Contents


Preface

Motor neuron diseases (MNDs) are a clinically and pathologically heterogenous group of neurodegenerative disorders, which are associated with progressive damage of the upper (UMN) or lower motor neurons (LMN) or both. MNDs encompass disorders such as amyotrophic lateral sclerosis (ALS), spinal muscular atrophy (SMA), spinobulbar muscular atrophy (SBMA), and hereditary spastic paraparesis (HSP). The involvement of the LMN manifests with muscle weakness, atrophy, and fasciculations. On the other hand, the degradation of the UMN leads to spastic paresis, hyperreflexia, clonus, and positive Babinski sign. Due to a wide variety of clinical phenotypes, complex genetical background, as well as the absence of reliable biomarkers, some MNDs still pose a diagnostic challenge for clinicians. Regarding SMA, the unraveling of the underlying genetical pathology led to the discovery of three efficacious and safe therapeutic interventions. These therapies, however, are not curative. Concerning ALS, the most common form of ALS has been identified in the course of intense research over 50 potentially causative or disease-modifying genes. Sadly, despite these advances, treatment options remain limited for the majority of ALS patients. In this book, we address the latest scientific updates in the genetics,

**Natalia Szejko**

Warsaw, Poland

**Kamila Saramak**

Hochzirl Hospital, Zirl, Austria

University of Calgary, Alberta, Canada

Department of Bioethics, Medical University of Warsaw,

Department of Neurology,

Department of Clinical Neurosciences,

pathophysiology, diagnostics, and treatment of MNDs.
