Assessing the NOTCH2NLC GGC repeat expansion in Taiwanese patients with hereditary spastic paraplegia

Shao-Lun Hsu; Kang-Yang Jih; Kon-Ping Lin; Yi-Chu Liao; Yi-Chung Lee

doi:10.1016/j.parkreldis.2022.02.004

Assessing the NOTCH2NLC GGC repeat expansion in Taiwanese patients with hereditary spastic paraplegia

Parkinsonism Relat Disord. 2022 Mar:96:43-44. doi: 10.1016/j.parkreldis.2022.02.004. Epub 2022 Feb 13.

Authors

Shao-Lun Hsu¹, Kang-Yang Jih², Kon-Ping Lin¹, Yi-Chu Liao³, Yi-Chung Lee⁴

Affiliations

¹ Department of Neurology, Taipei Veterans General Hospital, Taipei, Taiwan; Department of Neurology, National Yang Ming Chiao Tung University School of Medicine, Taipei, Taiwan.
² Department of Neurology, Taipei Veterans General Hospital, Taipei, Taiwan; Department of Neurology, National Yang Ming Chiao Tung University School of Medicine, Taipei, Taiwan; Department of Physiology, National Yang Ming Chiao Tung University School of Medicine, Taipei, Taiwan.
³ Department of Neurology, Taipei Veterans General Hospital, Taipei, Taiwan; Department of Neurology, National Yang Ming Chiao Tung University School of Medicine, Taipei, Taiwan; Brain Research Center, National Yang Ming Chiao Tung University, Taipei, Taiwan.
⁴ Department of Neurology, Taipei Veterans General Hospital, Taipei, Taiwan; Department of Neurology, National Yang Ming Chiao Tung University School of Medicine, Taipei, Taiwan; Brain Research Center, National Yang Ming Chiao Tung University, Taipei, Taiwan. Electronic address: [email protected].

PMID: 35180462
DOI: 10.1016/j.parkreldis.2022.02.004

Abstract

We investigated 98 Taiwanese patients with molecularly unassigned hereditary spastic paraplegia (HSP) and found none of them had the NOTCH2NLC GGC repeat expansion, which is the cause of neuronal intranuclear inclusion disease (NIID). Our findings suggest that the NOTCH2NLC GGC repeat expansion may not contribute to HSP.

Keywords: GGC repeat Expansion; HSP; Hereditary spastic paraplegia; NIID; NOTCH2NLC.

Publication types

Letter
Research Support, Non-U.S. Gov't

MeSH terms

Asian People
Humans
Intranuclear Inclusion Bodies
Neurodegenerative Diseases* / genetics
Spastic Paraplegia, Hereditary* / genetics
Trinucleotide Repeat Expansion