Microarray-based molecular diagnostic testing in HSP

Background: Hereditary spastic paraplegias (HSP) are a genetically highly heterogeneous group of disorders. To date 30 genetic loci and 13 genes have been described (SPG1–33), two of which only this year. The most common form of HSP is SPG4, caused by spastin mutations, that accounts for about 50% of autosomal dominant disease. Other forms of HSP like SPG13 (HSP60 mutations) have been identified in single families only. Therefore, especially for rarer genetic subtypes of HSP, only rudimentary data on genotype-phenotype correlations exist. This renders cost-effective use of molecular genetic testing in HSP almost…