Gangfuss, Andrea and Kohl, Zacharias (2023) Amyotrophic lateral sclerosis-Motor neuron disease with a wide clinical and genetic spectrum. NERVENARZT, 94 (6). pp. 494-500. ISSN 0028-2804, 1433-0407
Full text not available from this repository. (Request a copy)Abstract
Background Amyotrophic lateral sclerosis (ALS) is the most frequent motor neuron disease. Besides a timely diagnosis, precise knowledge of the clinical manifestations and differential diagnoses is essential. While most patients develop the disease at an older age, hereditary causes play a more frequent role in the juvenile forms.Objective What is the current state of ALS diagnostics, which new treatment options exist?Material and methodLiterature search using Pubmed.gov.Results The main focus is on an individualized symptomatic treatment as no curative treatment approaches exist. However, new insights into the genetic and pathophysiological principles of the different forms of ALS open the way for future disease-modifying treatment options.Conclusion In cases of a clinical suspicion of ALS molecular genetic diagnostics should be considered, particularly in juvenile and young adult patients, to exclude differential diagnoses and to enable patients access to new treatment approaches.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | CHILDHOOD; ALS; Pathophysiology; Molecular genetic diagnostics; Protein homeostasis; Disease-modifying treatment; Tofersen |
| Subjects: | 600 Technology > 610 Medical sciences Medicine |
| Divisions: | Medicine > Lehrstuhl für Neurologie |
| Depositing User: | Dr. Gernot Deinzer |
| Date Deposited: | 10 Mar 2024 11:06 |
| Last Modified: | 10 Mar 2024 11:06 |
| URI: | https://pred.uni-regensburg.de/id/eprint/59562 |
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