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BMC Neurology ◽  
2022 ◽  
Vol 22 (1) ◽  
Author(s):  
Michelle Paff ◽  
Nardin Samuel ◽  
Noor Alsafwani ◽  
Darcia Paul ◽  
Phedias Diamandis ◽  
...  

Abstract Background Leukoencephalopathy with brain calcifications and cysts (LCC; also known as Labrune syndrome) is a rare genetic microangiopathy caused by biallelic mutations in SNORD118. The mechanisms by which loss-of-function mutations in SNORD118 lead to the phenotype of leukoencephalopathy, calcifications and intracranial cysts is unknown. Case presentation We present the histopathology of a 36-year-old woman with ataxia and neuroimaging findings of diffuse white matter abnormalities, cerebral calcifications, and parenchymal cysts, in whom the diagnosis of LCC was confirmed with genetic testing. Biopsy of frontal white matter revealed microangiopathy with small vessel occlusion and sclerosis associated with axonal loss within the white matter. Conclusions These findings support that the white matter changes seen in LCC arise as a consequence of ischemia rather than demyelination.


2021 ◽  
Vol 17 (S1) ◽  
Author(s):  
Derek B Archer ◽  
Elizabeth E. Moore ◽  
Ujwala Pamidimukkala ◽  
Niranjana Shashikumar ◽  
Kimberly R. Pechman ◽  
...  

2021 ◽  
Vol 429 ◽  
pp. 118504
Author(s):  
Richard Ibitoye ◽  
Patricia Castro ◽  
Josie Cooke ◽  
John Allum ◽  
Louisa Murdin ◽  
...  

2021 ◽  
Vol 429 ◽  
pp. 117723
Author(s):  
Richard Ibitoye ◽  
Patricia Castro ◽  
Josie Cooke ◽  
John Allum ◽  
Louisa Murdin ◽  
...  

2021 ◽  
pp. 355-360
Author(s):  
Tongjia Cai ◽  
Sisi Jing ◽  
Ying Li ◽  
Jianjun Wu

Adult-onset Alexander disease (AOAD) is an autosomal dominant progressive astrogliopathy caused by pathogenic variants in glial fibrillary acidic protein (<i>GFAP</i>). Individuals with this disorder often present with a typical neuroradiologic pattern, including frontal white matter abnormality with contrast enhancement, atrophy and signal intensity changes of the medulla oblongata and upper cervical cord on MRI. Focal lesions are rarely seen in AOAD, which causes concern for primary malignancies. This study aimed to present the case of a 37-year-old male patient initially diagnosed with an astrocytoma in the lateral ventricle that was later identified as GFAP mutation-confirmed AOAD. <i>GFAP</i> sequencing revealed a heterogeneous missense mutation point c.236G&#x3e;A. Hence, AOAD should be considered in patients with tumor-like lesion brain lesion in association with atrophy of medulla oblongata and upper cervical spinal cord, and frontal white matter abnormality with contrast enhancement.


2021 ◽  
Vol 15 ◽  
Author(s):  
Xianjun Chen ◽  
Nan-Xin Huang ◽  
Yong-Jie Cheng ◽  
Qi-Yan Cai ◽  
Yan-Ping Tian ◽  
...  

Increasing evidence has demonstrated that in addition to dysfunction of neuronal circuitry, oligodendroglial dysfunction and/or disruption of white matter integrity are found in the brains of patients with schizophrenia. DNA methylation, a well-established risk factor for schizophrenia, has been demonstrated to cause neuronal dysfunction; however, whether dysregulation of DNA methylation contributes to oligodendroglial/myelin deficits in the pathogenesis of schizophrenia remains unclear. In the present study, by using L-methionine-treated mice, we confirmed that mice with DNA hypermethylation exhibited an anxious phenotype, impaired sociability, and sensorimotor gating deficits. Notably, DNA hypermethylation in oligodendroglial cells led to dysregulation of multiple oligodendroglia-specific transcription factors, which indicated disruption of the transcriptional architecture. Furthermore, DNA hypermethylation caused a reduction of oligodendroglial lineage cells and myelin integrity in the frontal white matter of mice. Taken together, these results indicate that DNA hypermethylation leads to oligodendroglial and/or myelin deficits, which may, at least in part, contribute to schizophrenia-like behaviors in mice. This study provides new insights into the possibility that precise modulation of DNA methylation status in oligodendroglia could be beneficial for the white matter pathology in schizophrenia.


2021 ◽  
Vol 80 (3) ◽  
pp. 1105-1117
Author(s):  
Stefania Merighi ◽  
Enrica Battistello ◽  
Ilaria Casetta ◽  
Daniela Gragnaniello ◽  
Tino Emanuele Poloni ◽  
...  

Background: Alzheimer’s disease (AD) is a neurodegenerative pathology covering about 70%of all cases of dementia. Adenosine, a ubiquitous nucleoside, plays a key role in neurodegeneration, through interaction with four receptor subtypes. The A2A receptor is upregulated in peripheral blood cells of patients affected by Parkinson’s and Huntington’s diseases, reflecting the same alteration found in brain tissues. However, whether these changes are also present in AD pathology has not been determined. Objective: In this study we verified any significant difference between AD cases and controls in both brain and platelets and we evaluated whether peripheral A2A receptors may reflect the status of neuronal A2A receptors. Methods: We evaluated the expression of A2A receptors in frontal white matter, frontal gray matter, and hippocampus/entorhinal cortex, in postmortem AD patients and control subjects, through [3H]ZM 241385 binding experiments. The same analysis was performed in peripheral platelets from AD patients versus controls. Results: The expression of A2A receptors in frontal white matter, frontal gray matter, and hippocampus/entorhinal cortex, revealed a density (Bmax) of 174±29, 219±33, and 358±84 fmol/mg of proteins, respectively, in postmortem AD patients in comparison to 104±16, 103±19, and 121±20 fmol/mg of proteins in controls (p < 0.01). The same trend was observed in peripheral platelets from AD patients versus controls (Bmax of 214±17 versus 95±4 fmol/mg of proteins, respectively, p < 0.01). Conclusion: AD subjects show significantly higher A2A receptor density than controls. Values on platelets seem to correlate with those in the brain supporting a role for A2A receptor as a possible marker of AD pathology and drug target for novel therapies able to modify the progression of dementia.


2020 ◽  
Vol 16 (S5) ◽  
Author(s):  
Rose Bruffaerts ◽  
Jolien Schaeverbeke ◽  
Manon Grube ◽  
Timothy Griffiths ◽  
Stefan Sunaert ◽  
...  

2020 ◽  
Vol 16 (S2) ◽  
Author(s):  
Kirsty E. McAleese ◽  
Mohi Miah ◽  
Sophie Graham ◽  
Georgie Baker ◽  
Lauren Walker ◽  
...  

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