Decreased cerebral perfusion in Duchenne muscular dystrophy patients

Doorenweerd, N.; Dumas, Eve M.; Ghariq, Eidrees; Schmid, Sophie; Straathof, C.S.M.; Roest, Arno A.W.; Wokke, B.H.A.; Zwet, Erik W. van; Webb, Andrew; Hendriksen, Jos G.M.; Buchem, Mark A. van; Verschuuren, Jan J.; Asllani, Iris; Niks, Erik H.; Osch, Matthias J.P. van; Kan, Hermien E.

doi:10.1016/j.nmd.2016.10.005

Cited by 30 publications

(34 citation statements)

References 45 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Using quantitative magnetic resonance imaging (MRI) we have previously shown reduced grey matter volume, altered white matter microstructure and reduced cerebral perfusion in DMD patients compared to age-matched healthy controls [16,17]. Both structural and perfusion differences were measured throughout the brain and were more pronounced in patients with mutations predicted to affect Dp140 in addition to Dp427 expression.…”

Section: Introductionmentioning

confidence: 99%

Proton Magnetic Resonance Spectroscopy Indicates Preserved Cerebral Biochemical Composition in Duchenne Muscular Dystrophy Patients

Doorenweerd

Hooijmans

Schubert

et al. 2017

JND

Self Cite

View full text Add to dashboard Cite

show abstract

Section: Introductionmentioning

confidence: 99%

Proton Magnetic Resonance Spectroscopy Indicates Preserved Cerebral Biochemical Composition in Duchenne Muscular Dystrophy Patients

Doorenweerd

Hooijmans

Schubert

et al. 2017

JND

Self Cite

View full text Add to dashboard Cite

show abstract

“…A lower CBF has been reported in young DMD boys compared to healthy age-matched controls (Doorenweerd et al, 2017), which indicates that the patients could suffer from a dysfunctional stimulus-induced CBF regulation leading to a decreased BOLD response.…”

Section: Discussionmentioning

confidence: 89%

“…Baseline cerebral perfusion is regulated by both large artery and small artery responses, and influences the size of the BOLD response due to possible vascular ceiling effects (Birn & Bandettini, ; Buxton, Uludağ, Dubowitz, & Liu, ) which could affect brain activation BOLD data. A lower CBF has been reported in young DMD boys compared to healthy age‐matched controls (Doorenweerd et al., ), which indicates that the patients could suffer from a dysfunctional stimulus‐induced CBF regulation leading to a decreased BOLD response.…”

Section: Discussionmentioning

confidence: 90%

“…In patients with DMD, compared with matched controls, structural abnormalities such as smaller total brain volume, reduced cerebral gray matter volume, and perfusion deficits were recently reported (Doorenweerd et al, 2014(Doorenweerd et al, , 2017. Functional connectivity studies showed an altered neurovascular activation in DMD patients with blood oxygen level-dependent (BOLD) changes in the motor cortex measured by resting state functional magnetic resonance imaging (fMRI) (Lv et al, 2011).…”

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Altered somatosensory neurovascular response in patients with Becker muscular dystrophy

et al. 2018

View full text Add to dashboard Cite

IntroductionPatients with dystrophinopathies show low levels of neuronal nitric oxide synthase (nNOS), due to reduced or absent dystrophin expression, as nNOS is attached to the dystrophin‐associated protein complex. Deficient nNOS function leads to functional ischemia during muscle activity. Dystrophin‐like proteins with nNOS attached have also been identified in the brain. This suggests that a mechanism of cerebral functional ischemia with attenuation of normal activation‐related vascular response may cause changes in brain function.MethodsThe aim of this study was to investigate whether the brain response of patients with Becker muscular dystrophy (BMD) is dysfunctional compared to that of healthy controls. To investigate a potential change in brain activation response in patients with BMD, median nerve somatosensory evoked stimulation, with stimulation durations of 2, 4, and 10 s, was performed while recording electroencephalography and blood oxygen level‐dependent (BOLD) functional magnetic resonance imaging.ResultsResults in 14 male patients with BMD (36.2 ± 9.9 years) were compared with those of 10 healthy controls (34.4 ± 10.9 years). Compared to controls, the patients with BMD showed sustained cortical electrical activity and a significant smaller BOLD activation in contralateral primary somatosensory cortex and bilaterally in secondary somatosensory cortex. In addition, significant activation differences were found after long duration (10 s) stimuli in thalamus.ConclusionAn altered neurovascular response in patients with BMD may increase our understanding of neurovascular coupling and the pathogenesis related to dystrophinopathy and nNOS.

show abstract

“…The exact role of dystrophin isoforms in the central nervous system remains unclear; however, it is possible that mutations affecting Dp140 [4][5][6][7][8]11,14,[16][17][18] and Dp71 [5][6][7]8,11,14,[19][20][21][22]. DMD patients without Dp140 show reduced gray matter volume and decreased cerebral blood flow [23,24]. The absence of dystrophin has been established to result in aberrant synapse maturation and neurotransmission in the hippocampus, neocortex, cerebellum, and amygdala, and has been linked to learning and memory problems [25].…”

mentioning

confidence: 99%

The Mini-Mental State Examination (MMSE) as a Cognitive Screening Tool in Duchenne Muscular Dystrophy

et al. 2020

View full text Add to dashboard Cite

Duchenne muscular dystrophy (DMD), a lethal X-linked recessive neuromuscular disorder, is caused by mutations in the gene encoding the dystrophin protein. Besides muscle weakness, static cogni-Purpose: Given that intellectual disability affects 15% to 63% of boys with Duchenne muscular dystrophy (DMD), it is relevant to evaluate if the Mini-Mental State Examination (MMSE) is a reliable test for screening in these cognitively impaired boys. Methods: A descriptive study of 74 DMD boys was performed. Age, years of schooling, genotype, and performance in the MMSE and Wechsler Intelligence Scale for Children (WISC)-IV were verified. Results: Sixty-seven patients, with a mean of age 12.1±3 years were enrolled. Verbal comprehension (76.9±13.9) and working memory (71.2±16.7) indexes showed the highest impairment. Correlation between the MMSE (20.3±6.1) and WISC-IV (74.4±15.6) was moderate (r=0.556). Conclusion: The MMSE is a good cognitive screening test for DMD patients of 9 years and older, particularly in countries where the public health system does not provide expensive neuropsychological batteries, and has 78% accuracy and 82% sensitivity for scores ≤21. Subtests of the MMSE with better discriminatory power (for orientation, attention, and calculation) can help educators, teachers, and families to develop simple activities or academic games that enhance such mental skills.

show abstract

Decreased cerebral perfusion in Duchenne muscular dystrophy patients

Cited by 30 publications

References 45 publications

Proton Magnetic Resonance Spectroscopy Indicates Preserved Cerebral Biochemical Composition in Duchenne Muscular Dystrophy Patients

Proton Magnetic Resonance Spectroscopy Indicates Preserved Cerebral Biochemical Composition in Duchenne Muscular Dystrophy Patients

Altered somatosensory neurovascular response in patients with Becker muscular dystrophy

The Mini-Mental State Examination (MMSE) as a Cognitive Screening Tool in Duchenne Muscular Dystrophy

Contact Info

Product

Resources

About