What is it about?
SPG 8 is a rare reason of spastic paraplegia described only in fifteen families in the world. We describe all mutations of KIAA0196 gene related to SPG8 which have been published up till now and clinical features of patient with V620Ala mutation.
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Why is it important?
This is the first patient in Poland with SPG 8 and second in the world owing to V620Ala mutation.
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This page is a summary of: First patient with hereditary spastic paraplegia type 8 in Poland, Clinical Case Reports, July 2017, Wiley,
DOI: 10.1002/ccr3.1080.
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