Genetics and Treatment of Inherited Neurological Diseases of the Spinal Cord
A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Neurogenomics".
Deadline for manuscript submissions: 15 May 2026 | Viewed by 6
Special Issue Editor
Interests: spinal and bulbar muscular atrophy; motor neuron disease; neurogenetics; amyotrophic lateral sclerosis type 4
Special Issues, Collections and Topics in MDPI journals
Special Issue Information
Dear Colleagues,
Hereditary diseases of the spinal cord include a diverse array of conditions including motor neuron disease, hereditary spastic paraplegias, spastic ataxias, and inborn errors in metabolism such as adrenomyeloneuropathy. The phenotypic spectrum can be broad and include muscle loss, spasticity, gait impairment, sensory loss, and spincter dysfunction. Progress has been made in identifying genes implicated in familial forms of disease and discovering pathways and cellular processes that are altered by mutations in them. Candidate genes with high penetrance have typically been identified through linkage analysis and next-generation sequencing, while other strategies, including genome-wide association studies, have been used to identify genes with low disease penetrance. The identification of genetic causes and risk factors is helpful in not only developing better models of disease and understanding their pathogenesis, but also guiding the rationale and design of new avenues for therapeutic development. Examples of success with this approach include the development of an antisense oligonucleotide (nusinersen) which can target exon 7 retention in the SMN2 gene and improve the amount of functional SMN protein in patients with spinal muscular atrophy (SMA), and the antisense oligonucleotide tofersen for treatment of familial amyotrophic lateral sclerosis (ALS) caused by mutation in the SOD1 gene. Nusinersen was approved by the US Food and Drug Agency in 2016 for the treatment of SMA, while tofersen was approved for patients with ALS and mutation in the SOD1 gene in 2023.
This Special Issue aims to provide a broad and updated overview of the genetics of inherited spinal cord diseases and the resulting clinical and molecular observations, which may lead to new therapeutic insights for their treatment.
Dr. Christopher Grunseich
Guest Editor
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Keywords
- motor neuron disease
- hereditary spastic paraplegias
- spastic ataxia
- inborn errors in metabolism
- adrenomyeloneuropathy
- leukodystrophy
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