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
| Autor: | M. A. Nikitina, E. Yu. Bragina, M. S. Nazarenko, N. G. Zhukova, D. E. Gomboeva, K. F. Nurzhanova, N. V. Tsentr, V. M. Alifirova |
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| Jazyk: | English<br />Russian |
| Rok vydání: | 2021 |
| Předmět: | |
| Zdroj: | Бюллетень сибирской медицины, Vol 19, Iss 4, Pp 235-240 (2021) |
| Druh dokumentu: | article |
| ISSN: | 1682-0363 1819-3684 |
| DOI: | 10.20538/1682-0363-2020-4-235-240 |
| Popis: | 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. |
| Databáze: | Directory of Open Access Journals |
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