1. 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
- Author
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M. A. Nikitina, E. Yu. Bragina, M. S. Nazarenko, N. G. Zhukova, D. E. Gomboeva, K. F. Nurzhanova, N. V. Tsentr, and V. M. Alifirova
- Subjects
congenital, hereditary, and neonatal diseases and abnormalities ,Parkinson's disease ,Huntingtin ,parkinson’s disease ,expansion of cag-repeats ,motor disorders ,Camptocormia ,Huntington's disease ,huntington’s disease ,mental disorders ,differential diagnosis ,medicine ,neurodegenerative diseases ,genetics ,htt ,parkinsonism ,Dystonia ,business.industry ,Parkinsonism ,medicine.disease ,nervous system diseases ,Immunology ,Molecular Medicine ,Medicine ,Age of onset ,Trinucleotide repeat expansion ,business - Abstract
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.
- Published
- 2021