Clinical profile of motor neuron disease patients with lower urinary tract symptoms and neurogenic bladder

Vázquez-Costa, Juan Francisco; Arlandis, Salvador; Hervás, David; Martínez-Cuenca, Esther; Cardona, Fernando; Pérez‐Tur, Jordi; Broseta, Enrique; Sevilla, Teresa

doi:10.1016/j.jns.2017.04.053

Cited by 18 publications

(15 citation statements)

References 28 publications

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“…Our study corroborates prior studies that have described these various conditions. [13][14][15][16] It was previously believed that bladder function was not affected by DMD, however, over half of 88 boys interviewed in one study reported urinary problems. 16 Urinary complaints varied, but the most common complaints were daytime incontinence, nocturia, nocturnal enuresis, urinary frequency, and urinary urgency.…”

Section: Discussionmentioning

confidence: 87%

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Presentation and Management Patterns of Lower Urinary Tract Symptoms in Adults Due to Rare Inherited Neuromuscular Diseases

Roth

Pariser

Stout

et al. 2020

Urology

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Section: Discussionmentioning

confidence: 87%

“…In those with motor neuron diseases, urinary symptoms can be a sign of rapid disease spread or poor prognosis. 13 While it is hard to draw direct comparisons between those with SMA and motor neuron diseases, reduced mobility has been shown to contribute to functional incontinence in both groups.…”

Section: Discussionmentioning

confidence: 99%

Presentation and Management Patterns of Lower Urinary Tract Symptoms in Adults Due to Rare Inherited Neuromuscular Diseases

Roth

Pariser

Stout

et al. 2020

Urology

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“…Finally, we found that the nigrosome 1 absence is an independent prognostic factor, when adjusted for other well-known risk factors. As commented above, the absence of nigrosome 1 could be a marker of neuropathological multisystem degeneration, which ultimately associates to poor prognosis [ 3 ], as found in ALS patients with concomitant FTD or other extramotor symptoms [ 31 , 41 ].…”

Section: Discussionmentioning

confidence: 99%

Role of the nigrosome 1 absence as a biomarker in amyotrophic lateral sclerosis

et al. 2021

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Introduction The absence of nigrosome 1 on brain MRI and the hyperechogenicity of substantia nigra (SNh) by transcranial sonography are two useful biomarkers in the diagnosis of parkinsonisms. We aimed to evaluate the absence of nigrosome 1 in amyotrophic lateral sclerosis (ALS) and to address its meaning. Methods 136 ALS patients were recruited, including 16 progressive muscular atrophy (PMA) and 22 primary lateral sclerosis (PLS) patients. The SNh area was measured planimetrically by standard protocols. The nigrosome 1 status was qualitatively assessed by two blind evaluators in susceptibility weight images of 3T MRI. Demographic and clinical data were collected and the C9ORF72 expansion was tested in all patients. Results Nigrosome 1 was absent in 30% of ALS patients (36% of PLS, 29% of classical ALS and 19% of PMA patients). There was no relationship between radiological and clinical laterality, nor between nigrosome 1 and SNh area. Male sex (OR = 3.63 [1.51, 9.38], p = 0.005) and a higher upper motor neuron (UMN) score (OR = 1.10 [1.02, 1.2], p = 0.022) were independently associated to nigrosome 1 absence, which also was an independent marker of poor survival (HR = 1.79 [1.3, 2.8], p = 0.013). Conclusion In ALS patients, the absence of nigrosome 1 is associated with male sex, UMN impairment and shorter survival. This suggests that constitutional factors and the degree of pyramidal involvement are related to the substantia nigra involvement in ALS. Thus, nigrosome 1 could be a marker of a multisystem degeneration, which in turn associates to poor prognosis.

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“…Urologické obtíže (záněty močového měchýře, inkontinence, apod.) jsou u ALS časté, a pokud se objeví na začátku onemocnění, zhoršují její celkový průběh [57]. Gastrointestinální obtíže jsou spojeny se zhoršeným polykáním a s nedostatečným příjmem potravy.…”

Section: Symp Tomatická Terapieunclassified

New insights in the diagnosis and treatment of amyotrophic lateral sclerosis

̌Sťetkářová¹,

Matěj²,

Ehler³

2018

Cesk Slov Neurol N

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Nové poznatky v dia gnostice a léčbě amyotrofi cké laterální sklerózy New insights in the dia gnosis and treatment of amyotrophic lateral sclerosis Souhrn Amyotrofi cká laterální skleróza (ALS) patří mezi progredující neurodegeneativní onemocnění, jehož prevalence s věkem stoupá. Dochází k pozvolnému zániku periferních a centrálních motoneuronů a jejich drah s ušetřením extraokulárních a sfinkterových svalů. Rozlišuje se klasická forma ALS s postižením centrálního a periferního motoneuronu, a dále progresivní bulbární paralýza s postižením bulbárních svalů. Vzácnější jsou progresivní svalová atrofie s lézí pouze periferního motoneuronu a primární laterální skleróza s postižením pouze centrálního motoneuronu. Existují formy ALS sdružené s demencí (frontotemporální lobární demence [frontotemporal lobar dementia-motor neuron dis ease; FTLD-MND]), u kterých jsou přítomny poruchy chování, kognitivní dysfunkce a postižení exekutivních funkcí. Příčina nemoci zatím není objasněna. Jde o řetězec následných dějů, na jehož konci je programově řízená smrt buňky v selektivních subpopulacích neuronů. V práci je detailně popsán neuropatologický nález vč. podrobného molekulárně genetického rozboru u familiárních forem ALS. V současné době neexistuje specifi cký lék na toto onemocnění. Používá se neuroprotektivní léčba (např. riluzol a nově edaravon) s nejednoznačným efektem a léčba symp tomatická, která je určena k zvládání doprovodných projevů. Jednotlivé léčebné možnosti jsou podrobně rozebrány. AbstractAmyotrophic lateral sclerosis (ALS) is a progres sive neurodegenerative dis ease of increased prevalence with age. The main fi ndings are loss of peripheral and central motoneurons and their pathways with extraocular and sphincter muscle sparing. These are clas sical forms of ALS with loss of central and peripheral motoneurons, as well as progres sive bulbar paralysis with impairment of bulbar muscles. Progres sive muscle atrophy with only peripheral motoneuron lesions and primary lateral sclerosis with only central motoneuron involvement are rarely found. There are some forms of ALS as sociated with dementia (frontotemporal lobar dementia-motor neuron dis ease [FTLD-MND]) with behavioral changes, cognitive and executive dysfunction. The cause of ALS has not yet been elucidated. It is a chain of fol low-up events, at the end of which is cell death in selective subpopulations of neurons. In the present paper, we describe in detail the neuropathological fi ndings and molecular genetic analysis in familial forms of ALS. A specifi c drug for this dis ease is still unknown. Neuroprotective drugs (such as riluzole and recently edaravon) have an ambiguous eff ect. Symp tomatic treatment is designed to manage concomitant manifestations. Diff erent treatment options are discus sed in detail. Práce byla podpořena Výzkumným projektem Karlovy Univerzity Progres Q35.Autoři deklarují, že v souvislosti s předmětem studie nemají žádné komerční zájmy. The authors declare they have no potential confl icts of interest concerning drugs, products, ...

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Clinical profile of motor neuron disease patients with lower urinary tract symptoms and neurogenic bladder

Cited by 18 publications

References 28 publications

Presentation and Management Patterns of Lower Urinary Tract Symptoms in Adults Due to Rare Inherited Neuromuscular Diseases

Presentation and Management Patterns of Lower Urinary Tract Symptoms in Adults Due to Rare Inherited Neuromuscular Diseases

Role of the nigrosome 1 absence as a biomarker in amyotrophic lateral sclerosis

New insights in the diagnosis and treatment of amyotrophic lateral sclerosis

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Clinical profile of motor neuron disease patients with lower urinary tract symptoms and neurogenic bladder

Cited by 18 publications

References 28 publications

Presentation and Management Patterns of Lower Urinary Tract Symptoms in Adults Due to Rare Inherited Neuromuscular Diseases

Presentation and Management Patterns of Lower Urinary Tract Symptoms in Adults Due to Rare Inherited Neuromuscular Diseases

Role of the nigrosome 1 absence as a biomarker in amyotrophic lateral sclerosis

New insights in the dia­gnosis and treatment of amyotrophic lateral sclerosis

Contact Info

Product

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New insights in the diagnosis and treatment of amyotrophic lateral sclerosis