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Delving into the complexity of hereditary spastic paraplegias: how unexpected phenotypes and inheritance modes are revolutionizing their nosology

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Academic year: 2021

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Table 1  List of the most important differential diagnoses to hereditary spastic paraplegia with suggested supplementary investigations Type of diseaseDiseaseInvestigationsCharacteristics other than spasticity and Babinski signb Structural anoma- lies and
Table 1  continued Type of diseaseDiseaseInvestigationsCharacteristics other than spasticity and Babinski signb  Refsum diseaseBrain MRI, accumulation of an unusual  branched-chain fatty acid, phytanic acid, in  blood and tissues
Table 2  HSP genes and their associated phenotypes SPG no  (HUGO)  (inheritance)
Table 2  continued SPG no  (HUGO)  (inheritance)
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