Incidence of Spinal Muscular Atrophy in Poland – More Frequent than Predicted?

Jędrzejowska, Maria; Milewski, Michał; Zimowski, Janusz; Zagożdżon, Paweł; Kostera‐Pruszczyk, Anna; Borkowska, Julita; Sielska, Danuta; Jurek, Marta; Hausmanowa-Pétrusewicz, I

doi:10.1159/000275492

Cited by 40 publications

(29 citation statements)

References 63 publications

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“…Next, we screened 150 nonconsanguineous, healthy, normal individuals with no known family history of genetic or neuromuscular disease and found 4 individuals with a single SMN1 gene, resulting in a carrier frequency of 2.7% (1/37) for the tested population. This frequency is similar to populations in North Dakota (1/41) [23] , Philadelphia (1/40) [24] , Poland and Germany (1/35) [3,4] and France (1/34) [5] , and probably reflects the European origin of the population tested. This is the first report of SMA carrier frequency in a nonconsanguineous Brazilian population, and will help with genetic counseling for SMA.…”

Section: Discussionsupporting

confidence: 71%

“…SMA affects approximately 1/6,000 to 1/10,000 live births [1][2][3] with a carrier frequency of 1/35 to 1/50 [3][4][5][6] . The disease is characterized by progressive muscle weakness and atrophy due to degeneration of motor neurons in the anterior horn of the spinal cord.…”

Section: Introductionmentioning

confidence: 99%

“…Reports of carrier frequencies in populations vary: there are low frequencies in African Americans (1/91) [14] and in the geographic regions of Spain (1/125) [14] , Northeast England (1/80) [16] , Warsaw (1/70) [17] , South China (1/63) [18] and Israel (1/62) [19] ; intermediate frequencies in Ashkenazi Jews (1/46), Caucasians (1/37) [14] , Chinese (1/42) [20] and in the regions of Italy (1/57) [21] , Asia (1/56) [14] , Korea (1/47-1/50) [6,22] , North Dakota (1/41) [23] , Philadelphia (1/40) [24] , Poland and Germany (1/35) [3,4] , and France (1/34) [5] ; and high frequencies in Saudi Arabia and Iran (1/20) [25,26] .…”

Section: Introductionmentioning

confidence: 99%

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Detection of Spinal Muscular Atrophy Carriers in a Sample of the Brazilian Population

Bueno¹,

Gouvea²,

Genari³

et al. 2011

Neuroepidemiology

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Background: Spinal muscular atrophy is a common autosomal recessive neuromuscular disorder caused by mutations in the SMN1 gene. Identification of spinal muscular atrophy carriers has important implications for individuals with a family history of the disorder and for genetic counseling. The aim of this study was to determine the frequency of carriers in a sample of the nonconsanguineous Brazilian population by denaturing high-performance liquid chromatography (DHPLC). Methods: To validate the method, we initially determined the relative quantification of DHPLC in 28 affected patients (DHPLC values: 0.00) and 65 parents (DHPLC values: 0.49–0.69). Following quantification, we studied 150 unrelated nonconsanguineous healthy individuals from the general population. Results: Four of the 150 healthy individuals tested (with no family history of a neuromuscular disorder) presented a DHPLC value in the range of heterozygous carriers (0.6–0.68). Conclusions: Based on these results, we estimated there is a carrier frequency of 2.7% in the nonconsanguineous Brazilian population, which is very similar to other areas of the world where consanguineous marriage is not common. This should be considered in the process of genetic counseling and risk calculations.

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Section: Discussionsupporting

confidence: 71%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Detection of Spinal Muscular Atrophy Carriers in a Sample of the Brazilian Population

Bueno¹,

Gouvea²,

Genari³

et al. 2011

Neuroepidemiology

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“…Wilson and Ogino projected an incidence of 1 per 6000 live births (~16.7 per 100,000 live births) from a carrier frequency estimate and a summary incidence of 9.7–10.1 per 100,000 live births, estimated from 15 studies of clinically diagnosed cases observed between 1960 and 1996 [15, 18]. Similarly, Jedrzejowska et al observed in Poland a birth incidence of 1 per 9749 births (10.3 per 100,000 live births) but projects an incidence of 1 per 4900 live births (20.4 per 100,000 live births) from carrier frequencies [14]. There are several reasons that could cause differences between population-based incidence and incidence projected from carrier frequencies.…”

Section: Discussionmentioning

confidence: 99%

A multi-source approach to determine SMA incidence and research ready population

et al. 2017

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In spinal muscular atrophy (SMA), degeneration of motor neurons causes progressive muscular weakness, which is caused by homozygous deletion of the SMN1 gene. Available epidemiological data on SMA are scarce, often outdated, and limited to relatively small regions or populations. Combining data from different sources including genetic laboratories and patient registries may provide better insight of the disease epidemiology. To investigate the incidence of genetically confirmed SMA, and the number of patients who are able and approachable to participate in new clinical trials and observational research, we used both genetic laboratories, the TREAT-NMD Global SMA Patient Registry and the Care and Trial Sites Registry (CTSR). In Europe, 4653 patients were genetically diagnosed by the genetic laboratories in the 5-year period 2011 to 2015, with 992 diagnosed in 2015 alone. The data provide an estimated incidence of SMA in Europe of 1 in 3900–16,000 live births. Patient numbers in the national patient registries and CTSR were considerably lower. By far, most patients registered in the national patient registries and the CTSR live in Europe and are reported to have SMA type II. Considerable differences between countries in patient participation in the registries were observed. Our findings indicate that not all patients with SMA are accessed by specialist healthcare services and these patients may not have access to research opportunities and optimal care.Electronic supplementary materialThe online version of this article (doi:10.1007/s00415-017-8549-1) contains supplementary material, which is available to authorized users.

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“…W Polsce w tym okresie zdiagnozowano 240 przypadków SMA (w samym 2015 roku-54 chorych), co odpowiada częstości zachorowania około 1: 8300 urodzeń (12: 10 5 ). Polskie badania zakończone w 2010 roku wskazywały na częstość nosicielstwa 1:35 oraz zachorowalność 1: 9320 w skali kraju i 1 na 7127 w Warszawie, co sugerowało że część pacjentów wciąż pozostaje bez właściwej diagnozy [9].…”

Section: Epidemiologiaunclassified

Spinal muscular atrophy – novel therapies, new challenges

Jędrzejowska¹,

Kostera‐Pruszczyk²

2017

Child Neurology

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STRESZCZENIERdzeniowy zanik mięśni jest postępującą chorobą neurodegeneracyjną, w przebiegu której dochodzi do utraty motoneuronów rdzenia kręgowego, a w konsekwencji osłabienia i zaniku mięśni. Choroba charakteryzuje się bardzo dużą zmiennością przebiegu klinicznego -od letalnej formy wrodzonej po postać dorosłą, o średniej przeżycia jak w populacji ogólnej. Choroba związana jest z mutacjami genu SMN1. Liczba kopii bliźniaczo podobnego genu SMN2 warunkuje nasilenie objawów klinicznych. Analizy ostatnich lat zaowocowały weryfikacją aktualnej klasyfikacji, poprawą standardów opieki, poznaniem przebiegu historii naturalnej choroby. W zderzeniu z nowymi badaniami nad podłożem molekularnym i patogenezą choroby możliwe stało się podjęcie prób terapeutycznych. Badania kliniczne wykazały skuteczność nusinersenu (anysensowny oligonukleotyd), i doprowadziły do rejestracji leku do leczenia SMA. Najlepsze efekty uzyskano u pacjentów, u których włączono leczenie w okresie przedobjawowym. Trwają badania nad kolejnymi substancjami, których działanie oparte jest o różnorodne strategie-począwszy od terapii genowej (AVXS101), przez mikromolekuły modyfikujące składanie pre-mRNA SMN2 (LMI070, RG7916), po neuroprotektory (Olesoxime) i wiele innych. W pracy dokonujemy przeglądu najnowszych danych dotyczą-cych klasyfikacji, historii naturalnej, standardów opieki i prób terapeutycznych. Wczesne rozpoznanie i leczenie może zmienić historię naturalną choroby. Dlatego tak ważne wydaje się wczesne rozpoznanie, a w przyszłości być może wprowadzenie skriningu noworodkowego. Słowa kluczowe: SMA 5q, białko SMN, terapia. ABSTRACTSpinal muscle atrophy (SMA) is a progressive neurodegenerative disease that results in the loss of motoneurons in the spinal cord and, consequently, in muscle weakness and atrophy. The disease is characterized by high variability of the clinical course -from the early neonatal form to the adult form, with the average survival as in the general population. The disease is caused by mutations in the SMN1 gene. The number of copies of a similar SMN2 gene determines the severity of clinical symptoms. Recent analyzes allowed to verify current classification, improve care standards, learn the natural history of SMA. Clinical studies showed the efficacy of nusinersen (an antysense oligonucleotide) and led to the registration of the drug for SMA treatment. The best results were seen in presymptomatic patients. Research is underway on substances that are based on a variety of strategies, from gene therapy (AVXS101) to SMN2 pre-mRNA modulation micronucleus (LMI070, RG7916) to neuroprotectants (Olesoxime) and many others. We review the latest data on classification, natural history, care standards and therapeutic trials. Early diagnosis and treatment can change the natural history of the disease. That is why it is so important to have an early diagnosis and, perhaps, a neonatal screening in the future.

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Incidence of Spinal Muscular Atrophy in Poland – More Frequent than Predicted?

Cited by 40 publications

References 63 publications

Detection of Spinal Muscular Atrophy Carriers in a Sample of the Brazilian Population

Detection of Spinal Muscular Atrophy Carriers in a Sample of the Brazilian Population

A multi-source approach to determine SMA incidence and research ready population

Spinal muscular atrophy – novel therapies, new challenges

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