Mental Deficiency Associated With Muscular Dystrophy

Rosman, N. Paul; Kakulas, B. A.

doi:10.1093/brain/89.4.769

Cited by 162 publications

(49 citation statements)

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“…Brain autopsy studies have found a range of abnormalities in the brains of DMD patients, including pathological findings of neuronal loss, heterotopias, gliosis, neurofibrillary tangles, Purkinje cell loss, dendritic abnormalities (length, branching and intersections), disordered architecture, astrocytosis, and perinuclear vacuolation (26)(27)(28)(29). 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).…”

Section: Discussionmentioning

confidence: 99%

Diffusion tensor imaging study in Duchenne muscular dystrophy

Fu¹,

Dong²,

Zhang³

et al. 2016

Ann. Transl. Med.

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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.

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Section: Discussionmentioning

confidence: 99%

Diffusion tensor imaging study in Duchenne muscular dystrophy

Fu¹,

Dong²,

Zhang³

et al. 2016

Ann. Transl. Med.

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“…Rosman et Kakulas 14 argued about the possible reasons of the social isolation. The psychosocial limitations faced by the patients, consequence of preconceptions and social barriers, would cause isolation and low productivity.…”

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confidence: 99%

The Kohs' blocks test as an important instrument to investigate the visuo-spatial impairments in myotonic dystrophy: part I. Quantitative and qualitative analysis

Wigg

Duro²

1999

Arq. Neuro-Psiquiatr.

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-This study presents the performance of 39 cases of myotonic dystrophy on Kohs' blocks test (21 females and 18 males, age range from 9 to 70 years). On this test, the patients have to reproduce figures from models previously showed to them. Some of the patients had some kind of professional activity, while others had never exerted a professional occupation. The patients denoted considerable difficulty to perform the test. Some cases constructed entirely different figures in comparison to the presented drawings, translating visuo-spatial and constructional disabilities. The performance was insufficient in 71.4 % of the cases. These cases solved less than 50% of the test. The levels of analysis and synthesis were severely impaired. A total of 18 cases got less than 10 points, not reaching 20% of the test. The results showed the sensitivity of this test in detecting visuo-spatial impairment in myotonic dystrophy.KEY WORDS: myotonic dystrophy, psychological tests, Kohs' blocks.O teste dos cubos de Kohs como importante instrumento para investigar as alterações visuo-espaciais da distrofia miotônica: I. Análise quantitativa e qualitativa RESUMO -Foram avaliados 39 casos de distrofia miotônica a partir do desempenho no teste dos cubos de Kohs. Havia 21 casos femininos e 18 masculinos, idade variando de 9 a 70 anos e diferentes níveis educacionais (do primário ao superior). Alguns encontravam-se ativos profissionalmente, enquanto outros nunca exerceram uma ocupação profissional. Os pacientes denotaram considerável dificuldade na execução deste teste que é instrumento que se apresenta fundamentalmente por reprodução de figuras. Houve casos que construíram figuras com formas bem diferentes dos desenhos apresentados. O desempenho foi insuficiente em 71,4 % dos casos, os quais não conseguiram resolver 50% do teste. Muitas das reproduções fugiram ao padrão correto, traduzindo comprometimento visuo-espacial pela grave distorção em comparação com a figura modelo. Os níveis de análise e síntese estavam comprometidos de forma importante. Dentre os pacientes, 18 casos não alcançaram os 10 pontos, dos 133 possíveis, não realizando sequer 20% do teste. Os resultados comprovaram a sensibilidade deste teste em detectar comprometimento visuo-espacial na distrofia miotônica. PALAVRAS-CHAVES: distrofia miotônica, testes psicológicos, cubos de Kohs, alterações visuo-espaciais.

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“…The neuropathology in the adult form is characterized with pachygyria, neuronal heterotypia, intracytoplasmic inclusion bodies and neurofibrillar tangles (28,29,30,31). In two studies focusing on lobar white matter lesions, myelin loss where axons were relatively protected, increased interfascicular spaces, cellular infiltrates, findings of active destruction of the myelin sheath and presence of fatty granular cells were shown (10,32).…”

Section: Discussionmentioning

confidence: 99%

Myotonik Distrofi ve Normal Basınçlı Hidrosefali Birlikteliği: Nedensel mi Rastlantısal mı?

Barçın¹,

Gürbüz²,

Kizilay³

et al. 2013

tnd

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ÖzetAmaç: Myotonik distrofi tip 1 (DM1), yalnız çizgili kasları değil aynı zamanda santral sinir sistemini de içeren birden fazla sistemi etkileyen, trinükleotid tekrarlarının neden olduğu otozomal dominant geçişli gen mutasyonu sonucu en sık görülen erişkin tip müsküler distrofidir. DM1 tanılı hastalarda yapılan nörogörüntüleme bulguları ventriküler genişleme, posterior-superior trigonda beyaz cevher hiperintensiteleri (HWMPST), frontal kemikte kalınlaşma ve korpus kallosumda incelmedir. Ventrikülomegalinin en sık bildirilen bulgu olmasına rağmen, DM1 ve normal basınçlı hidrosefali (NBH) birlikteliği olan az sayıda olgu sunumları vardır. Bu çalışmanın amacı DM1 tanılı retrospektif olgu serisinde ventrikülomegali sıklığını ve aynı zamanda NBH klinik sunumunu araştırmaktır. Ge reç ve Yön tem: Klinik ve elektromyografik bulguları ile DM1 tanısı alan 20 hastada (9 kadın; ortalama yaş: 38,25±10,26 [aralık: 18-60]; ortalama hastalık süresi: 18,9 yıl±10,5 [aralık: 5-43]) nörogörüntüleme (sıklıkla beyin MRG) bulguları retrospektif olarak incelendi. Bulgular: 19 hastanın MRG'si, kalan bir hastanın ise BT'si değerlendirildi. Artmış ventriküloserebral indeks (VCI) ile hesaplanan ventrikülomegali yalnızca aynı zamanda kardeş olan iki hastada saptandı. Kardeşlerden birinde klasik NBH klinik tablosu vardı. Ventriküloperitoneal şant sonrası hastanın üriner inkontinansı ve yürüme güçlüğü düzeldi. Sonuç: Bu retrospektif analiz, erişkin DM1'de ventrikülomegalinin sık görülen nörogörüntüleme bulgusu olduğu görüşünü desteklemedi. Tercihan anormal nörogörüntüleme bulguları ile trinükleotid tekrar sayısının muhtemel ilişkisinin de cevaplanacağı genetik verilerin de dahil olduğu tarzda tasarlanan bir prospektif çalışma, erişkin DM1 ile ventrikülomegalinin nedensel bir ilişkisi olup olmadığı ve zaten kendisi bir engellilik nedeni olan bu hastalığın ileri dönemlerini daha da komplike edebilecek, oysa ki erken tanındığında geri dönüşlü olabilen NBH'nin ventrikülomegalinin klinik sunumu olup olmadığı sorusuna cevap verebilir. ( Sum maryObjective: Myotonic dystrophy type 1 (DM1) is the most common adult muscular dystrophy involving not only the striated muscle but also multiple systems including central nervous system, and resulting from a gene mutation with autosomal dominant inheritance causing trinucleotid repeats. Neuroimaging findings in patients with DM1 are ventricular enlargement, hyperintensity of white matter at the posterior-superior trigone (HWMPST), hyperostosis frontalis interna and thinning of corpus callosum. Although ventriculomegaly is reportedly the most common finding, DM1 in association with normal pressure hydrocephalus (NPH) has been reported in anecdotal case reports. The aim of this study is to investigate the frequency of ventriculomegaly and also clinical diagnosis of NPH in patients with DM1 in a retrospective case series. Ma te ri al and Met hod: Neuroimaging (mostly cranial MRI) findings in 20 patients (9 women; mean age: 38.25 years±10.26[range: 18-60]; mean disease duration: 18.9 years±10.5 ) with DM1 diag...

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Mental Deficiency Associated With Muscular Dystrophy

Cited by 162 publications

References 0 publications

Diffusion tensor imaging study in Duchenne muscular dystrophy

Diffusion tensor imaging study in Duchenne muscular dystrophy

The Kohs' blocks test as an important instrument to investigate the visuo-spatial impairments in myotonic dystrophy: part I. Quantitative and qualitative analysis

Myotonik Distrofi ve Normal Basınçlı Hidrosefali Birlikteliği: Nedensel mi Rastlantısal mı?

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