Central nervous system involvement in progressive muscular dystrophy.

Yoshioka, Mieko; Okuno, Takehiko; Honda, Yoshio; Nakano, Yujiro

doi:10.1136/adc.55.8.589

Cited by 88 publications

(50 citation statements)

References 12 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Yoshioka et al studied 30 DMD patients and found slight cortical atrophy in 67% of them, slight ventricular dilation (i.e., enlargement of inter-hemispheric cisterns and sulci of 3-5 mm) in 60%, and cortical atrophy in 30%, although clear signs of atrophy were only observed in older and more physically disabled patients (30). However the brain autopsy results, and more recently the brain imaging results, on DMD patients have not been consistent (31).…”

Section: Discussionmentioning

confidence: 99%

Diffusion tensor imaging study in Duchenne muscular dystrophy

Fu¹,

Dong²,

Zhang³

et al. 2016

Ann. Transl. Med.

View full text Add to dashboard Cite

Background: Duchenne muscular dystrophy (DMD) is a progressive muscle disorder associated with an intellectual deficit which is non-progressive. The aim of this study was to investigate brain microstructural changes in DMD and to explore the relationship between such changes and cognitive impairment.Methods: All participants (12 DMD patients, 14 age-matched healthy boys), intelligence quotients (IQs) [both full (FIQ) and verbal (VIQ)] were evaluated using the Wechsler intelligence scale for children China revised (WISC-CR) edition, and brain gray matter (GM) and white matter (WM) changes were mapped using diffusion tensor imaging (DTI) with fractional anisotropy (FA). The differences between groups were analyzed using the t-test and the association of cognition with neuroimaging parameters was evaluated using Pearson's correlation coefficient. Conclusions: There were microstructural changes of splenium of CC in DMD patients, which was associated with cognitive impairment.

show abstract

Section: Discussionmentioning

confidence: 99%

Diffusion tensor imaging study in Duchenne muscular dystrophy

Fu¹,

Dong²,

Zhang³

et al. 2016

Ann. Transl. Med.

View full text Add to dashboard Cite

show abstract

“…On CT scan, brains of boys with DMD show mild cerebral atrophy (Echenne et al, 1998;Septien et al, 1991;Yoshioka et al, 1980). Abnormal EEGs have been recorded in some, but not all patients tested (Kozicka et al, 1971).…”

Section: Introductionmentioning

confidence: 99%

Selective deficits in verbal working memory associated with a known genetic etiology: The neuropsychological profile of Duchenne muscular dystrophy

Hinton

Vivo

Nereo

et al. 2001

J Int Neuropsychol Soc

108

100

View full text Add to dashboard Cite

Forty-one boys diagnosed with Duchenne muscular dystrophy (DMD) were each compared to an unaffected sibling on a battery of neuropsychological tests. Verbal, visuospatial, attention/memory, abstract thinking, and academic achievement skills were tested. Results indicated the boys with DMD performed similarly to their siblings on the majority of measures, indicating intact verbal, visuospatial, long-term memory, and abstract skills. However, the DMD group did significantly more poorly than their siblings on specific measures of story recall, digit span, and auditory comprehension, as well as in all areas of academic achievement (reading, writing, and math). This profile indicates that verbal working memory skills are selectively impaired in DMD, and that that likely contributes to limited academic achievement. The association between the known impact of the genetic mutation on the development of the central nervous system and boys' cognitive profile is discussed.

show abstract

“…A rupture in the link among DGC proteins occur in the dystrophinopathies (DMDuchenne/Becker), resulting in sarcolemma instability and secondary lesion from muscle contraction 11 . A wide range of abnormalities have been found in 30 cases of DMD patients' brains assessed by Yoshioka 12 : subtle brain atrophy, mild dilated ventriculum and cortical atrophy in and others 13,9 . In another study, an increased incidence of neuronal loss and gliosis, as well as, abnormal dendritic branching and arborization of cortical piramidal neuron was found 14 .…”

mentioning

confidence: 99%

Duchenne muscular dystrophy: alpha-dystroglycan immunoexpression in skeletal muscle and cognitive performance

Pereira

Kiyomoto

Cardoso³

et al. 2005

Arq. Neuro-Psiquiatr.

View full text Add to dashboard Cite

-The Duchenne muscular systrophy (DMD) is a muscular dystrophy with cognitive impairment present in 20-30% of the cases. In the present study, in order to study the relationship between the α-dystroglycan (α-DG) immunostaining in skeletal muscle and cognitive performance in DMD patients, 19 were assessed. Twelve patients performed the intelligence quotient (IQ) below the average. Among the 19 patients, two were assessed by the Stanford-Binet test and 17 by Wechsler Intelligence Scale for Children-III (WISC-III). Nine patients performed a verbal IQ below the average, only three patients performed an average verbal IQ. The muscle biopsies immunostained with antibodies to α-DG showed that 17 patients presented a low expression, below 25% of the total fibers. Two patients presented α-DG immunostaining above 40% and an IQ within the average. No significant statistical relationship was demonstrated among total IQ, verbal IQ and execution IQ and α-DG immunostaining at these patients muscle samples.KEY WORDS: Duchenne muscular dystrophy, α-dystroglycan, cognitive impairment, dystrophin. Distrofia muscular de Duchenne: imunoexpressão da α-distroglicana em musculatura esqueléti-ca e performance cognitivaRESUMO -A distrofia muscular de Duchenne (DMD) é uma distrofia muscular com comprometimento cognitivo presente em 20-30% dos casos. No presente estudo, com a finalidade de estudar a relação entre a imunoexpressão da α-distroglicana (α-DG) em musculatura esquelética e a performance cognitiva em pacientes com DMD, foram avaliadas 19 crianças. Doze pacientes apresentaram o quociente de inteligência (QI) abaixo da média. Entre os 19 pacientes, dois foram avaliados pelo teste de Stanford-Binet e 17 pelo Wechsler Intelligence Scale para crianças-III (WISC-III). Nove apresentaram QI verbal abaixo da média, e apenas três QI verbal na média. As biopsias musculares com os anticorpos para α-DG mostraram que 17 pacientes apresentaram baixa expressão, abaixo de 25% do total de fibras. Dois pacientes apresentaram a imunoexpressão da α-DG acima de 40% e QI dentro da média. Não foi demonstrada relação estatisticamente significante entre o QI total, QI verbal e QI de execução e a imunoexpressão da α-DG . PALAVRAS-CHAVE: distrofia muscular de Duchenne, α-distroglicana, déficit cognitivo, distrofina.The Duchenne muscular dystrophy (DMD) is defined as an X linked recessive disorder, and the main features being progressive muscular weakness related to dystrophin protein deficiency in the skeletal muscle 1 . There is a wide range of symptoms in DMD, which delay diagnosis, because the initial observations are non-specific and the age when boys present the first symptoms is variable 2 . In the majority of boys, the common symptoms begin, before four years old, and are commonly characterized by abnormal gait, walking with difficulty and frequent fall overs. Other symptoms include delays in motor milestones and awkward gait 1 . The DMD is characterized by the absence of dystrophin the skeletal muscle 3 . The dystrophin is a protein that is...

show abstract

Central nervous system involvement in progressive muscular dystrophy.

Cited by 88 publications

References 12 publications

Diffusion tensor imaging study in Duchenne muscular dystrophy

Diffusion tensor imaging study in Duchenne muscular dystrophy

Selective deficits in verbal working memory associated with a known genetic etiology: The neuropsychological profile of Duchenne muscular dystrophy

Duchenne muscular dystrophy: alpha-dystroglycan immunoexpression in skeletal muscle and cognitive performance

Contact Info

Product

Resources

About