Genetic mapping of a susceptibility locus for disc herniation and spastic paraplegia on 6q23.3-q24.1

Zortea, Michela; Vettori, Andrea; Trevisan, Carlo P.; Bellini, Silvia; Vazza, Giovanni; Armani, Mario; Simonati, Alessandro; Mostacciuolo, Maria Luisa

doi:10.1136/jmg.39.6.387

Cited by 30 publications

(7 citation statements)

References 16 publications

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“…Several other ARHSP loci, namely SPG14 (Vazza et al, 2000), SPG23 (Blumen et al, 2003), SPG24 (Hodgkinson et al, 2002), SPG25 (Zortea et al, 2002), SPG27 (Meijer et al, 2004;Ribaï et al, 2006), SPG32 (Stevanin et al, 2007a), and SPG45 (Dursun et al, 2009), have been identified but pathological genes are yet unknown (Tables 1 and 2). …”

Section: Spg72mentioning

confidence: 99%

Hereditary spastic paraplegia: Clinical-genetic characteristics and evolving molecular mechanisms

Giudice

Lombardi

Santorelli

et al. 2014

Experimental Neurology

294

278

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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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Section: Spg72mentioning

confidence: 99%

Hereditary spastic paraplegia: Clinical-genetic characteristics and evolving molecular mechanisms

Giudice

Lombardi

Santorelli

et al. 2014

Experimental Neurology

294

278

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“…Aetiology: the mutated gene has not been identified yet but linkageanalysis located it to 6q23-q24 [119].…”

Section: Spg25mentioning

confidence: 99%

“…Clinical presentation: in addition to the pure phenotype, patients present with spinal disc herniations [119].…”

Section: Spg25mentioning

confidence: 99%

Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance

Finsterer

Löscher

Quasthoff

et al. 2012

Journal of the Neurological Sciences

252

213

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“…Different approaches may be necessary to identify such polymorphisms. Genetic mapping, for instance, has identified a susceptibility locus for disc herniation, but the gene involved has not yet been identified [116]. …”

Section: Aetiology Of Disc Degenerationmentioning

confidence: 99%

Untitled

2003

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The intervertebral disc is a cartilaginous structure that resembles articular cartilage in its biochemistry, but morphologically it is clearly different. It shows degenerative and ageing changes earlier than does any other connective tissue in the body. It is believed to be important clinically because there is an association of disc degeneration with back pain. Current treatments are predominantly conservative or, less commonly, surgical; in many cases there is no clear diagnosis and therapy is considered inadequate. New developments, such as genetic and biological approaches, may allow better diagnosis and treatments in the future.

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Genetic mapping of a susceptibility locus for disc herniation and spastic paraplegia on 6q23.3-q24.1

Cited by 30 publications

References 16 publications

Hereditary spastic paraplegia: Clinical-genetic characteristics and evolving molecular mechanisms

Hereditary spastic paraplegia: Clinical-genetic characteristics and evolving molecular mechanisms

Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance

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