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
M. A. Nikitina,
E. Yu. Bragina,
M. S. Nazarenko,
N. G. Zhukova,
D. E. Gomboeva,
K. F. Nurzhanova,
N. V. Tsentr,
V. M. Alifirova https://doi.org/10.20538/1682-0363-2020-4-235-240
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.
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.
Keywords
parkinsonism,
Parkinson’s disease,
motor disorders,
Huntington’s disease,
differential diagnosis,
expansion of CAG-repeats,
HTT,
neurodegenerative diseases,
genetics
Supporting agencies: The study was performed with the support of Council for Grants of the President of the Russian Federation (“Clinical and epidemiological features of neurodegenerative diseases of the Tomsk Region”, grant No. MK-813.2019.7).
About the Authors
M. A. Nikitina
Siberian State Medical University
Russian Federation
2, Moscow trakt, 634050, Tomsk, Russian Federation
Russian Federation
2, Moscow trakt, 634050, Tomsk, Russian Federation
E. Yu. Bragina
Research Institute of Medical Genetics, Tomsk National Research Medical Center, Russian Academy of Sciences
Russian Federation
10, Nab. Ushaiki Str., Tomsk, 634050, Russian Federation
Russian Federation
10, Nab. Ushaiki Str., Tomsk, 634050, Russian Federation
M. S. Nazarenko
Siberian State Medical University; Research Institute of Medical Genetics, Tomsk National Research Medical Center, Russian Academy of Sciences
Russian Federation
Russian Federation
2, Moscow trakt, 634050, Tomsk, Russian Federation
10, Nab. Ushaiki Str., Tomsk, 634050, Russian Federation
N. G. Zhukova
Siberian State Medical University
Russian Federation
2, Moscow trakt, 634050, Tomsk, Russian Federation
Russian Federation
2, Moscow trakt, 634050, Tomsk, Russian Federation
D. E. Gomboeva
Research Institute of Medical Genetics, Tomsk National Research Medical Center, Russian Academy of Sciences
Russian Federation
10, Nab. Ushaiki Str., Tomsk, 634050, Russian Federation
Russian Federation
10, Nab. Ushaiki Str., Tomsk, 634050, Russian Federation
K. F. Nurzhanova
Siberian State Medical University
Russian Federation
2, Moscow trakt, 634050, Tomsk, Russian Federation
Russian Federation
2, Moscow trakt, 634050, Tomsk, Russian Federation
N. V. Tsentr
Siberian State Medical University
Russian Federation
2, Moscow trakt, 634050, Tomsk, Russian Federation
Russian Federation
2, Moscow trakt, 634050, Tomsk, Russian Federation
V. M. Alifirova
Siberian State Medical University
Russian Federation
2, Moscow trakt, 634050, Tomsk, Russian Federation
Russian Federation
2, Moscow trakt, 634050, Tomsk, Russian Federation
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Review
For citations:
Nikitina M.A., Bragina E.Yu., Nazarenko M.S., Zhukova N.G., Gomboeva D.E., Nurzhanova K.F., Tsentr N.V., Alifirova V.M. 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. Bulletin of Siberian Medicine. 2020;19(4):235-240. https://doi.org/10.20538/1682-0363-2020-4-235-240
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