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 which have been prescribed and uronephrological complications were also recorded. Patients with other neurological or urological diseases were excluded. Results Thirty‐three patients with HSP were included. Mean duration of follow‐up was 8.1 ± 5 years, mean age 62 ± 14 years, and 70% were men. The most frequent LUTS was urgency and voiding dysfunction (both 69.7%). Incontinence and retention with a significant postvoid residue above 100 mL accounted for 66.7% and 57.6% of initial symptoms respectively. Neurogenic detrusor overactivity was diagnosed in 80.7% of patients. Two‐thirds of our cohort were treated with anticholinergics and 9.1% required intradetrusor botulinum‐toxin injections. Only 27.3% of patients performed clean intermittent self‐catheterization. Febrile urinary tract infections (21.2%), urolithiasis (15,1%), hydronephrosis (6%), and chronic renal failure (9.1%) were found. Conclusion Given their high prevalence and the risk of uronephrological complications, LUTS should be systematically assessed in HSP patients. The systematic screening of urological dysfunction in this population would improve its management, decrease the incidence of uronephrological complications, and increase the quality of life.

A novel mutation in the UBAP1 gene causing hereditary spastic paraplegia: A case report and overview of the genotype-phenotype correlation

“…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).…”

“…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.…”

Underactive Bladder and Detrusor Underactivity: New Advances and Prospectives

“…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.…”