Abstract:Juvenile amyotrophic lateral sclerosis (ALS) presents a group of few rare monogenic disorders with onset from early childhood up to 25 years and much more benign course than “classic” ALS. Autosomal dominant ALS type 4 (ALS4) related to SETX gene is one of them. In spite of characteristic combined involvement of central and peripheral motor neurons, ALS4 clinical diagnostics may be difficult, particularly in atypical and/or non‑familial cases and electroneuromyography underestimation. Massive parallel sequenci… Show more
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