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white matter disease

Xiaole Wang, Fang He, Fei Yin, Chao Chen, Liwen Wu, Lifen Yang, Jing Peng
Leukoencephalopathies are diseases with high clinical heterogeneity. In clinical work, it's difficult for doctors to make a definite etiological diagnosis. Here, we designed a custom probe library which contains the known pathogenic genes reported to be associated with Leukoencephalopathies, and performed targeted gene capture and massively parallel sequencing (MPS) among 49 Chinese patients who has white matter damage as the main imaging changes, and made the validation by Sanger sequencing for the probands' parents...
October 25, 2016: Scientific Reports
Emna Farhat, Mourad Zouari, Ines Ben Abdelaziz, Cyrine Drissi, Rahma Beyrouti, Mohamed Ben Hammouda, Fayçal Hentati
BACKGROUND: Cerebellar ataxia represents a rare and severe complication of Sjӧgren syndrome (SS), especially with a progressive onset and cerebellar atrophy on imaging. CASE PRESENTATION: We report the case of a 30-year-old woman, with a past history of dry eyes and mouth, who presented a severe cerebellar ataxia worsening over 4 years associated with tremor of the limbs and the head. Brain MRI showed bilateral hyperintensities on T2 and FLAIR sequences, affecting periventricular white matter, with marked cerebellar atrophy...
2016: Cerebellum & Ataxias
Elijah Mak, Silvy Gabel, Habib Mirette, Li Su, Guy B Williams, Adam Waldman, Katie Wells, Karen Ritchie, Craig Ritchie, John O'Brien
The last decade has witnessed a proliferation of neuroimaging studies characterising brain changes associated with Alzheimer's disease (AD), where both widespread atrophy and 'signature' brain regions have been implicated. In parallel, a prolonged latency period has been established in AD, with abnormal cerebral changes beginning many years before symptom onset. This raises the possibility of early therapeutic intervention, even before symptoms, when treatments could have the greatest effect on disease-course modification...
October 21, 2016: Ageing Research Reviews
Nicholas W Sterling, Guangwei Du, Mechelle M Lewis, Steven Swavely, Lan Kong, Martin Styner, Xuemei Huang
Cortical atrophy has been documented in both Parkinson's disease (PD) and healthy aging, but its relationship to changes in subcortical white matter is unknown. This was investigated by obtaining T1- and diffusion-weighted images from 76 PD and 70 controls at baseline and 18 and 36 months, from which cortical volumes and underlying subcortical white matter axial diffusivity (AD), radial diffusivity (RD), and fractional anisotropy (FA) were determined. Twelve of 69 cortical subregions had significant group differences, and for these, underlying subcortical white matter was explored...
September 28, 2016: Neurobiology of Aging
Stuti Joshi, Wayne Yau, Allan Kermode
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an inherited small vessel disease, manifesting as recurrent ischaemic events, migraine with aura, behavioural disturbance and cognitive decline. We report two patients with CADASIL masquerading as multiple sclerosis (MS). A 23year old female presented with a visual scotoma and was discovered to have a corresponding retinal cotton wool spot. MRI brain revealed diffuse T2 hyperintensities suggestive of demyelination...
October 20, 2016: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
Abdulkadir Tunç, Belma Doğan Güngen, Ferhat Evliyaoğlu, Yeşim Güzey Aras, Aysel Kaya Tekeşin
The aim of this study was to investigate retinal nerve fiber layer (RNFL), ganglion cell layer (GCL) thickness, macular changes (central subfield thickness (CST), cube average thickness (CAT), cube volume (CV) in patients with migraine using spectral-domain optical coherence tomography (OCT) and to assess if there was any correlation with white matter lesions (WML). In this prospective case-control study, RNFL, GCL thickness and macular changes of 19 migraine patients with aura (MA), 41 migraine without aura (MO) and 60 age- and gender-matched healthy subjects were measured using OCT device...
October 21, 2016: Acta Neurologica Belgica
Prashanthi Vemuri, David S Knopman, Clifford R Jack, Emily S Lundt, Stephen D Weigand, Samantha M Zuk, Kaely B Thostenson, Robert I Reid, Kejal Kantarci, Yelena Slinin, Kamakshi Lakshminarayan, Cynthia S Davey, Anne Murray
BACKGROUND: Chronic kidney disease (CKD) studies have reported variable prevalence of brain pathologies, in part due to low inclusion of participants with moderate to severe CKD. OBJECTIVE: To measure the association between kidney function biomarkers and brain MRI findings in CKD. METHODS: In the BRINK (BRain IN Kidney Disease) study, MRI was used to measure gray matter volumes, cerebrovascular pathologies (white matter hyperintensity (WMH), infarctions, microhemorrhages), and microstructural changes using diffusion tensor imaging (DTI)...
October 19, 2016: Journal of Alzheimer's Disease: JAD
Guiyou Liu, Fang Zhang, Yang Hu, Yongshuai Jiang, Zhongying Gong, Shoufeng Liu, Xiuju Chen, Qinghua Jiang, Junwei Hao
A recent genome-wide association study reported a significant association between rs9828519 (G) and nonresponsiveness to interferon-beta (IFN-β) treatment and dysregulation of SLC9A9 expression in multiple sclerosis (MS) cases. We hypothesize that disease-relevant tissues are necessary to detect the effects of rs9828519-tagged SNPs on SLC9A9 expression. Here, we investigated whether SLC9A9 expression is regulated by rs9828519-tagged SNPs in human brain tissue. We used HaploReg to identify the proxy SNPs of the rs9828519 variant based on linkage disequilibrium information from the 1000 Genomes Project...
October 20, 2016: Molecular Neurobiology
Alba Di Pardo, Enrico Amico, Vittorio Maglione
Huntington Disease (HD) is a genetic neurodegenerative disorder characterized by broad types of cellular and molecular dysfunctions that may affect both neuronal and non-neuronal cell populations. Among all the molecular mechanisms underlying the complex pathogenesis of the disease, alteration of sphingolipids has been identified as one of the most important determinants in the last years. In the present study, besides the purpose of further confirming the evidence of perturbed metabolism of gangliosides GM1, GD1a, and GT1b the most abundant cerebral glycosphingolipids, in the striatal and cortical tissues of HD transgenic mice, we aimed to test the hypothesis that abnormal levels of these lipids may be found also in the corpus callosum white matter, a ganglioside-enriched brain region described being dysfunctional early in the disease...
2016: Frontiers in Neuroscience
Robert S C Amaral, Min Tae M Park, Gabriel A Devenyi, Vivian Lynn, Jon Pipitone, Julie Winterburn, Sofia Chavez, Mark Schira, Nancy Lobaugh, Aristotle N Voineskos, Jens C Pruessner, M Mallar Chakravarty
Recently, much attention has been focused on the definition and structure of the hippocampus and its subfields, while the projections from the hippocampus have been relatively understudied. Here, we derive a reliable protocol for manual segmentation of hippocampal white matter regions (alveus, fimbria, and fornix) using high-resolution magnetic resonance images that are complementary to our previous definitions of the hippocampal subfields, both of which are freely available at
October 17, 2016: NeuroImage
M Pistacchi, M Gioulis, F Sanson, S M Marsala
INTRODUCTION: Fahr's disease is characterized by bilateral calcium deposition within the basal ganglia, cerebellar dentate nucleus and subcortical brain white matter. The main clinical manifestations are rigid or hyperkinetic syndrome, mood disorders and cognitive impairment. The correlation between neurological impairment and symmetrical basal ganglia calcification is not so frequent. Aim of the study was to report the results of neurological assessment of three sporadic cases of Fahr's disease highlighting a correlation between the clinical syndrome and neuroimaging...
2016: Folia Neuropathologica
Ming-Ching Wen, Hannah S E Heng, Samuel Y E Ng, Louis C S Tan, Ling Ling Chan, Eng King Tan
Parkinson's disease (PD) is a debilitating neurodegenerative disorder. Findings on specific white matter (WM) alterations in PD have been inconsistent. We hypothesized that WM changes occur in early PD patients and unbiased whole-brain analysis may provide additional evidence of pathological WM changes in PD. In this study, we examined various indexes of WM microstructure in newly diagnosed PD patients at the whole-brain level. 64 PDs with Hoehn &Yahr stage 1 (HY1PDs), 87 PDs with Hoehn &Yahr stage 2 (HYPD2s), and 60 controls (HCs) were recruited...
October 20, 2016: Scientific Reports
Rangaswamy, V Ranjith, L Vikas, R Santosh
Fahr's disease or Fahr's syndrome is a rare neurodegenerative disorder characterized by abnormal symmetrical calcifications of the basal ganglia, thalami, sub-cortical hemispheric white matter and deep cerebellar nuclei. It can be idiopathic or associated with an endocrinopathy, frequently with parathyroid disorder. Clinical spectrum of the disease is wide ranging from neurological features like seizure, syncope, stroke like events, extra-pyramidal symptoms often combined with frontal sub-cortical pattern of behavioural dysfunction and psychiatric symptoms such as psychosis, mood disorder and dementia...
August 2016: Journal of the Association of Physicians of India
Karan Seegobin, Kamille Abdool, Kanterpersad Ramcharan, Haramnauth Dyaanand, Fidel Rampersad
We describe a case of Parry Romberg syndrome/en coupe de sabre in a woman whose disease started as seizures at age 8 but was diagnosed at the age 39. During these 31 years she got married, completed a first degree at university, had two successful pregnancies and has been gainfully employed. The features of generalized tonic-clonic seizures, autoimmune abnormalities, ocular abnormalities, morphea en coup de sabre and brain imaging abnormalities were present. Areas of parietal lobe cerebral calcification were encountered on the computed tomographic scan and bilateral periventricular white matter changes on the magnetic resonance imaging with frontal, temporal and parietal lobe brain atrophy ipsilateral to the facial hemiatrophy...
September 30, 2016: Neurology International
Woong-Woo Lee, Eun Jin Yoon, Jee-Young Lee, Sun-Won Park, Yu Kyeong Kim
BACKGROUND AND OBJECTIVES: The incidence of visual hallucination (VH) increases with Parkinson's disease (PD) progression, and its development is thought to be related to a specific neurodegenerative process in PD. This study aimed to reveal brain degeneration related to VH in PD by analyzing neuroimaging data obtained from patients in their different stages of PD. METHODS: Data from 48 PD patients - 21 nondemented without VH (PNV group), 10 nondemented with VH (PV group), and 17 demented with VH (PVD group) - and 30 age-matched healthy controls (HC group) were analyzed...
October 20, 2016: Neuro-degenerative Diseases
J A Molad, D T Blumenthal, F Bokstein, M Findler, I Finkel, N M Bornstein, S Yust-Katz, E Auriel
Post-radiation leukoencephalopathy is characterized by cognitive impairment and white matter alternations on imaging. Cerebral small vessel disease (SVD) is one of several suggested etiologies. Cerebral microinfarction (CMI) is a recently described marker of SVD. We sought to examine the rate of CMI as a biomarker of ongoing ischemia among patients who underwent brain radiotherapy (RT). 110 patients treated with RT for primary or metastatic brain tumors were enrolled. A total of 685 brain MRI tests performed 1-108 months post-radiation were examined...
October 18, 2016: Journal of Neuro-oncology
Craig Anderson, Shoichiro Sato, Candice Delcourt, Hisatomi Arima, Shihong Zhang, Rustam RAl-Shahi Salman, Christian Stapf, Dan Woo, Matthew Flaherty, Achala Vagal, Jiguang Wang, John Chalmers
OBJECTIVE: The INTERACT2 trial demonstrated beneficial effects of early intensive blood pressure (BP) lowering in intracerebral hemorrhage (ICH). However, concerns persist over harms associated with the treatment, particularly in patients with cerebral small vessel disease (CSVD) (ie white matter lesions [WML], lacunes and atrophy) and renal failure. We determined associations of CSVD, and renal failure, on outcomes in INTERACT2 participants. DESIGN AND METHOD: There were 2069/2839 patients with baseline brain CT (< 6hr ICH onset)...
September 2016: Journal of Hypertension
Yuda Turana
Observational studies have conveyed the connection between hypertension and cognitive impairment. Several forms of dementia are more frequent in hypertensive subjects or those with previous history of hypertension compared to subjects with normal blood pressure.In many studies, hypertension occuring in mid-life is a risk factor of dementia occuring in later age. Long-standing hypertension will induce structural damages in the brain. It is also widely known that hypertension attributes to small vessel diseases causing lacunar infarcts and white matter lesions associated with cognitive decline...
September 2016: Journal of Hypertension
Qiang Yu, David Reutens, Kieran O'Brien, Viktor Vegh
OBJECTIVES: Tissue microstructure features, namely axon radius and volume fraction, provide important information on the function of white matter pathways. These parameters vary on the scale much smaller than imaging voxels (microscale) yet influence the magnetic resonance imaging diffusion signal at the image voxel scale (macroscale) in an anomalous manner. Researchers have already mapped anomalous diffusion parameters from magnetic resonance imaging data, but macroscopic variations have not been related to microscale influences...
October 18, 2016: Human Brain Mapping
H-J Kim, S-I Oh, M de Leon, X Wang, K-W Oh, J-S Park, A Deshpande, M Buj, S H Kim
BACKGROUND AND PURPOSE: Amyotrophic lateral sclerosis (ALS), a motor neuron disease, is associated with various cortical symptoms including mild cognitive decline with behavior changes, suggesting the involvement of extra-motor areas in ALS. Our aim was to investigate the specific patterns of brain atrophy in sporadic, impaired ALS patients without commonly known genetic mutations using voxel-based morphometry. MATERIALS AND METHODS: Forty-seven patients with sporadic ALS and 28 age-matched healthy controls were recruited...
October 18, 2016: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
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