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Symptomatic Female Spastic Paraplegia Patient with a Novel Heterozygous Variant of the PLP1 Gene.
- Source :
- Annals of Indian Academy of Neurology; Nov/Dec2021, Vol. 24 Issue 6, p958-960, 3p
- Publication Year :
- 2021
-
Abstract
- A case study of a 47‑year‑old unmarried female presented with gait disturbance and voiding difficulty with a novel heterozygous variant of the PLP1 gene. Topics include somatosensory evoked potential tests showed a central conduction defect in the left median and bilateral tibial nerve stimulations; and using whole‑exome sequencing (WES), we identified a novel heterozygous duplication mutation in PLP1, causing the condition.
Details
- Language :
- English
- ISSN :
- 09722327
- Volume :
- 24
- Issue :
- 6
- Database :
- Complementary Index
- Journal :
- Annals of Indian Academy of Neurology
- Publication Type :
- Academic Journal
- Accession number :
- 154230881
- Full Text :
- https://doi.org/10.4103/aian.AIAN_793_20