A patient with SCA17 featuring 41 CAG repeats presents with spastic paraplegia and involuntary movement

Parkinsonism Relat Disord. 2021 Aug:89:87-89. doi: 10.1016/j.parkreldis.2021.06.021. Epub 2021 Jun 29.

Authors

Yuting Ren¹, Kang Zhang¹, Qian Zhang¹, Bin Chen¹, Songtao Niu¹, Xingao Wang¹, Zaiqiang Zhang²

Affiliations

¹ Department of Neurology, Beijing Tiantan Hospital, Capital Medical University, Beijing, 100050, China.
² Department of Neurology, Beijing Tiantan Hospital, Capital Medical University, Beijing, 100050, China. Electronic address: ttyy0142011@126.com.

PMID: 34256333
DOI: 10.1016/j.parkreldis.2021.06.021

No abstract available

Keywords: Incomplete penetrance; SCA17; Spinocerebellar ataxia; TBP gene.

Publication types

Case Reports
Letter

MeSH terms

Dyskinesias / genetics*
Dyskinesias / physiopathology
Female
Humans
Middle Aged
Paraplegia / genetics*
Paraplegia / physiopathology
Penetrance
Spinocerebellar Ataxias / genetics*
Spinocerebellar Ataxias / physiopathology
TATA-Box Binding Protein / genetics*

Substances

TATA-Box Binding Protein
TBP protein, human

Supplementary concepts

Spinocerebellar Ataxia 17