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| Family analysis and clinical research of Huntington disease |
| ZENG Qian1 CAO Zhongwei2 SUN Junqing3 |
1.Department of Neurology, Inner Mongolia People′s Hospital, Inner Mongolia Autonomous Region, Hohhot 010017, China;
2.Department of Thyroid Breast Surgery, Inner Mongolia People′s Hospital, Inner Mongolia Autonomous Region, Hohhot 010017, China;
3.Department of Medical Clinic, Inner Mongolia People′s Hospital, Inner Mongolia Autonomous Region, Hohhot 010017, China |
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Abstract Huntington′s disease (HD) is a typical autosomal dominant neurodegenerative disease. The disease is a genetic disease caused by a single gene HTT mutation. In the IT15 gene, cytosine-adenine-guanine (CAG) n repeats of the abnormal expansion of copies is the basis of HD in the family. The disease occurs, when the repeat sequence＞36 times. HD patients have accumulated variant protein and neuronal death pathological features, accompanied by behavioral, cognitive, and mental disorders. This article collects detailed clinical data of HD patients and some family members treated in the Department of Neurology of Inner Mongolia People′s Hospital from 2017 to 2019, discusses the genetic rules and clinical characteristics of HD families, draws a complete family tree, and tests the number of CAG trinucleotide repeats of IT15 gene in patients, using for genetic diagnosis and pre-symptomatic diagnosis of the disease. Three patients were diagnosed in both lines, and the causative CAG repeat copy number was≥40 times. In the analysis of the family, it was found that there was a premature phenomenon of paternal inheritance. The patients with advanced HD have more typical clinical manifestations, but the early symptoms are diverse and atypical, the clinical diagnosis is difficult, the behavior changes, and the imaging examination have important reference value. Genetic diagnosis can confirm the disease.
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