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Is Hereditary Spastic Paraplegia SPG4 Genetic?
- Heritability
- ~100%
- Inheritance
- autosomal-dominant
- Key genes
- SPAST
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SPG4 is the most common form of hereditary spastic paraplegia caused by SPAST gene mutations. It causes progressive lower limb spasticity and weakness.
How Genetic Is Hereditary Spastic Paraplegia SPG4?
Hereditary Spastic Paraplegia SPG4 has a strong genetic basis. Research estimates heritability at approximately 100%, meaning genetic factors account for the majority of variation in whether individuals develop this condition.
Key genes associated with Hereditary Spastic Paraplegia SPG4: SPAST. Variants in these genes have been identified through genome-wide association studies (GWAS) and clinical research as influencing susceptibility or severity.
Source: MedlinePlus Genetics
Does Family History Matter for Hereditary Spastic Paraplegia SPG4?
Yes — family history is one of the strongest predictors of Hereditary Spastic Paraplegia SPG4. If a first-degree relative (parent, sibling, or child) has been diagnosed, your own risk may be significantly elevated. Discussing your family history with a healthcare provider or genetic counsellor is strongly recommended.
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