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Expert commentary for fragile X premutation mimicking late onset hereditary spastic paraplegia.
- 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]
- Subjects :
- *FAMILIAL spastic paraplegia
*GENETIC testing
*ATAXIA
Subjects
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