkinson’s disease (PD), but 27 CAG-repeats. The feature of this patient is early development of non-motor manifestations such as cognitive impairment, psychotic disorders, early dystonia in a hand, camptocormia and poor response to levodopa. It is believed that the intermediate allele of HTT gene might modify the clinical phenotype of PD in this patient. |
| first_indexed | 2024-04-10T01:05:48Z |
| format | Article |
| id | doaj.art-e893760408d04c12a8654aceb7524b6c |
| institution | Directory Open Access Journal |
| issn | 1682-0363 1819-3684 |
| language | English |
| last_indexed | 2024-04-10T01:05:48Z |
| publishDate | 2021-01-01 |
| publisher | Siberian State Medical University (Tomsk) |
| record_format | Article |
| series | Бюллетень сибирской медицины |
| spelling | doaj.art-e893760408d04c12a8654aceb7524b6c2023-03-13T09:58:26ZengSiberian State Medical University (Tomsk)Бюллетень сибирской медицины1682-03631819-36842021-01-0119423524010.20538/1682-0363-2020-4-235-2402744Atypical course of Parkinson’s disease with clinical manifestations of Huntington’s disease in a patient with an allele of 27 CAG repeats in the HTT geneM. A. Nikitina0E. Yu. Bragina1M. S. Nazarenko2N. G. Zhukova3D. E. Gomboeva4K. F. Nurzhanova5N. V. Tsentr6V. M. Alifirova7Сибирский государственный медицинский университет (СибГМУ)Научно-исследовательский институт (НИИ) медицинской генетики, Томский национальный исследовательский медицинский центр (НИМЦ) Российской академии наукНаучно-исследовательский институт (НИИ) медицинской генетики, Томский национальный исследовательский медицинский центр (НИМЦ) Российской академии наукСибирский государственный медицинский университет (СибГМУ); Научно-исследовательский институт (НИИ) медицинской генетики, Томский национальный исследовательский медицинский центр (НИМЦ) Российской академии наукСибирский государственный медицинский университет (СибГМУ)Сибирский государственный медицинский университет (СибГМУ)Сибирский государственный медицинский университет (СибГМУ)Сибирский государственный медицинский университет (СибГМУ)Huntington’s disease (HD) is an autosomal dominant progressive neurodegenerative disease. Its molecular cause is a cytosine-adenine-guanine (CAG) trinucleotide repeat dynamic expansion in the huntingtin (HTT) gene. Alleles with 36–39 CAG-repeats are incompletely penetrant, as individuals might develop symptoms but typically with a later age of onset. When repeats are equal or greater than 40, the symptoms of the disease occur. It is considered that CAG-repeats in the “intermediate” alleles (27–35 repeats) also cause the symptoms of the HD.We present here the case of a patient who has clinical phenotype and family history of Parkinson’s disease (PD), but 27 CAG-repeats. The feature of this patient is early development of non-motor manifestations such as cognitive impairment, psychotic disorders, early dystonia in a hand, camptocormia and poor response to levodopa. It is believed that the intermediate allele of HTT gene might modify the clinical phenotype of PD in this patient.https://bulletin.ssmu.ru/jour/article/view/4173паркинсонизмболезнь паркинсонадвигательные расстройстваболезнь гентингтонаэкспансия cag-повторовhttнейродегенеративные заболеваниягенетика |
| spellingShingle | M. A. Nikitina E. Yu. Bragina M. S. Nazarenko N. G. Zhukova D. E. Gomboeva K. F. Nurzhanova N. V. Tsentr V. M. Alifirova Atypical course of Parkinson’s disease with clinical manifestations of Huntington’s disease in a patient with an allele of 27 CAG repeats in the HTT gene Бюллетень сибирской медицины паркинсонизм болезнь паркинсона двигательные расстройства болезнь гентингтона экспансия cag-повторов htt нейродегенеративные заболевания генетика |
| title | Atypical course of Parkinson’s disease with clinical manifestations of Huntington’s disease in a patient with an allele of 27 CAG repeats in the HTT gene |
| title_full | Atypical course of Parkinson’s disease with clinical manifestations of Huntington’s disease in a patient with an allele of 27 CAG repeats in the HTT gene |
| title_fullStr | Atypical course of Parkinson’s disease with clinical manifestations of Huntington’s disease in a patient with an allele of 27 CAG repeats in the HTT gene |
| title_full_unstemmed | Atypical course of Parkinson’s disease with clinical manifestations of Huntington’s disease in a patient with an allele of 27 CAG repeats in the HTT gene |
| title_short | Atypical course of Parkinson’s disease with clinical manifestations of Huntington’s disease in a patient with an allele of 27 CAG repeats in the HTT gene |
| title_sort | atypical course of parkinson s disease with clinical manifestations of huntington s disease in a patient with an allele of 27 cag repeats in the htt gene |
| topic | паркинсонизм болезнь паркинсона двигательные расстройства болезнь гентингтона экспансия cag-повторов htt нейродегенеративные заболевания генетика |
| url | https://bulletin.ssmu.ru/jour/article/view/4173 |
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