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A case of spinocerebellar ataxia type 28 with orthostatic tremor
Received date: 2023-01-03
Accepted date: 2023-02-28
Online published: 2023-04-28
Spinocerebellar ataxia (SCA) is a rare autosomal neurodegenerative disease. SCA28 is a rare subtype, caused by heterozygous mutation of the pathogenic gene AFG3L2. The clinical features usually include slowly progressive gait and limb ataxia, dysarthria, hyperreflexia of the lower limbs, gaze-evoked nystagmus, ptosis, ophthalmoplegia, decreased ankle reflex, Parkinsonism, dystonia and cognitive impairment. In this paper, a case of SCA28 with orthostatic tremor is reported. The gene detection showed that there was a missense mutation of c. 2098G>A in the AFG3L2 gene of the patient. The clinical symptoms and pathogenic gene mutations of 79 cases of SCA28 type in the previous relevant literature are summarized to strengthen the understanding and clinical diagnosis of the disease.
Key words： spinocerebellar ataxia; AFG3L2 gene; missense mutation; m-AAA protease
Qunfeng WANG , Shihua LIU . A case of spinocerebellar ataxia type 28 with orthostatic tremor[J]. Journal of Shanghai Jiao Tong University (Medical Science), 2023 , 43(4) : 514 -518 . DOI: 10.3969/j.issn.1674-8115.2023.04.016
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