2019
DOI: 10.1002/nau.23957
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Urological dysfunction in patients with hereditary spastic paraplegia

Abstract: Aims Purposes of this study were to describe lower urinary tract symptoms (LUTS) and related urodynamic patterns in patients with hereditary spastic paraplegia (HSP), and to characterize LUTS management and associated uronephrological complications. Methods We retrospectively reviewed medical files of HSP patients, consecutively followed in our Physical and Rehabilitation Medicine Department between 1999 and 2016. Clinical, urodynamic, and radiological data were collected and analyzed. Different treatments whi… Show more

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Cited by 4 publications
(3 citation statements)
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“…The nonsense mutation c.535G > T (p.Glu179Ter) was identified in about 10.2% of patients (nine patients for one Japanese family and four United Kingdom families). In addition, both the c. 436_437insTGAG found by Farazi Fard et al (2019) and the c.437dupG in this study were predicted to produce a similar frameshift mutation at the 146th codon (p.Ser146Metfs*14 and p. Ser146Argfs*13). All reported mutations produced the truncate UBAP1 protein and the loss of the UBA (UBAP1-MVB12-associated) domain, which were supposed to lead to dominant-negative (DN) UBAP1 proteins (Figure 3C) Lin et al (2019).…”
Section: Literature Review On the Phenotype And Genotype Characterist...supporting
confidence: 64%
See 1 more Smart Citation
“…The nonsense mutation c.535G > T (p.Glu179Ter) was identified in about 10.2% of patients (nine patients for one Japanese family and four United Kingdom families). In addition, both the c. 436_437insTGAG found by Farazi Fard et al (2019) and the c.437dupG in this study were predicted to produce a similar frameshift mutation at the 146th codon (p.Ser146Metfs*14 and p. Ser146Argfs*13). All reported mutations produced the truncate UBAP1 protein and the loss of the UBA (UBAP1-MVB12-associated) domain, which were supposed to lead to dominant-negative (DN) UBAP1 proteins (Figure 3C) Lin et al (2019).…”
Section: Literature Review On the Phenotype And Genotype Characterist...supporting
confidence: 64%
“…Urinary bladder dysfunction is the common complication of HSP with an estimated prevalence of more than 70% in HSP patients ( Braschinsky et al, 2010 ; Fourtassi et al, 2012 ; Joussain et al, 2019 ), but shows clinical heterogeneity. However, the relationship between the occurrence of urinary dysfunction and the HSP causative genes remains unclear.…”
Section: Discussionmentioning
confidence: 99%
“…In addition to these prevalent and acknowledged neurogenic causes, there exist several unusual neurological conditions that could also be contributing to the development of DU, including inflammatory encephalomyelopathy [31], spinocerebellar ataxias (SCAs) [32], Charcot-Marie-Tooth disease (CMT) [33], neuromyelitis optica spectrum disorders (NMOSDs) [34], hereditary spastic paraplegia (HSP) [35], lumbar spinal stenosis [36], idiopathic normal pressure hydrocephalus (iNPH) [37], myelomeningocele (MMC) [38], closed spinal dysraphism (CSD) [39], and Friedreich's ataxia [40]. Certain neuroviruses, including zoster virus [41] and herpes simplex virus (HSV) [42], may also contribute to the development of UAB.…”
Section: Neurogenicmentioning
confidence: 99%