Spastic Paraplegia Type 78 Associated With ATP13A2 Gene Variants in Compound Heterozygosity

Spastic Paraplegia Type 78 Associated With ATP13A2 Gene Variants in Compound Heterozygosity

ABSTRACT Background Spastic Paraplegia Type 78 (SPG78) is a rare form of hereditary spastic paraplegia (HSP), mainly characterized by late‐onset lower‐limb spasticity, muscle weakness, and in some cases cerebellar dysfunction and cognitive impairment. Understanding its genetic background is essentia...

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Bibliographic Details
Main Authors: R. Bermejo Ramírez, N. Villena Gascó, L. Ruiz Palmero, G. A. Ribes Bueno, E. Seiti Yamanaka, J. D. Arroyo Andújar
Format: Article
Language:English
Published: Wiley 2025-02-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
ATP13A2
hereditary spastic paraplegia
pathogenic variant
spastic paraplegia type 78
whole‐exome sequencing
Online Access:https://doi.org/10.1002/mgg3.70073
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https://doi.org/10.1002/mgg3.70073

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