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- W3033410070 abstract "Introduction Amyotrophic lateral sclerosis (ALS) is a complex neurodegenerative disease predominantly affecting upper and lower motor neurons. Diagnosis of this devastating pathology is very difficult because the high degree of clinical heterogeneity with which it occurs and until now, no truly effective treatment exists.Areas covered Molecular diagnosis may be a valuable tool for dissecting out ALS complex heterogeneity and for identifying new molecular mechanisms underlying the characteristic selective degeneration and death of motor neurons. To date, pathogenic variants in ALS genes are known to be present in up to 70% of familial and 10% of apparently sporadic ALS cases and can be associated with risks for ALS only or risks for other neurodegenerative diseases. This paper shows the procedure currently used in diagnostic laboratories to investigate most frequent mutations in ALS and evaluating the utility of involved molecular techniques as potential tools to discriminate ‘common mutations’ in ALS patients.Expert opinion Genetic testing may allow for establishing an accurate pathological diagnosis and a more precise stratification of patient groups in future drug trials." @default.
- W3033410070 created "2020-06-12" @default.
- W3033410070 creator A5038725564 @default.
- W3033410070 creator A5072014499 @default.
- W3033410070 date "2020-06-16" @default.
- W3033410070 modified "2023-10-14" @default.
- W3033410070 title "Common mutations of interest in the diagnosis of amyotrophic lateral sclerosis: how common are common mutations in ALS genes?" @default.
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