Special Issue "Molecular Mechanism Underlying Rare Inherited Neurological Diseases"
Deadline for manuscript submissions: 30 November 2021.
Interests: molecular and biochemical bases of lysosomal diseases; epidemiology of lysosomal diseases; development of novel diagnostic procedure; monitoring of treatment efficacy; biomarkers
Special Issues and Collections in MDPI journals
Interests: peroxisomes; adrenoleukodystrophy; plasmalogens; ether-lipids; lipids in Alzheimer’s disease; peroxisomes in Alzheimer’s disease; adrenomyeloneuropathy; ABCD1; brain inflammation
A disease is considered rare when it affects less than one person in 2000 live births. Currently, about 6000 rare diseases are distinguished, but the awareness of medical and general society is still insufficient. Among these diseases are genetically inherited diseases related to various disorders of the nervous system. The molecular mechanisms underlying these diseases are differential. Some of them have a metabolic basis, such as lysosomal diseases, peroxisomal diseases, mitochondrial diseases, other metabolic leukodystrophies, disorders of metal metabolism, disturbances of vitamin metabolism, disturbances of neurotransmitter metabolism and many others. There is also a huge group of monogenic neurodegenerative and neuromuscular diseases. Recently, studies on oxidative stress and immune system response have displayed a great role in elucidating the bases of neurological diseases.
Due to often irreversible changes in the nervous system, therapies should be implemented at the very early stages of a disease. This leads to a demand for the development of reliable diagnostic methods to improve the efficacy of treatment.
In this Special Issue, we want to present the latest scientific achievements in the research on rare, genetically determined diseases that affect the nervous system. These studies are broad in nature and cover both molecular and cellular aspects. We focus on studies related to the explanation of pathomechanisms, diagnostics, those searching for new targeted treatment strategies and new biomarkers for the detection of patients, and the use of new research techniques.
Both original and review articles or communications providing new insights into the subject are welcomed.
Dr. Agnieszka Ługowska
Prof. Dr. Johannes Berger
Manuscript Submission Information
Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All papers will be peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.
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- rare genetic diseases;
- inherited metabolic diseases;
- translational research;
- proteomic research;
- novel therapies for genetic metabolic diseases;
- pathogenesis of disease;
- molecular background of genetic diseases;
- biochemical background of genetic diseases;
- new approaches in research and diagnosis