Two types of recessive hereditary spastic paraplegia in Roma patients in compound heterozygous state; no ethnically prevalent variant found
Neuroscience Letters(2020)
摘要
•Two first Czech Roma patients with hereditary spastic paraplegia genetically diagnosed.•Third patient/family with pure phenotype in SPG77 described worldwide.•None of detected pathogenic variants is prevalent in the Czech Roma population.•Both patients are surprisingly compound heterozygotes for two variants and not homozygotes.•Gene panel sequencing with robust CNV analysis is the most effective approach for HSP Roma patients.
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关键词
Hereditary spastic paraplegia,Czech Roma population,Prevalent variant,SPG11,SPG77
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