The DOI matches its Crossref record; 212 of the 212 references it cites were found in a registry or an index.
Hereditary spastic paraplegia: Clinical-genetic characteristics and evolving molecular mechanisms
Open accessAbstract
Hereditary spastic paraplegia (HSP) is a group of clinically and genetically heterogeneous neurological disorders characterized by pathophysiologic hallmark of length-dependent distal axonal degeneration of the corticospinal tracts. The prominent features of this pathological condition are progressive spasticity and weakness of the lower limbs. To date, 72 spastic gait disease-loci and 55 spastic paraplegia genes (SPGs) have been identified. All modes of inheritance (autosomal dominant, autosomal recessive, and X-linked) have been described. Recently, a late onset spastic gait disorder with maternal trait of inheritance has been reported, as well as mutations in genes not yet classified as spastic gait disease. Several cellular processes are involved in its pathogenesis, such as membrane and axonal transport, endoplasmic reticulum membrane modeling and shaping, mitochondrial function, DNA repair, autophagy, and abnormalities in lipid metabolism and myelination processes. Moreover, recent evidences have been found about the impairment of endosome membrane trafficking in vesicle formation and about the involvement of oxidative stress and mtDNA polymorphisms in the onset of the disease. Interactome networks have been postulated by bioinformatics and biological analyses of spastic paraplegia genes, which would contribute to the development of new therapeutic approaches.
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Metadata
- Authors
- Lo Giudice, T., Lombardi, F., Santorelli, F. M., Kawarai, T., & Orlacchio, A.
- Venue
- Experimental Neurology
- Publisher
- Elsevier BV
- Published
- 2014-11
- Volume
- 261
- Pages
- 518-539
- ISSN
- 0014-4886 (ISSN-L)
- OpenAlex
- W2026451030
- Cited by
- 347
- References
- 212
- FWCI
- 12.08
- Type
- journal article
- Language
- en
- Open access
- hybrid
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- Lo Giudice, T., Lombardi, F., Santorelli, F. M., Kawarai, T., & Orlacchio, A. (2014). Hereditary spastic paraplegia: Clinical-genetic characteristics and evolving molecular mechanisms. Experimental Neurology. https://doi.org/10.1016/j.expneurol.2014.06.011
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
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