Reduced cerebral blood flow and impaired visual–spatial function in proximal myotonic myopathy

Meola, G.; Sansone, Valeria; Perani, Daniela; Colleluori, A.; Cappa, S.; Cotelli, Maria; Fazio, F.; Thornton, Charles A.; Moxley, Richard T.

doi:10.1212/wnl.53.5.1042

Cited by 101 publications

(120 citation statements)

References 27 publications

(31 reference statements)

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“…This separation allows "shifts" in patients' internal standards to be identifi ed if satisfaction with life domains has altered independently from a change in perceived symptoms [11]. It may be possible that in DM1 in contrast to other disabling neuromuscular disorders adaptive coping behavior is reduced or even not present because of frontal lobe dysfunction and avoidant personality trait that have been previously reported in these patients [20,21].…”

Section: Resultsmentioning

confidence: 96%

Serbian Validation of the Individualized Neuromuscular Quality of Life Questionnaire (INQoL) in Adults With Myotonic Dystrophy Type 1

Peric

2011

J Neurol Res

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Section: Resultsmentioning

confidence: 96%

Serbian Validation of the Individualized Neuromuscular Quality of Life Questionnaire (INQoL) in Adults With Myotonic Dystrophy Type 1

Peric

2011

J Neurol Res

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“…lobe specific) compared to unaffected controls (table 3). 45,63,69,[81][82][83][84] Controlling for possible volumetric differences in two of these studies did not alter the results. 63,69 Five SPECT studies demonstrated a picture in line with findings from PET studies, demonstrating both globally and regional decreases (i.e.…”

Section: Structural Imaging Studiesmentioning

confidence: 99%

Brain imaging in myotonic dystrophy type 1

Okkersen

Monckton

et al. 2017

Neurology

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Objective:To systematically review brain imaging studies in myotonic dystrophy type 1 (DM1).Methods:We searched Embase (index period 1974–2016) and MEDLINE (index period 1946–2016) for studies in patients with DM1 using MRI, magnetic resonance spectroscopy (MRS), functional MRI (fMRI), CT, ultrasound, PET, or SPECT. From 81 studies, we extracted clinical characteristics, primary outcomes, clinical-genetic correlations, and information on potential risk of bias. Results were summarized and pooled prevalence of imaging abnormalities was calculated, where possible.Results:In DM1, various imaging changes are widely dispersed throughout the brain, with apparently little anatomical specificity. We found general atrophy and widespread gray matter volume reductions in all 4 cortical lobes, the basal ganglia, and cerebellum. The pooled prevalence of white matter hyperintensities is 70% (95% CI 64–77), compared with 6% (95% CI 3–12) in unaffected controls. DTI shows increased mean diffusivity in all 4 lobes and reduced fractional anisotropy in virtually all major association, projection, and commissural white matter tracts. Functional studies demonstrate reduced glucose uptake and cerebral perfusion in frontal, parietal, and temporal lobes, and abnormal fMRI connectivity patterns that correlate with personality traits. There is significant between-study heterogeneity in terms of imaging methods, which together with the established clinical variability of DM1 may explain divergent results. Longitudinal studies are remarkably scarce.Conclusions:DM1 brains show widespread white and gray matter involvement throughout the brain, which is supported by abnormal resting-state network, PET/SPECT, and MRS parameters. Longitudinal studies evaluating spatiotemporal imaging changes are essential.

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“…In addition to these clinical findings of the central nervous system, microcephaly and especially pronounced thickening in the frontal bone, white matter lesions, atrophy and dilation in the ventricles, decrease in the cerebral glucose metabolism, hypoperfusion in the frontotemporoparietal cortex and decrease in the cerebral blood flow have been reported in functional imaging investigations (6,19,20,21,22,23,24). Although the presence of MRI findings are considerably accepted in DM1 patients, they may be controversial due to some investigators claiming white matter changes to be nonspecific and MRI findings to be accepted within normal limits (22,24).…”

Section: Discussionmentioning

confidence: 92%

“…Although the presence of MRI findings are considerably accepted in DM1 patients, they may be controversial due to some investigators claiming white matter changes to be nonspecific and MRI findings to be accepted within normal limits (22,24). Cranial MRI findings in adult type DM1 patients including cerebral atrophy, white matter changes and thinning in the corpus callosum have been shown to be strongly related with the duration of the disease (25).…”

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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Reduced cerebral blood flow and impaired visual–spatial function in proximal myotonic myopathy

Abstract: Impaired visual-spatial function may be present in proximal myotonic myopathy. This correlates best with a reduction in regional cerebral blood flow observed in H2(15)O PET brain scans rather than with specific structural abnormalities observed on brain MRI.

Cited by 101 publications

References 27 publications

Serbian Validation of the Individualized Neuromuscular Quality of Life Questionnaire (INQoL) in Adults With Myotonic Dystrophy Type 1

Serbian Validation of the Individualized Neuromuscular Quality of Life Questionnaire (INQoL) in Adults With Myotonic Dystrophy Type 1

Brain imaging in myotonic dystrophy type 1

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

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