Rev Neurol France
-
ALS is now understood to be a complex multisystem neurodegenerative disease because areas other than the motor cortices of the brain undergo degeneration. Frontotemporal dementia (FTD) may be associated with motor neuron disease, and the transactive response DNA-binding protein 43 (TDP-43) is a major pathological substrate underlying both diseases. ⋯ These findings would allow the development of potential biomarkers and therapeutic targets for these devastating diseases. This review summarizes the key points leading up to our current understanding of the genetic, clinical and neuropathological overlap between FTD and ALS.
-
Amyotrophic lateral sclerosis (ALS) is a fatal motor neuron disease characterized by upper and lower motor neuron damage in the bulbar and spinal territories. Although the pathophysiology of ALS is still unknown, the involvement of genetic factors is no longer a subject of debate. ⋯ Since the identification of the SOD1 gene, more than 20 genes have been described, of which four can explain >50% of familial cases. This review is an update focused on major aspects of the field of ALS genetics concerning both causative and susceptibility factors.
-
Neuronal and/or axonal hyperactivity and hyperexcitability is an important feature of motor neuron diseases. It results clinically in cramps and fasciculations. It is not specific to motor neuron diseases, and can occur in healthy subjects, as well as in various pathologies of the peripheral nervous system, including nerve hyperexcitability syndromes. ⋯ The contribution of these modifications to ALS diagnosis has been the subject of several studies. In clinical practice, it is necessary to distinguish fasciculations potentials of motor neuron disease from benign fasciculations. In most studies of fasciculation potentials in ALS, the presence of complex fasciculation potentials appears to be relevant for the diagnosis and the prognosis of the disease.
-
Since 2015, the emergence of mechanical thrombectomy as standard care in acute stroke has involved organizational changes not only for stroke centers, but also for entire emergency regional networks. The aim of our study was to assess the proportion of ischemic stroke patients, admitted to stroke units in the Northern French Alps within the first 6h of onset, eligible for thrombectomy. ⋯ Thrombectomy could be performed in 26% of our acute ischemic stroke patients (n=115/435), and a large increase in endovascular procedures is expected over the next few years that will require close collaboration among all partners in the emergency networks. Using our RENAU stroke database, it will be possible to compare various factors contributing to effective activity.