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Expert commentary for fragile X premutation mimicking late onset hereditary spastic paraplegia.

Authors :
Rudaks, Laura Ivete
Yeow, Dennis
Kumar, Kishore Raj
Source :
Parkinsonism & Related Disorders. Feb2024, Vol. 119, pN.PAG-N.PAG. 1p.
Publication Year :
2024

Abstract

• FXTAS is a clinically heterogenous disorder and should be considered as a possible diagnosis in cases of spastic ataxia. • Broader and more comprehensive genetic testing approaches may be required to ensure causative variants are not missed. • Long-read sequencing is a promising approach for the evaluation of spastic ataxias. [ABSTRACT FROM AUTHOR]

Details

Language :
English
ISSN :
13538020
Volume :
119
Database :
Academic Search Index
Journal :
Parkinsonism & Related Disorders
Publication Type :
Academic Journal
Accession number :
174842404
Full Text :
https://doi.org/10.1016/j.parkreldis.2023.105969