Neurol. praxi. 2019;20(5):332-336 | DOI: 10.36290/neu.2019.047

Genetics of hereditary spastic paraplegias

RNDr. Anna Uhrová Mészárosová, Ph.D.¹, prof. MUDr. Pavel Seeman, Ph.D.^1,2

¹ DNA laboratoř Kliniky dětské neurologie, 2. LF UK a FN Motol, Praha

² Centrum lékařské genetiky a fetální medicíny, GENNET, s. r. o., Praha

Hereditary spastic parapalegia (HSP or SPG) is clinically and genetically heterogenous serious disease of the central motoneuron. It is characterised by progressive spasticity and weakness of lower libms leading to progressive gait impairement. Pathogenic variants causing HSP in more than 90 genes or gene loci where described to date. Methods of new generation sequencing allow us to map the genetic background of HSP and to bring new knowledges about clinical spectrum of particular types of HSP. There exist at least 12 types of HSP among Czech HSP patients, the most frequent types are SPG4, SPG31 with autosomal dominant and SPG7 and SPG11 with autosomal recessive mode of inheritance, similarly like in other European countries. In spite of previously published data from other populations the occurence of SPG3 is suprisingly low in the Czech Republic. The percentage of genetically and by DNA testing evaluated patients is much higher among familial patients (more affected persons in the family) compared to the sporadic ones. These facts should be taken into account for genetic testing consideration.

Keywords: HSP, SPG4, SPG31, SPG7, SPG11, sporadic and familial patients

Received: June 4, 2019; Accepted: June 18, 2019; Prepublished online: June 18, 2019; Published: November 1, 2019  Show citation