Summary Multiple sclerosis (MS) is probably aetiologically heterogeneous. Systematic genetic epidemiological and molecular genetic studies have provided important insights. Both genetic and non-genetic (environment, stochastic) factors may be involved in susceptibility as well as outcome, but we have yet to understand their relative roles. Any environmental factor is likely to be ubiquitous and act on a population-basis rather than within the family microenvironment. Taken together, the results of genome screening studies provide strong evidence for exclusion of a major locus in MS. There are, however, many genes that seem to be associated with MS. These include, but are in no way limited to, HLA classes I and II, T-cell receptor β, CTLA4, ICAM1, and SH2D2A . The future of MS genetics, as for most common complex disorders, will be dependent on the resources available, ranging from biological samples and comprehensive databases of clinical and epidemiological information to the development of new technologies and statistical methods.

Genetics of multiple sclerosis

Vesicourethral dysfunction is very frequent in multiple sclerosis (MS) and has functional consequences for patients' quality of life and also an organic impact following complications of the neurogenic bladder on the upper urinary tract. While the functional impact and its management are well documented in the literature, the organic impact remains underestimated and there are no consensual practical guidelines for the screening and prevention of MS neurogenic bladder complications. The aim of this review of the literature, focused on identifying the risk factors of urinary tract complications in MS, is to put forward well informed considerations to help in the definition of practical guidelines for the follow-up of the neurogenic bladder in MS in order to improve its prevention and patient management. Four main risk factors have been identified for upper urinary tract damage: the duration of MS, the presence of an indwelling catheter, high-amplitude neurogenic detrusor contractions and permanent high detrusor pressure. Detrusor-sphincter dyssynergia, age over 50 and male sex may form three additional risk factors. Recommendations for long-term urological follow-up, taking into account these specific risks are constructed according to the procedures recommended by the French Health Authorities.

The neurogenic bladder in multiple sclerosis: review of the literature and proposal of management guidelines:

https://www.europeanurology.com/article/S0302-2838(07)01264-X/pdf

Botulinum Toxin A (Botox®) Intradetrusor Injections in Adults with Neurogenic Detrusor Overactivity/Neurogenic Overactive Bladder: A Systematic Literature Review

One hundred and seventy patients with multiple sclerosis and bladder dysfunction were evaluated. Emphasis was placed on the relationship between their neurological features and urinary symptoms. The severity of the urinary symptoms was related to the degree of pyramidal impairment in the lower limbs so that both problems are thought to reflect the extent of spinal involvement. No other neurological features correlated with bladder dysfunction. Detrusor hyperreflexia was the commonest finding on cystometry and no patient had areflexia. More than half of the patients had a significantly raised post-micturition residual volume but symptoms were largely unreliable in predicting poor bladder emptying. In this series only two patients had evidence of upper tract disease: both men with severe, longstanding neurological disease who had indwelling catheters. Detrusor hyperreflexia can be anticipated in patients with MS who have irritative urinary symptoms and pyramidal signs in their lower limbs. After measurement of the residual volume appropriate treatment can be instituted.

https://jnnp.bmj.com/content/jnnp/56/3/245.full.pdf

Urinary symptoms and the neurological features of bladder dysfunction in multiple sclerosis.

Multiple sclerosis and the urologist

Relationship between neurological and urological status in patients with multiple sclerosis.

Four published genome screens have identified a number of markers with increased sharing in multiple sclerosis (MS) families, although none has reached statistical significance. One hundred and five markers previously identified as showing increased sharing in Canadian, British, Finnish, and American genome screens were genotyped in 219 sibling pairs ascertained from the database of the Canadian Collaborative Project on Genetic Susceptibility to MS (CCPGSMS). No markers examined met criteria for significant linkage. Markers located at 5p14 and 17q22 were analyzed in a total of 333 sibling pairs and attained mlod scores of 2.27 and 1.14, respectively. The known HLA Class II DRB1 association with MS was confirmed (P<0.0001). Significant transmission disequilibrium was also observed for D17S789 at 17q22 (P=0.0015). This study highlights the difficulty of searching for genes with only mild-to-moderate effects on susceptibility, although large effects of specific loci may still be present in individual families. Future progress in the genetics of this complex trait may be helped by (1) focussing on more ethnically homogeneous samples, (2) using an increased number of MS families, and (3) using transmission disequilibrium analysis in candidate regions rather than the affected relative pair linkage analysis.

Genetic susceptibility to MS: a second stage analysis in Canadian MS families

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Relationship between neurological and urological status in patients with multiple sclerosis.

Genetic susceptibility to MS: a second stage analysis in Canadian MS families