Neuromuscular Abnormalities in Ataxia Telangiectasia: A Clinical, Electrophysiological and Muscle Ultrasound Study

Verhagen, Mijke M.M.; Alfen, Nens van; Pillen, Sigrid; Weemaes, C.M.R.; Yntema, J.L.; Hiel, J.A.P.; Laak, H.J. ter; Deuren, Marcel van; Broeks, Annegien; Willemsen, M.A.A.P.

doi:10.1055/s-2007-985899

Cited by 17 publications

(21 citation statements)

References 9 publications

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“…The neurological phenotype in patients without residual ATM kinase activity was in line with that reported in the literature for classical A-T patients [Sedgwick and Boder, 1991;Verhagen et al, 2007;Woods and Taylor, 1992]. Interestingly, cerebellar ataxia was not the dominating manifestation and sometimes even absent in patients with some residual ATM kinase activity.…”

Section: Discussionsupporting

confidence: 87%

Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia-telangiectasia: A genotype-phenotype study

Hogervorst²,

et al. 2012

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Ataxia-telangiectasia (A-T) is an autosomal recessive neurodegenerative disorder with multisystem involvement and cancer predisposition, caused by mutations in the A-T mutated (ATM) gene. To study genotype-phenotype correlations, we evaluated the clinical and laboratory data of 51 genetically proven A-T patients, and additionally measured ATM protein expression and kinase activity. Patients without ATM kinase activity showed the classical phenotype. The presence of ATM protein, correlated with slightly better immunological function. Residual kinase activity correlated with a milder and essentially different neurological phenotype, absence of telangiectasia, normal endocrine and pulmonary function, normal immunoglobulins, significantly lower X-ray hypersensitivity in lymphocytes, and extended lifespan. In these patients, cancer occurred later in life and generally consisted of solid instead of lymphoid malignancies. The genotypes of severely affected patients generally included truncating mutations resulting in total absence of ATM kinase activity, while patients with milder phenotypes harbored at least one missense or splice site mutation resulting in expression of ATM with some kinase activity. Overall, the phenotypic manifestations in A-T show a continuous spectrum from severe classical childhood-onset A-T to a relatively mild adult-onset disorder, depending on the presence of ATM protein and kinase activity. Each patient is left with a tremendously increased cancer risk.

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Section: Discussionsupporting

confidence: 87%

Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia-telangiectasia: A genotype-phenotype study

Hogervorst²,

et al. 2012

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“…23 Cerebral imaging studies were available for 4 patients (c1-c3, c6) and demonstrated cerebellar atrophy without other abnormalities. 23 Cerebral imaging studies were available for 4 patients (c1-c3, c6) and demonstrated cerebellar atrophy without other abnormalities.…”

Section: Features and Results Of Atm Mutation Analyses Of 6 Patients mentioning

confidence: 99%

Clinical spectrum of ataxia-telangiectasia in adulthood

et al. 2009

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Ataxia-telangiectasia (A-T) should be considered in patients with unexplained extrapyramidal symptoms. Early diagnosis is important given the increased risk of malignancies and the higher risk for side effects of subsequent cancer treatment. Measurement of serum alpha-fetoprotein and chromosomal instability precipitates the correct diagnosis. There is a clear genotype-phenotype relation for A-T, since the severity of the phenotype depends on the amount of residual kinase activity as determined by the genotype.

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“…Nesta pesquisa observou-se uma maior espessura muscular dos músculos temporais e masseteres durante as condições clínicas de repouso e máxima intercuspidação habitual, resultados concordes com os realizados por Verhagen et al, [5] que cita haver um aumento no tecido muscular em pacientes com ataxia e relata que há um aumento da intensidade do eco da imagem desses pacientes que são condizentes com possíveis alterações na atividade muscular. Entretanto não foram encontrados estudos que realizaram a avaliação no sistema estomatognático ou que realizassem a comparação do tamanho do tecido muscular dos pacientes com ataxia.…”

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“…Os pacientes com ataxia apresentaram uma redução da força muscular, dados estes que são concordes a Verhagen et al, [5] que observaram em pacientes com ataxia quadros de atrofias musculares, fibroses e redução da condução nervosa nos membros superiores e inferiores, que concomitantemente gera uma redução da força muscular, principalmente em pacientes com um tempo maior da doença.…”

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Análise Da Espessura Muscular E Força De Mordida Molar Máxima Em Indivíduos Com Ataxia – Resultados Parciais

Ferreira¹,

Arnoni²,

Silva³

et al. 2018

Anais Do v Congresso Brasileiro De Eletromiografia E Cinesiologia E X Simpósio De Engenharia Biomédica

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Resumo: Dentre os sintomas que os indivíduos com lesão cerebelar apresentam, as ataxias são foco principal de estudos. Esta pesquisa tem por objetivo avaliar a espessura muscular e a força de mordida molar máxima em indivíduos com ataxia e compará-los com indivíduos saudáveis. Foram selecionados 16 indivíduos com idade entre 20 a 60 anos de ambos os gêneros que foram divididos em dois grupos (G1 -Ataxia e G2 -Controle). Os participantes foram submetidos a análise da espessura muscular e força de mordida molar máxima.Os resultados foram analisados estatisticamente pelo SPSS versão 21.0 por intermédio do teste estatístico "teste t para amostras independentes". Na avaliação ultrassonográfica verificou-se que na condição clínica de repouso e de máxima intercuspidação habitual, os indivíduos com ataxia apresentaram um aumento da espessura muscular, valores foram estatisticamente significantes para os músculos temporais na condição clínica de repouso (p≤0,05). Na avaliação da força muscular, os indivíduos com ataxia apresentaram menor força muscular em ambas as hemifaces avaliadas, valores estatisticamente não significantes (p≤0,05). Desta forma, neste estudo pode-se concluir que os indivíduos com ataxia apresentam aumento da espessura muscular em todos os músculos avaliados e redução da força muscular molar máxima. Palavras-chave: Ultrassonográfia, Força de mordida molar máxima, Sistema Estomatognático. Abstract: Among the symptoms that individuals with cerebellar lesion present, ataxias are the main focus of studies. This study aims to assess muscle thickness and maximal molar bite force in individuals with ataxia and compare them with healthy individuals. Sixteen individuals aged 20 to 60 years old were selected from both genders, who were divided into two groups (G1 -Ataxia and G2 -Control

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Neuromuscular Abnormalities in Ataxia Telangiectasia: A Clinical, Electrophysiological and Muscle Ultrasound Study

Cited by 17 publications

References 9 publications

Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia-telangiectasia: A genotype-phenotype study

Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia-telangiectasia: A genotype-phenotype study

Clinical spectrum of ataxia-telangiectasia in adulthood

Análise Da Espessura Muscular E Força De Mordida Molar Máxima Em Indivíduos Com Ataxia – Resultados Parciais

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