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