Loss of Dp140 regulatory sequences is associated with cognitive impairment in dystrophinopathies

Bardoni, Alessandra; Felisari, G.; Sironi, Manuela; Comi, Giacomo P.; Lai, Mónica; Robotti, M.; Bresolin, Nereo

doi:10.1016/s0960-8966(99)00108-x

Cited by 67 publications

(68 citation statements)

References 26 publications

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“…It is still unknown which molecules are targeted to the synapse by dystroglycan, which ligands are important, and if those molecules are directly responsible for the functional synaptic defect in brain-specific dystroglycan knock-out mice (46). It is tempting to speculate that the failure of recruiting functional molecules to the synapse by dystroglycan and dystrophin may in part underlie the cognitive impairment in FCMD, MEB, WWS, and a subset of dystrophin-associated muscular dystrophies (34,60).…”

Section: Insights Into Dystroglycan Function From Human Patients and mentioning

confidence: 99%

Dystrophin-Glycoprotein Complex: Post-translational Processing and Dystroglycan Function

Michele¹,

Campbell

2003

Journal of Biological Chemistry

405

325

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Section: Insights Into Dystroglycan Function From Human Patients and mentioning

confidence: 99%

Dystrophin-Glycoprotein Complex: Post-translational Processing and Dystroglycan Function

Michele¹,

Campbell

2003

Journal of Biological Chemistry

405

325

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“…Some research has suggested links between genotype and phenotype, and more difficulties appear to arise where the mutation on the dystrophin gene is distal, that is, after exon33 (Bushby et al 1995;Muntoni, Torelli & Ferlini 2003;Bardoni et al 2000).…”

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confidence: 99%

Improving the reading skills of young people with Duchenne muscular dystrophy in preparation for adulthood

Hoskin¹,

Fawcett²

2014

British J Special Edu

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Abstract:Duchenne muscular dystrophy (DMD) is a progressive genetic condition that affects both muscle and brain. Children with DMD are at risk of psycho-social difficulties such as poor academic achievement and behavioural and socio-emotional problems. This article by Janet Hoskin and Angela Fawcett, both from the University of Swansea, describes how 34 participants with DMD took part in a 36-week online literacy intervention which was delivered in partnership between home and school. The key objective was to improve reading skill. Participants were re-tested at 36 weeks for single word and text level reading, comprehension, fluency, processing and timed single word reading. Pre and post results indicated that children who followed the intervention for 36 weeks made significant improvement in their single word reading (p = <0.0001), timed single word reading (p = <0.0001) and text level reading (p = <0.004). They also made significant improvement in their fluency and comprehension scores. The results showed that children with DMD and related literacy difficulties benefit from a regular, structured and systematic synthetic phonics programme. With young people with DMD increasingly living into adulthood, early literacy intervention is particularly important to ensure optimum career and training opportunities.Duchenne muscular dystrophy (DMD) is a chronic and progressive muscle wasting individuals, there is an established prognosis for DMD due to the lack of the protein dystrophin being made condition, caused by a fault on the dystrophin gene, one of the largest genes in the human genome (Emery & Muntoni 2003). It is an X-chromosome linked disease and therefore overwhelmingly affects boys, one in 3,600 -6,000 male births (Drousiotou, Ioannou, Georgiou et al. 1998; Emery 1991). Although aspects of the condition can vary between which acts as a stabiliser in the muscle cells. Most children are diagnosed at around the age of five years (Bushby, Hill and Steel 1999) and without any intervention muscle deterioration results in lack of ambulation before they are teenagers with respiratory, cardiac and orthopaedic complications developing as they grow older. Without any treatment, the average age of death is around 19 years (Bushby et al 2010).However, more recently with the use of interventions over the past twenty years such as daily steroids, night ventilation, cardiac monitoring and spinal surgery to address scoliosis, life expectancy has increased to an average of 27 years (Eagle et al 2002;Eagle et al 2007). Since the publication of Eagle's research in 2007, there are now teenagers with DMD who have been using daily steroids from a much earlier age and so it might be expected that with these treatments available, young people with DMD could be living into their third decade and beyond. In Denmark, where those with DMD use steroids and ventilation in an optimal coordinated care programme, there are now more adults than children with the condition, and some are living into their third and fourth decades (Jeppeson ...

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“…A etiologia precisa do comprometimento mental nos meninos com DMD ainda permanece pouco clara, mas os trabalhos têm evidenciado sua correlação com alterações genéticas específicas (al-Qudah et al, 1990;Rapaport et al, 1991;Moizard et al, 1998Moizard et al, e 2000Bardoni et al, 2000;Felisari et al, 2000). Muitos trabalhos descrevem que o atraso no desenvolvimento neuropsicomotor e a deficiência mental estão preferencialmente associados a alterações genéticas afetando o terço final do gene Xp21, justamente o local de codificação para as proteínas truncadas (Rapaport et al, 1991;Hodgson et al, 1992;Bushby et al, 1992e 1995, Giliberto et al, 2004.…”

Section: Bases Neurais Do Comprometimento Cognitivo Na Distrofia Muscunclassified

“…Trabalhos posteriores encontraram incidência um pouco inferior da mesma correlação genética (Nicholson et al 1993, Bushby et al, 1995. No caso, a deleção no exon 52 parece interromper a seqüência de codificação de uma das isoformas da distrofina expressas no cérebro que tem espacial correlação com o comprometimento cognitivo nos pacientes com DMD, a Dp140 (Moizard et al, 1998;Bardoni et al, 2000).…”

Section: Florencia E Colaboradores (2004) Observaram Que Deleções Em unclassified

“…Já foi bem estabelecido na literatura que aproximadamente 30% dos indivíduos apresentam deficiência mental (DM), determinado pelo QI abaixo de 70 (Yoshioka, 1980;Bushby, 1992;Nicholson et al, 1993;Bardoni et al, 2000;Blake e Kröger, 2000), sendo esta uma incidência muito maior do que a observada na população normal (aproximadamente 2%) (Poysky, 2007 (Poysky, 2007). Na mesma linha, outros trabalhos têm tentado caracterizar mais precisamente os déficits cognitivos que estariam levando ao prejuízo da inteligência dos pacientes demonstrado pelos testes de QI.…”

Section: Alterações Cognitivas Evidenciadas Na Distrofia Muscular De unclassified

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Alterações atencionais na distrofia muscular de duchenne

Moura¹

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Loss of Dp140 regulatory sequences is associated with cognitive impairment in dystrophinopathies

Cited by 67 publications

References 26 publications

Dystrophin-Glycoprotein Complex: Post-translational Processing and Dystroglycan Function

Dystrophin-Glycoprotein Complex: Post-translational Processing and Dystroglycan Function

Improving the reading skills of young people with Duchenne muscular dystrophy in preparation for adulthood

Alterações atencionais na distrofia muscular de duchenne

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