Dystrophin-glycoproteins associated in congenital muscular dystrophy: immunohistochemical analysis of 59 Brazilian cases

Ferreira, Luciana Garros; Marie, Suely Kazue Nagahashi; Liu, Enna Cristina; Resende, Maria Bernadete Dutra de; Carvalho, Mary S.; Scaff, Milberto; Reed, Umbertina Conti

doi:10.1590/s0004-282x2005000500014

Cited by 9 publications

(9 citation statements)

References 40 publications

(24 reference statements)

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“…Its expression influences the peripheral myelinogenesis 83 . however, peripheral motor nerves involvement has not been found in Brazilian children with MDC 1A 84,85 and this fact might be due to the type and location of the mutation 84 .…”

Section: Merosin-deficient Congenital Muscular Dystrophy: Mdc1amentioning

confidence: 89%

Congenital muscular dystrophy. Part II: a review of pathogenesis and therapeutic perspectives

Reed

2009

Arq. Neuro-Psiquiatr.

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-The congenital muscular dystrophies (CMDs) are a group of genetically and clinically heterogeneous hereditary myopathies with preferentially autosomal recessive inheritance, that are characterized by congenital hypotonia, delayed motor development and early onset of progressive muscle weakness associated with dystrophic pattern on muscle biopsy. The clinical course is broadly variable and can comprise the involvement of the brain and eyes. From 1994, a great development in the knowledge of the molecular basis has occurred and the classification of CMDs has to be continuously up dated. In the last number of this journal, we presented the main clinical and diagnostic data concerning the different subtypes of CMD. In this second part of the review, we analyse the main reports from the literature concerning the pathogenesis and the therapeutic perspectives of the most common subtypes of CMD: MDC1A with merosin deficiency, collagen VI related CMDs (Ullrich and Bethlem), CMDs with abnormal glycosylation of alpha-dystroglycan (Fukuyama CMD, Muscleeye-brain disease, Walker Warburg syndrome, MDC1C, MDC1D), and rigid spine syndrome, another much rare subtype of CMDs not related with the dystrophin/glycoproteins/extracellular matrix complex.Key WorDs: congenital muscular dystrophy, MDC1A, collagen VI related disorders, glycosylation of alphadystroglycan, Fukuyama DMC, muscle-eye-brain (MeB) disease, Walker-Warburg syndrome, rigid spine syndrome. distrofia muscular congênita. parte ii: revisão da patogênese e perspectivas terapêuticas resumo -As distrofias musculares congênitas (DMCs) são miopatias hereditárias geralmente, porém não exclusivamente, de herança autossômica recessiva, que apresentam grande heterogeneidade genética e clínica. são caracterizadas por hipotonia muscular congênita, atraso do desenvolvimento motor e fraqueza muscular de início precoce associada a padrão distrófico na biópsia muscular. o quadro clínico, de gravidade variável, pode também incluir anormalidades oculares e do sistema nervoso central. A partir de 1994, os conhecimentos sobre genética e biologia molecular das DMCs progrediram rapidamente, sendo a classificação continuamente atualizada. os aspectos clínicos e diagnósticos dos principais subtipos de DMC foram apresentados no número anterior deste periódico, como primeira parte desta revisão. Nesta segunda parte apresentaremos os principais mecanismos patogênicos e as perspectivas terapêuticas dos subtipos mais comuns de DMC: DMC tipo 1A com deficiência de merosina, DMCs relacionadas com alterações do colágeno VI (Ullrich e Bethlem), e DMCs com anormalidades de glicosilação da alfa-distroglicana (DMC Fukuyama, DMC "Muscle-eye-brain" ou MeB, síndrome de Walker Warburg, DMC tipo 1C, DMC tipo 1D). A DMC com espinha rígida, mais rara e não relacionada com alterações do complexo distrofina-glicoproteínas associadas-matriz extracelular também será abordada quanto aos mesmos aspectos patogênicos e terapêuticos.PAlAVrAs-ChAVes: distrofia muscular congênita, merosina, colágeno VI, glicosila...

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Section: Merosin-deficient Congenital Muscular Dystrophy: Mdc1amentioning

confidence: 89%

Congenital muscular dystrophy. Part II: a review of pathogenesis and therapeutic perspectives

Reed

2009

Arq. Neuro-Psiquiatr.

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“…Early studies suggested that laminin ␣2 abnormalities accounted for 40% of all CMD cases in France and the United Kingdom, 42 but the frequency is now known to have regional variability. 43 Even so, abnormal laminin ␣2 is still often cited to be the most common single form of CMD. 7,8,18 Previous studies have shown altered ␣7-integrin expression in patients with CMD.…”

Section: Collagen VI Abnormalitiesmentioning

confidence: 99%

Diagnosis and etiology of congenital muscular dystrophy

Peat¹,

Smith²,

Compton³

et al. 2008

Neurology

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Objective: We aimed to determine the frequency of all known forms of congenital muscular dystrophy (CMD) in a large Australasian cohort. Methods:We screened 101 patients with CMD with a combination of immunofluorescence, Western blotting, and DNA sequencing to identify disease-associated abnormalities in glycosylated ␣-dystroglycan, collagen VI, laminin ␣2, ␣7-integrin, and selenoprotein.Results: A total of 45% of the CMD cohort were assigned to an immunofluorescent subgroup based on their abnormal staining pattern. Abnormal staining for glycosylated ␣-dystroglycan was present in 25% of patients, and approximately half of these had reduced glycosylated ␣-dystroglycan by Western blot. Sequencing of the FKRP, fukutin, POMGnT1, and POMT1 genes in all patients with abnormal ␣-dystroglycan immunofluorescence identified mutations in one patient for each of these genes and two patients had mutations in POMT2. Twelve percent of patients had abnormalities in collagen VI immunofluorescence, and we identified disease-causing COL6 mutations in eight of nine patients in whom the genes were sequenced. Laminin ␣2 deficiency accounted for only 8% of CMD. ␣7-Integrin staining was absent in 12 of 45 patients studied, and ITGA7 gene mutations were excluded in all of these patients. LGMD2I ϭ limb-girdle muscular dystrophy type 2I; MDC1C ϭ congenital muscular dystrophy type 1C; MEB ϭ muscle-eyebrain disease; PVDF ϭ polyvinylidene fluoride; SSCP ϭ single strand conformational polymorphism; UCMD ϭ Ullrich congenital muscular dystrophy; WWS ϭ Walker-Warburg syndrome. Conclusions:

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“…A Brazilian study diagnosed merosin-deficiency in around 40% of CMD patients (Ferreira, Marie et al 2005), while this diagnosis accounted for only 8% of CMD patients in an Australian study (Peat, Smith et al 2008). Differences in CMD ascertainment criteria may be partly responsible but it is likely there are true differences in disease incidence in different populations.…”

Section: Frequency Of Diagnosis Of Less Common Types Of MDmentioning

confidence: 99%

“…Differences in CMD ascertainment criteria may be partly responsible but it is likely there are true differences in disease incidence in different populations. Similarly, different rates of collagen VI diagnoses have been observed, ranging from 8% in Australia (Peat, Smith et al 2008) to 1.7% in Brazil (Ferreira, Marie et al 2005). …”

Section: Frequency Of Diagnosis Of Less Common Types Of MDmentioning

confidence: 99%