Wagle Shukla Aparna, Chitnis Shilpa, Malaty Irene A, Zeilman Pam
Department of Neurology, Fixel Institute for Neurological Diseases, University of Florida, Gainesville, FL, United States.
UT Southwestern Medical Center, Dallas, TX, United States.
Dystonia. 2023;2. doi: 10.3389/dyst.2023.11363. Epub 2023 Jun 30.
Spinocerebellar ataxia 17 (SCA17) is a rare autosomal dominant trinucleotide disorder. There are no effective therapies for addressing the clinical symptoms of SCA17.
We describe a 46-year-old male who presented with symptoms of generalized dystonia and focal arm tremors manifesting during adolescence. He underwent bilateral globus pallidus (GPi) DBS surgery that led to notable improvements in dystonia and tremor symptoms, impacting his quality of life. At the time of surgery, he did not show cerebellar ataxia features; however, these began to manifest 2 years after DBS surgery. He subsequently underwent genetic testing that confirmed the SCA17 diagnosis. Currently, at 13 years of follow-up, although the ataxia has continued to worsen, DBS therapy has led to persistent improvements in dystonia, tremor, and many aspects of quality of life.
The current case indicates that DBS is a promising symptomatic therapy for dystonia and tremor in SCA17.
脊髓小脑共济失调17型（SCA17）是一种罕见的常染色体显性三核苷酸疾病。目前尚无有效疗法来解决SCA17的临床症状。
我们描述了一名46岁男性，他在青春期出现全身性肌张力障碍和局灶性手臂震颤症状。他接受了双侧苍白球内侧核（GPi）脑深部电刺激（DBS）手术，术后肌张力障碍和震颤症状显著改善，生活质量得到提高。手术时，他未表现出小脑共济失调特征；然而，这些特征在DBS手术后2年开始显现。随后他接受了基因检测，确诊为SCA17。目前，经过13年的随访，尽管共济失调持续恶化，但DBS治疗使肌张力障碍、震颤及生活质量的多个方面持续改善。
当前病例表明，DBS是治疗SCA17所致肌张力障碍和震颤的一种有前景的对症疗法。
