Clinical

SPG8 mutations in Italian families: clinical data and literature review

7 monthes ago   |   By Springer

Abstract
Background
Spastic paraplegia type 8 is an autosomal-dominant form of hereditary spastic paraplegia caused by a mutation in the KIAA0196 gene. SPG8 accounts for 1% of less of all AD-HSP and the genotype-phenotype correlation remains poorly understood.
Methods
We report the first clinical and genetic description of SPG8 disease in Italian patients. We identified four new mutations in KIAA0196 gene. These variants were identified using a multigene targeted resequencing HSP panel. We took this opportunity to review the pertinent literature.
Results
Age at disease onset was in the...
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