Spinocerebellar ataxia type 2 with prominent manifestation of dystonia: one case report

doi:10.3969/j.issn.1672-6731.2024.07.013

Abstract

Key words: Spinocerebellar ataxias, Dystonia, Pedigree, Case reports

Ya-nan ZHAO, Meng LI, Yan-bo FANG, Wen-jing DENG. Spinocerebellar ataxia type 2 with prominent manifestation of dystonia: one case report[J]. Chinese Journal of Contemporary Neurology and Neurosurgery, 2024, 24(7): 579-582.

赵亚楠, 李梦, 方艳博, 邓文静. 以肌张力障碍为发病特点的脊髓小脑性共济失调2型一例[J]. 中国现代神经疾病杂志, 2024, 24(7): 579-582.

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http://journal11.magtechjournal.com/cjcnn/EN/Y2024/V24/I7/579

Figures/Tables 3

Figure 1 Pedigree of SCA2 family.

Figure 2 Head MRI of the proband showed atrophy of cerebellar and brainstem, and mild atrophy of cerebral cortex (arrows indicate). Axial T₂WI of cerebellar level (Panel 2a). Axial T₂WI of basal ganglia level (Panel 2b). Sagittal T1WI (Panel 2c).

Figure 3 ATXN2 gene test findings The repeats of CAG in the abnormal allele in the ATXN2 gene of proband were 42 (red arrow indicates) and the repeats of CAG in the normal allele were 18 (black arrow indicates), indicating SCA2 (Panel 3a). The repeats of CAG in 2 alleles in the ATXN2 gene of proband′s sister were 18 (red arrow indicates) and 14 (black arrow indicates), respectively (Panel 3b). The repeats of CAG in 2 alleles in the ATXN2 gene of proband′s brother were 18 (black arrow indicates, Panel 3c).

References 20

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