Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by the death of motor neurons. To date, more than 20 genes have been implicated in ALS, and of these, the 2 most frequently mutated are the superoxide dismutase 1 (SOD1) gene and the chromosome 9 open reading frame 72 (C9ORF72) gene. In this study, we aimed to investigate the contribution of these 2 Mendelian genes to the development of the disease in Hungarian ALS patients (n = 66). Direct sequencing of the SOD1 gene revealed a novel (p.Lys91ArgfsTer8) and 3 recurrent heterozygous mutations (p.Val14Met, p.Asp90Ala, and p.Leu144Phe) in 5 patients. The novel p.Lys91ArgfsTer8 mutation led to a frameshift causing the addition of 8 new amino acids, including a premature stop codon at position 99. The GGGGCC hexanucleotide repeat expansion of the C9ORF72 gene was present in 1 ALS patient. This study represents the first genetic analysis of 2 major ALS causative genes in a cohort of Hungarian ALS patients and contributes to the further understanding of the genetic and phenotypic diversity of ALS.

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This report presents a fatal case related to the consumption of methylone, a relatively new cathinone type designer drug. A 16-year-old boy suddenly lost his consciousness in a party. Resuscitation had been continued for about 1.5 hours at the intensive care unit, but it was unsuccessful. His previous history included cardiac malformation detected at infancy and bronchial asthma had been diagnosed one year before his death. Signs of sudden cardiac death were observed during autopsy. Methylone intake was proved in blood and liver extract using gas chromatography/mass spectrometry; its concentration was 272 ng/ml in the blood, and 387 ng/g in the liver. Pathohistology revealed microvascular steatosis in the liver, which raised the possibility of chronic use of toxic substances. In addition, striated heart muscle damage was observed, which could be due to the use of an amphetamine-like substance. The authors presume that steatosis of the heart muscle, congenital heart disease and bronchial asthma could be predisposing factors for sudden cardiac death that occurred in the presence of relatively low levels of methylone. Access to various designer drugs is easy, fast and broad. Consequently, the potential abuse or overdose should be taken into consideration in the emergency practice. The use of "non-illicit" drugs does not require formal intervention by the authorities, but the medical service must alarm the stakeholders.