A Novel SPAST Variant Associated with Isolated Spastic Paraplegia

Genetic variants in SPAST are the most common cause of hereditary spastic paraplegia (HSP), entitled spastic paraplegia type 4 (SPG4). Inheritance is autosomal dominant, and age of onset can vary from childhood to adulthood. Pathogenic SPAST variants are often observed in isolated cases, likely due...

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Bibliographic Details
Main Authors: Helle Høyer, Ola Nakken, Trygve Holmøy
Format: Article
Language:English
Published: Wiley 2023-01-01
Series:Case Reports in Genetics
Online Access:http://dx.doi.org/10.1155/2023/4553365
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