Disease-Causing Variants in the ATL1 Gene Are a Rare Cause of Hereditary Spastic Paraplegia among Czech Patients.

Variants in the ATL1 gene have been repeatedly described as the second most frequent cause of hereditary spastic paraplegia (HSP), a motor neuron disease manifested by progressive lower limb spasticity and weakness. Variants in ATL1 have been described mainly in patients with early onset HSP. We performed Sanger sequencing of all coding exons and adjacent intron regions of the ALT1 gene in 111 Czech patients with pure form of HSP and additional Multiplex-Ligation Probe Analysis (MLPA) testing targeting the ATL1 gene in 56 of them.

SPAST mutation spectrum and familial occurrence among Czech patients with pure hereditary spastic paraplegia.

The SPAST gene has a major role in hereditary spastic paraplegias (HSPs). This is the first report mapping characteristics of the SPAST gene in a large cohort of Czech HSP patients. All 17 coding exons of the SPAST gene were Sanger sequenced in 327 patients from 263 independent families with suspected uncomplicated HSP.

[Comparison of nutrient media for isolation of microflora in swine dysentery].

The usability of five nutrient media - three kinds of spirolate media, thioglycolate medium and brain hearth medium - suitable for the isolation of Vibrio coli and germs similar to borrelia isolated from pigs affected by dysentery, and vibria isolated from cattle, was compared in the study. The results of comparison show that fresh-prepared substrates must be used bor the isolation of the mentioned germs in all cases and a corresponding medium must be provided. The modified spirolate media prepared from inland and imported ingredients were suitable for the isolation of the mentioned microorganisms even in the case of their use as selective media after enrichment with antibiotics.