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. All patients except seven were previously tested by Sanger sequencing of the SPAST gene with negative results. ATL1 diagnostic testing revealed only five missense variants in the ATL1 gene. Four of them are novel, but we suppose only two of them to be pathogenic and causal. The remaining variants are assumed to be benign. MLPA testing in 56 of sequence variant negative patients revealed no gross deletion in the ATL1 gene. Variants in the ATL1 gene are more frequent in patients with early onset HSP, but in general the occurrence of pathogenic variants in the ATL1 gene is low in our cohort, less than 4.5% and less than 11.1% in patients with onset before the age of ten. Variants in the ATL1 gene are a less frequent cause of HSP among Czech patients than has been previously reported among other populations.

• MeSH
• dítě MeSH
• exony MeSH
• introny MeSH
• kojenec MeSH
• lidé středního věku MeSH
• lidé MeSH
• membránové proteiny genetika   MeSH
• missense mutace MeSH
• mladiství MeSH
• mladý dospělý MeSH
• mutační analýza DNA MeSH
• proteiny vázající GTP genetika   MeSH
• rodokmen MeSH
• spastická paraplegie dědičná genetika   MeSH
• Check Tag
• dítě MeSH
• kojenec MeSH
• lidé středního věku MeSH
• lidé MeSH
• mladiství MeSH
• mladý dospělý MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• Geografické názvy
• Česká republika MeSH

PURPOSE: The aim of this study was to analyze homocysteine, folate and cobalamin in men with normozoospermia, obstructive and non-obstructive azoospermia. METHODS: Analysis of plasma and seminal plasma homocysteine, folate and cobalamin in 72 azoospermic and 62 normozoospermic men. Evaluation of the azoospermic patient included testicular biopsy, endocrine, urological and ultrasound examination. RESULTS: Homocysteine (1.2 μmol/l) and cobalamin (322.05 pmol/l) concentrations (median values) in seminal plasma were significantly lower (p < 0.001) in men with azoospermia than in men with normozoospermia (2.5 μmol/l and 579.0 pmol/l). Folate and cobalamin concentrations were significantly higher in obstructive than in non-obstructive azoospermia. Significant correlations were determined between testis volume and seminal plasma homocysteine in azoospermic men. CONCLUSION: Lower concentrations of homocysteine and cobalamin (but not folate) were found in azoospermic seminal plasma than normozoospermic. Folate and cobalamin were higher in seminal plasma from obstructive azoospermia than in non-obstructive azoospermia patients.

• MeSH
• azoospermie krev   MeSH
• dospělí MeSH
• homocystein krev   MeSH
• kyselina listová krev   MeSH
• lidé MeSH
• luminiscence MeSH
• neparametrická statistika MeSH
• sperma metabolismus   MeSH
• vitamin B 12 krev   MeSH
• vysokoúčinná kapalinová chromatografie MeSH
• Check Tag
• dospělí MeSH
• lidé MeSH
• mužské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH