脊髓小脑性共济失调14型1例病例汇报

A Case Report of Spinocerebellar Ataxia Type 14

摘要

目的：报告1例以四肢不自主运动及右侧肢体无力为主要表现的脊髓小脑共济失调14型（spinocerebellar ataxia type 14，SCA14）病例，结合临床特征、基因检测及文献复习，探讨其诊断与鉴别要点。方法：对河北北方学院附属第一医院收治的1例63岁女性患者进行临床评估，包括病史采集、神经系统查体、脑脊液分析、影像学检查及基因测序，并回顾相关文献。结果：该患者家族有2人已经出现肢体不自主运动症状，表现为进行性四肢震颤，家族史提示常染色体显性遗传模式。基因检测发现PRKCG基因错义突变（c.1234G>A，p.Gly412Arg），确诊为SCA14。经对症治疗及康复干预，症状有所改善。结论：SCA14临床异质性强，以震颤、肌张力障碍和共济失调为特征，基因检测是确诊关键。早期识别及干预可延缓功能衰退，遗传咨询对家族成员风险评估至关重要。

Abstract

Objective: To report one case of spinocerebellar ataxia type 14 (SCA14) mainly presenting with involuntary limb movements and right limb weakness, and to explore the key points of diagnosis and differential diagnosis combined with clinical features, genetic testing and literature review. Methods: Clinical evaluation was performed in a 63-year-old female patient, including medical history collection, neurological examination, cerebrospinal fluid analysis, imaging examination and genetic sequencing, with relevant literature reviewed. Results: Two family members of the patient had presented involuntary limb movements manifested as progressive limb tremor. The family history suggested an autosomal dominant inheritance pattern. Genetic testing identified a missense mutation of the PRKCG gene (c.1234G>A, p.Gly412Arg), and the patient was finally diagnosed with SCA14. Symptomatic treatment and rehabilitation intervention achieved partial improvement of clinical symptoms. Conclusion: SCA14 shows strong clinical heterogeneity, characterized by tremor, dystonia and ataxia. Genetic testing is the key to definite diagnosis. Early recognition and intervention can delay functional decline, and genetic counseling is essential for risk assessment of family members.

关键词

脊髓小脑共济失调 / 临床表现 / 早期诊断

Key words

spinocerebellar ataxia / clinical manifestation / early diagnosis

参考文献

[1] Brent L Fogel, Hane Lee, Joshua L Deignan, et al. Exome sequencing in the clinical diagnosis of sporadic or familial cerebellar ataxia[J]. JAMA Neurol, 2014, 71(10): 1237-1246.

[2] Kathie J Ngo, Jessica E Rexach, Hane Lee, et al. A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders[J]. Hum Mutat, 2020, 41(2): 487-501.

[3] 中华医学会神经病学分会神经遗传学组. 中国遗传性共济失调诊治专家共识2024[J]. 中华神经科杂志, 2024, 57(4): 315-325.

[4] 张妞妞, 刘新通. 脊髓小脑共济失调治疗研究新进展[J]. 中国医学前沿杂志（电子版）, 2024, 16(5): 89.

[5] 李萍. 遗传性脊髓小脑共济失调14型一家系：临床、影像学和遗传学特征[D]. 南昌： 南昌大学医学部, 2024.

[6] Alex Tiburtino Meira, Walter Oleschko Arruda, Sergio Eiji Ono, et al. Neuroradiological findings in the spinocerebellar ataxias[J]. Tremor Other Hyperkinet Mov (N Y), 2019, 26: 9.

[7] Susanne Döhlinger, Till—Karsten Hauser, Johannes Borkert, et al. Magnetic resonance imaging in spinocerebellar ataxias[J]. Cerebellum, 2008, 7(2): 204-214.

[8] Niharika Duggirala, Kathie J Ngo, Sabrina M Pagnoni, et al. Spinocerebellar ataxia type 14 (SCA14) in an Argentinian family: a case report[J]. J Med Case Rep, 2023, 17(1): 168.

[9] Sohaila Alshimemeri, Lamya Alsaghan, Danah Abo Alsamh, et al. Rare spinocerebellar ataxia types in canada: a case series and review of the literature[J]. Can J Neurol Sci, 2024: 1-10.

[10] Sun Rong, Tang Xiang, Cao Xue—qin, et al. Novel mutation in exon11 of PRKCG (SCA14): a case report[J]. Front Genet, 2023, 14: 1129988.

[11] Asako Takei, Shinsuke Hamada, Sanae Homma, et al. Difference in the effects of tandospirone on ataxia in various types of spinocerebellar degeneration: an open—label study[J]. Cerebellum, 2010, 9(4): 567-570.

[12] Asako Takei, Toshiyuki Fukazawa, Takeshi Hamada, et al. Effects of tandospirone on "5—HT1A receptor—associated symptoms" in patients with Machado—Josephe disease: an open—label study[J]. Clin Neuropharmacol, 2004, 27(1): 9-13.