Subtle cognitive dysfunction in adult onset myotonic dystrophy type 1 (DM1) and type 2 (DM2)

Gaul, Charly; Schmidt, Thomas P.; Windisch, G.; Wieser, Thomas; Müller, Theresa; Vielhaber, Stefan; Zierz, S; Leplow, Bernd

doi:10.1212/01.wnl.0000225180.27833.c1

Cited by 55 publications

(39 citation statements)

References 8 publications

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“…Regarding verbal fluency, patients with DM2, like those with DM1, do not display lexical impairment on clinical examination and, in agreement with the clinical impression, have normal verbal fluency. 71,72 This is in contrast with findings of Gaul et al 37 that DM1 and DM2 patients scored lower than controls with respect to lexical verbal fluency.…”

Section: Brain Involvement In Dm2contrasting

confidence: 79%

“…From a neuropsychological perspective, visual-spatial deficits are detected when patients are asked to copy a complex figure while maintaining its correct intersections and angles (Rey copy and recall). There is general agreement that patients with DM1 present deficits in visual-spatial performance 14,37,71,125 because their scores on neuropsychological tests are significantly lower than in age-and educationmatched controls. Modoni et al 78 strengthened this conclusion in a recent study performed on a larger sample of patients stratified by CTG size and demonstrated that, despite small expansions, visualspatial deficits characterize the neuropsychological profile of adult patients with DM1 in contrast with the more general intellectual impairment of patients with congenital forms.…”

Section: Global Intelligencementioning

confidence: 99%

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Cerebral involvement in myotonic dystrophies

2007

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Myotonic dystrophy types 1 (DM1) and 2 (DM2) are similar yet distinct autosomal-dominant disorders characterized by muscle weakness, myotonia, cataracts, and multiple organ involvement, including the brain. One key difference between DM1 and DM2 is that a congenital form has been described for DM1 only. Expression of RNA transcripts containing pathogenic repeat lengths produces defects in alternative splicing of multiple RNAs, sequesters specific repeat-binding proteins, and ultimately leads to developmentally inappropriate splice products for a particular tissue. Whether brain pathology in its entirety in adult DM1 and DM2 is caused by interference in RNA processing remains to be determined. This review focuses on the similarities and differences between DM1 and DM2 with respect to neuropsychological, neuropathological, and neuroimaging data relating to cerebral involvement, with special emphasis on the clinical relevance and social consequences of such involvement.

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Section: Brain Involvement In Dm2contrasting

confidence: 79%

Section: Global Intelligencementioning

confidence: 99%

Cerebral involvement in myotonic dystrophies

2007

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“…This would enable the full range of activity-related cognitive plasticity to be mapped, and could have implications for situations or conditions in which physical activity levels become severely restricted. This includes medical conditions like myotonic dystrophy and fibromyalgia (Maquet et al 2002(Maquet et al , 2007McDonald 2002), for which cognitive impairments have been found (Gaul et al 2006;Park et al 2001).…”

Section: Introductionmentioning

confidence: 99%

Physical inactivity and cognitive functioning: results from bed rest studies

Lipnicki

Gunga²

2008

Eur J Appl Physiol

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In addition to multiple health benefits, participation in physical activity can enhance cognitive functioning. Less clear is how reducing physical activity levels affects cognition, an issue potentially addressed by bed rest studies having included cognitive tests. Detailed and reviewed here are 17 such studies, featuring 251 subjects, bed rest for 7-70 days, and tests of cognition ranging from reaction time to executive functions. The reported effects of bed rest on cognitive performance vary considerably, from a generally expected worsening to an improvement. Practice effects could be implicated in the performance improvements, and reports of worsening are often of limited interpretability or the results were not replicated. Any cognitive effects of bed rest thus remain to be established. Detrimental effects could influence the in-progress plans for human spaceflights to Mars (simulated by bed rest), and have implications for medical conditions promoting inactivity and lifestyles that are largely sedentary.

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“…While mental retardation is seen in congenital cases, behavioural disorders including obsessive compulsive disorder, schizotypal personality disorder, lack of empathy and cognitive loss are seen in the adult form (1,2). There is no general consensus on whether cognitive loss is permanent or progressive, and it is usually seen in executive functions, as impairment of visual -spatial abilities, slowing in information processing and attention and memory impairment (3,4,5,6,7,8).…”

Section: Introductionmentioning

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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Subtle cognitive dysfunction in adult onset myotonic dystrophy type 1 (DM1) and type 2 (DM2)

Cited by 55 publications

References 8 publications

Cerebral involvement in myotonic dystrophies

Cerebral involvement in myotonic dystrophies

Physical inactivity and cognitive functioning: results from bed rest studies

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

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