Recursive hierarchical embedding in vision is impaired by posterior middle temporal gyrus lesions
AbstractThe generation of hierarchical structures is central to language, music and complex action. Understanding this capacity and its potential impairments requires mapping its underlying cognitive processes to the respective neuronal underpinnings. In language, left inferior frontal gyrus and left posterior temporal cortex (superior temporal sulcus/middle temporal gyrus) are considered hubs for syntactic processing. However, it is unclear whether these regions support computations specific to language or more generally support analyses of hierarchical structure. Here, we address this issue by investigating hierarchical ...
Source: Brain - September 27, 2019 Category: Neurology Source Type: research

Elevated tau PET signal depends on abnormal amyloid levels and is uncommon in unimpaired individuals
This scientific commentary refers to ‘The bivariate distribution of amyloid-β and tau: relationship with established neurocognitive clinical syndromes’, by Jacket al. (doi:10.1093/brain/awz268). (Source: Brain)
Source: Brain - September 27, 2019 Category: Neurology Source Type: research

Editorial
Among the fruits of the emerging science of citation analysis are the claims that the presence of a colon in an article ’s title predicts a higher rate of citation, and that a question mark has the opposite effect. After all, a colon (or for that matter, a semi-colon or dash) arguably allows more information to be conveyed within a strict word limit, whilst a question mark suggests that the study failed to arrive a t a definitive answer. If true, it would be tempting to guide authors towards colons and away from question marks in order to increase the rate at which their work will subsequently be cited. But is there ...
Source: Brain - September 27, 2019 Category: Neurology Source Type: research

Hereditary nodo-paranodopathies: genomic variants, not just autoantibodies, hit the protein
(Source: Brain)
Source: Brain - September 27, 2019 Category: Neurology Source Type: research

What is gained or ‘lost in translation’ in Huntington’s disease
This scientific commentary refers to ‘Increased translation as a novel pathogenic mechanism in Huntington’s disease’, by Jordi Creus-Muncunillet al. (doi:10.1093/brain/awz230). (Source: Brain)
Source: Brain - September 27, 2019 Category: Neurology Source Type: research

Clinical MEG passes another milestone
This scientific commentary refers to ‘Magnetoencephalography for epileptic focus localization in a series of 1000 cases’, by Ramppet al. (doi:10.1093/brain/awz231). (Source: Brain)
Source: Brain - September 27, 2019 Category: Neurology Source Type: research

Grey Matter 150th anniversary of Charcot ’s description of amyotrophic lateral sclerosis
Charcot was the most prominent French neurologist of the 19th century, and his name will forever be associated with ALS. Corcia and Meininger examine how Charcot ’s quest to uncover the anatomical basis of hysteria led him ultimately to characterize ALS, and highlight the contributions made by others along the way. (Source: Brain)
Source: Brain - September 20, 2019 Category: Neurology Source Type: research

Cerebral differences between dopamine-resistant and dopamine-responsive Parkinson ’s tremor
AbstractRest tremor in Parkinson ’s disease is related to cerebral activity in both the basal ganglia and a cerebello-thalamo-cortical circuit. Clinically, there is strong interindividual variation in the therapeutic response of tremor to dopaminergic medication. This observation casts doubt on the idea that Parkinson’s tremor has a dopaminergic basis. An interesting alternative explanation is that interindividual differences in the pathophysiology of tremor may underlie this clinical heterogeneity. Previous work showed that dopaminergic medication reduces Parkinson’s tremor by inhibiting tremulous activi...
Source: Brain - September 11, 2019 Category: Neurology Source Type: research

Long-range fibre damage in small vessel brain disease affects aphasia severity
AbstractWe sought to determine the underlying pathophysiology relating white matter hyperintensities to chronic aphasia severity. We hypothesized that: (i) white matter hyperintensities are associated with damage to fibres of any length, but to a higher percentage of long-range compared to mid- and short-range intracerebral white matter fibres; and (ii) the number of long-range fibres mediates the relationship between white matter hyperintensities and chronic post-stroke aphasia severity. We measured the severity of periventricular and deep white matter hyperintensities and calculated the number and percentages of short-, ...
Source: Brain - September 9, 2019 Category: Neurology Source Type: research

Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination
AbstractAxon pathfinding and synapse formation are essential processes for nervous system development and function. The assembly of myelinated fibres and nodes of Ranvier is mediated by a number of cell adhesion molecules of the immunoglobulin superfamily including neurofascin, encoded by theNFASC gene, and its alternative isoforms Nfasc186 and Nfasc140 (located in the axonal membrane at the node of Ranvier) and Nfasc155 (a glial component of the paranodal axoglial junction). We identified 10 individuals from six unrelated families, exhibiting a neurodevelopmental disorder characterized with a spectrum of central (intellec...
Source: Brain - September 9, 2019 Category: Neurology Source Type: research

The bivariate distribution of amyloid- β and tau: relationship with established neurocognitive clinical syndromes
We examined these clinical groups in relation to the bivariate distribution of amyloid and tau PET values. Individuals were grouped into amyloid (A)/tau (T) quadrants based on previously established abnormality cut points of s tandardized uptake value ratio 1.48 (A) and 1.33 (T). Individual participants largely fell into one of three amyloid/tau quadrants: low amyloid and low tau (A−T−), high amyloid and low tau (A+T−), or high amyloid and high tau (A+T+). Seventy per cent of cognitively unimpaired and 74% of FTD pa rticipants fell into the A−T− quadrant. Participants with mild cognitive impai...
Source: Brain - September 9, 2019 Category: Neurology Source Type: research

Handedness, language areas and neuropsychiatric diseases: insights from brain imaging and genetics
This study has identified in the general population genome-wide significant loci for human handedness in, and expression quantitative trait loci of, genes associated with brain development, microtubules and patterning. We suggest that these genetic variants contribute to neurodevelopmental la teralization of brain organization, which in turn influences both the handedness phenotype and the predisposition to develop certain neurological and psychiatric diseases. (Source: Brain)
Source: Brain - September 5, 2019 Category: Neurology Source Type: research

Assessing and mapping language, attention and executive multidimensional deficits in stroke aphasia
In conclusion, our findings confirm and extend our understanding of the multidimensionality of stroke aphasia, emphasize the importance of assessing non-verbal cognition in this patient group and provide directions for future research and cl inical practice. We also briefly compare and discuss univariate and multivariate methods for brain-behaviour mapping. (Source: Brain)
Source: Brain - September 5, 2019 Category: Neurology Source Type: research

PET-detectable tau pathology correlates with long-term neuropsychiatric outcomes in patients with traumatic brain injury
In conclusion, increased11C-PBB3 binding capacity is associated with late-onset neuropsychiatric symptoms following TBI, and a close correlation was found between psychosis and11C-PBB3 binding capacity in the white matter. (Source: Brain)
Source: Brain - September 2, 2019 Category: Neurology Source Type: research

Forward model deficits and enhanced motor noise in Tourette syndrome?
(Source: Brain)
Source: Brain - August 31, 2019 Category: Neurology Source Type: research

Reply: Forward model deficits and enhanced motor noise in Tourette syndrome?
(Source: Brain)
Source: Brain - August 31, 2019 Category: Neurology Source Type: research

Heterogeneous clinical and functional features of GRIN2D-related developmental and epileptic encephalopathy
AbstractN-methyld-aspartate receptors are ligand-gated ionotropic receptors mediating a slow, calcium-permeable component of excitatory synaptic transmission in the CNS. Variants in genes encoding NMDAR subunits have been associated with a spectrum of neurodevelopmental disorders. Here we report six novelGRIN2D variants and one previously-described disease-associatedGRIN2Dvariant in two patients with developmental and epileptic encephalopathy.GRIN2Dencodes for the GluN2D subunit protein; the GluN2D amino acids affected by the variants in this report are located in the pre-M1 helix, transmembrane domain M3, and the intracel...
Source: Brain - August 31, 2019 Category: Neurology Source Type: research

Traumatic axonal injury influences the cognitive effect of non-invasive brain stimulation
AbstractNon-invasive brain stimulation has been widely investigated as a potential treatment for a range of neurological and psychiatric conditions, including brain injury. However, the behavioural effects of brain stimulation are variable, for reasons that are poorly understood. This is a particular challenge for traumatic brain injury, where patterns of damage and their clinical effects are heterogeneous. Here we test the hypothesis that the response to transcranial direct current stimulation following traumatic brain injury is dependent on white matter damage within the stimulated network. We used a novel simultaneous s...
Source: Brain - August 30, 2019 Category: Neurology Source Type: research

Caudate stimulation enhances learning
AbstractNeuromodulation is a promising treatment modality for disorders of learning and memory, offering the possibility of precise alteration of disordered neural circuits. Studies to date have failed to identify an optimal target and stimulation paradigm. Six epilepsy patients with depth electrodes implanted for seizure localization participated in our study. We recorded local field potentials from implanted electrodes while subjects participated in an associative learning task requiring them to learn an association between presented images and a button press. Three subjects participated in stimulation sessions during wh...
Source: Brain - August 30, 2019 Category: Neurology Source Type: research

KCNT1 epilepsy with migrating focal seizures shows a temporal sequence with poor outcome, high mortality and SUDEP
AbstractEpilepsy of infancy with migrating focal seizures was first described in 1995. Fifteen years later,KCNT1 gene mutations were identified as the major disease-causing gene of this disease. Currently, the data on epilepsy of infancy with migrating focal seizures associated withKCNT1 mutations are heterogeneous and many questions remain unanswered including the prognosis and the long-term outcome especially regarding epilepsy, neurological and developmental status and the presence of microcephaly. The aim of this study was to assess data from patients with epilepsy in infancy with migrating focal seizures withKCNT1 mut...
Source: Brain - August 29, 2019 Category: Neurology Source Type: research

Time to test antibacterial therapy in Alzheimer ’s disease
AbstractAlzheimer ’s disease is associated with cerebral accumulation of amyloid-β peptide and hyperphosphorylated tau. In the past 28 years, huge efforts have been made in attempting to treat the disease by reducing brain accumulation of amyloid-β in patients with Alzheimer’s disease, with no success. While an ti-amyloid-β therapies continue to be tested in prodromal patients with Alzheimer’s disease and in subjects at risk of developing Alzheimer’s disease, there is an urgent need to provide therapeutic support to patients with established Alzheimer’s disease for whom current ...
Source: Brain - August 29, 2019 Category: Neurology Source Type: research

Inclusion body myositis: accumulation of evidence for its autoimmune origin
This scientific commentary refers to ‘Highly differentiated cytotoxic T cells in inclusion body myositis’, by Greenberget al. (doi:10.1093/brain/awz207). (Source: Brain)
Source: Brain - August 29, 2019 Category: Neurology Source Type: research

The art of making a clinical diagnosis of multiple system atrophy
This scientific commentary refers to ‘Improving diagnostic accuracy of multiple system atrophy: a clinicopathological study’ by Mikiet al. (doi:10.1093/brain/awz189). (Source: Brain)
Source: Brain - August 29, 2019 Category: Neurology Source Type: research

The dark side of the moon: looking beyond beneficial effects of cannabis use in multiple sclerosis
This scientific commentary refers to ‘Coming off cannabis: a cognitive and magnetic resonance imaging study in patients with multiple sclerosis’, by Feinsteinet al. (doi:10.1093/brain/awz213). (Source: Brain)
Source: Brain - August 29, 2019 Category: Neurology Source Type: research

Editorial
This issue ofBrain features a review by Michael Zandi ofEncephalitis Lethargica: The Mind and Brain Virus by Paul Bernard Foley, which, at over 1000 pages, must be the most comprehensive account to date of the mysterious epidemic that emerged during World War I. This review appears almost exactly 100 years after an article inBrain entitled ‘Lethargic encephalitis; its sequelæ and morbid anatomy’ by E. Farquhar Buzzard and J. Godwin Greenfield (although included in Volume 42, the final issue was delayed until January 1920). The histopathological examination in five of the cases described by Buzzard and Gre...
Source: Brain - August 29, 2019 Category: Neurology Source Type: research

Is cytoplasmic FUS a feature of all ALS?
This scientific commentary refers to ‘Widespread FUS mislocalization is a molecular hallmark of amyotrophic lateral sclerosis’ by Tyzacket al. (doi:10.1093/brain/awz217). (Source: Brain)
Source: Brain - August 29, 2019 Category: Neurology Source Type: research

Chronic white matter lesion activity predicts clinical progression in primary progressive multiple sclerosis
AbstractChronic active and slowly expanding lesions with smouldering inflammation are neuropathological correlates of progressive multiple sclerosis pathology. T1 hypointense volume and signal intensity on T1-weighted MRI reflect brain tissue damage that may develop within newly formed acute focal inflammatory lesions or in chronic pre-existing lesions without signs of acute inflammation. Using a recently developed method to identify slowly expanding/evolving lesionsin vivo from longitudinal conventional T2- and T1-weighted brain MRI scans, we measured the relative amount of chronic lesion activity as measured by change in...
Source: Brain - August 28, 2019 Category: Neurology Source Type: research

Transcriptome analysis in patients with temporal lobe epilepsy
(Source: Brain)
Source: Brain - August 26, 2019 Category: Neurology Source Type: research

Imidazoline 2 binding sites reflecting astroglia pathology in Parkinson ’s disease: an in vivo11C-BU99008 PET study
AbstractAstroglia are multifunctional cells that regulate neuroinflammation and maintain homeostasis within the brain. Astroglial α-synuclein-positive cytoplasmic accumulations have been shown post-mortem in patients with Parkinson’s disease and therefore astroglia may play an important role in the initiation and progression of Parkinson’s disease. Imidazoline 2 binding sites are expressed on activated astroglia in the co rtex, hippocampus, basal ganglia and brainstem; therefore, by measuring imidazoline 2 binding site levels we can indirectly evaluate astrogliosis in patients with Parkinson’s disea...
Source: Brain - August 26, 2019 Category: Neurology Source Type: research

CSF1R inhibitor JNJ-40346527 attenuates microglial proliferation and neurodegeneration in P301S mice
In this study, we tested the eff icacy of the selective CSF1R inhibitor JNJ-40346527 (JNJ-527) in the P301S mouse tauopathy model. We first demonstrated the anti-proliferative effects of JNJ-527 on microglia in the ME7 prion model, and its impact on the inflammatory profile, and provided potential CNS biomarkers for clinical invest igation with the compound, including pharmacokinetic/pharmacodynamics and efficacy assessment by TSPO autoradiography and CSF proteomics. Then, we showed for the first time that blockade of microglial proliferation and modification of microglial phenotype leads to an attenuation of tau-induced n...
Source: Brain - August 26, 2019 Category: Neurology Source Type: research

Impaired D2 receptor-dependent dopaminergic transmission in prefrontal cortex of awake mouse model of Parkinson ’s disease
AbstractThe loss-of-function mutation inPARK7/DJ-1 is one of the most common causes of autosomal recessive Parkinson ’s disease, and patients carryingPARK7 mutations often exhibit both a progressive movement disorder and emotional impairment, such as anxiety. However, the causes of the emotional symptom accompanyingPARK7-associated and other forms of Parkinson ’s disease remain largely unexplored. Using two-photon microscopic Ca2+ imaging in awakePARK7−/− andPARK7+/+ mice, we found that (i)PARK7−/− neurons in the frontal association cortex showed substantially higher circuit activity rec...
Source: Brain - August 26, 2019 Category: Neurology Source Type: research

Burst suppression uncovers rapid widespread alterations in network excitability caused by an acute seizure focus
AbstractBurst suppression is an electroencephalogram pattern of globally symmetric alternating high amplitude activity and isoelectricity that can be induced by general anaesthetics. There is scattered evidence that burst suppression may become spatially non-uniform in the setting of underlying pathology. Here, we induced burst suppression with isoflurane in rodents and then created a neocortical acute seizure focus with injection of 4-aminopyridine (4-AP) in somatosensory cortex. Burst suppression events were recorded before and after creation of the focus using bihemispheric wide-field calcium imaging and multielectrode ...
Source: Brain - August 22, 2019 Category: Neurology Source Type: research

Synaptic clustering differences due to different GABRB3 mutations cause variable epilepsy syndromes
In this study we found that surface expression of mutant β3 subunits is variable. However, it was consistent that surface expression of partnering γ2 subunits was lower when co-expressed with mutant than with wild-type subunits. Because γ2 subunits are critical for synaptic GABAA receptor clustering, this provides an important clue for understanding the pathophysiology ofGABRB3 mutations. To validate our findings further, we obtained an in-depth comparison of two novel mutations [GABRB3 (N328D) andGABRB3 (E357K)] associated with epilepsy with different severities of epilepsy phenotype.GABRB3 (N328D) is ass...
Source: Brain - August 21, 2019 Category: Neurology Source Type: research

Genome-wide association study of cerebral small vessel disease reveals established and novel loci
AbstractIntracerebral haemorrhage and small vessel ischaemic stroke (SVS) are the most acute manifestations of cerebral small vessel disease, with no established preventive approaches beyond hypertension management. Combined genome-wide association study (GWAS) of these two correlated diseases may improve statistical power to detect novel genetic factors for cerebral small vessel disease, elucidating underlying disease mechanisms that may form the basis for future treatments. Because intracerebral haemorrhage location is an adequate surrogate for distinct histopathological variants of cerebral small vessel disease (lobar f...
Source: Brain - August 20, 2019 Category: Neurology Source Type: research

Deep brain stimulation induced normalization of the human functional connectome in Parkinson ’s disease
AbstractNeuroimaging has seen a paradigm shift away from a formal description of local activity patterns towards studying distributed brain networks. The recently defined framework of the ‘human connectome’ enables global analysis of parts of the brain and their interconnections. Deep brain stimulation (DBS) is an invasive therapy for patients with severe movement disorders aiming to retune abnormal brain network activity by local high frequency stimulation of the basal ganglia. Beyond clinical utility, DBS represents a powerful research platform to study functional connectomics and the modulation of distribute...
Source: Brain - August 14, 2019 Category: Neurology Source Type: research

Agenesis of the putamen and globus pallidus caused by recessive mutations in the homeobox gene GSX2
AbstractBasal ganglia are subcortical grey nuclei that play essential roles in controlling voluntary movements, cognition and emotion. While basal ganglia dysfunction is observed in many neurodegenerative or metabolic disorders, congenital malformations are rare. In particular, dysplastic basal ganglia are part of the malformative spectrum of tubulinopathies and X-linked lissencephaly with abnormal genitalia, but neurodevelopmental syndromes characterized by basal ganglia agenesis are not known to date. We ascertained two unrelated children (both female) presenting with spastic tetraparesis, severe generalized dystonia and...
Source: Brain - August 14, 2019 Category: Neurology Source Type: research

MicroRNA-223 protects neurons from degeneration in experimental autoimmune encephalomyelitis
AbstractMultiple sclerosis is a chronic inflammatory, demyelinating, and neurodegenerative disease affecting the brain, spinal cord and optic nerves. Neuronal damage is triggered by various harmful factors that engage diverse signalling cascades in neurons; thus, therapeutic approaches to protect neurons will need to focus on agents that can target multiple biological processes. We have therefore focused our attention on microRNAs: small non-coding RNAs that primarily function as post-transcriptional regulators that target messenger RNAs and repress their translation into proteins. A single microRNA can target many functio...
Source: Brain - August 14, 2019 Category: Neurology Source Type: research

Dysregulated oscillatory connectivity in the visual system in autism spectrum disorder
AbstractAutism spectrum disorder is increasingly associated with atypical perceptual and sensory symptoms. Here we explore the hypothesis that aberrant sensory processing in autism spectrum disorder could be linked to atypical intra- (local) and interregional (global) brain connectivity. To elucidate oscillatory dynamics and connectivity in the visual domain we used magnetoencephalography and a simple visual grating paradigm with a group of 18 adolescent autistic participants and 18 typically developing control subjects. Both groups showed similar increases in gamma (40 –80 Hz) and decreases in alpha (8–13 Hz) ...
Source: Brain - August 13, 2019 Category: Neurology Source Type: research

Connectivity profile of thalamic deep brain stimulation to effectively treat essential tremor
AbstractEssential tremor is the most prevalent movement disorder and is often refractory to medical treatment. Deep brain stimulation offers a therapeutic approach that can efficiently control tremor symptoms. Several deep brain stimulation targets (ventral intermediate nucleus, zona incerta, posterior subthalamic area) have been discussed for tremor treatment. Effective deep brain stimulation therapy for tremor critically involves optimal targeting to modulate the tremor network. This could potentially become more robust and precise by using state-of-the-art brain connectivity measurements. In the current study, we used t...
Source: Brain - August 3, 2019 Category: Neurology Source Type: research

Magnetoencephalography for epileptic focus localization in a series of 1000 cases
We present results from a retrospective observational cohort study of 1000 patients, evaluated using magnetoencephalography at the University Hospital Erlangen over the time span of 28 years. One thousand consecutive cases were included in the study, evaluated at the University Hospital Erlangen between 1990 and 2018. All patients underwent magnetoencephalography as part of clinical workup for epilepsy surgery. Of these, 405 underwent epilepsy surgery after magnetoencephalography, with postsurgical follow-ups of up to 20 years. Sensitivity for interictal epileptic activity was evaluated, in addition to concordance of local...
Source: Brain - August 2, 2019 Category: Neurology Source Type: research

Widespread FUS mislocalization is a molecular hallmark of amyotrophic lateral sclerosis
We report nuclear-to-cytoplasmic mislocalization of FUS in both VCP-mutation related ALS and, crucially, in sporadic ALS spinal cord tissue from multiple cases. Furthermore, we provide evidence that FUS protein binds to an aberrantly retained intron within the SFPQ transcript, which is exported from the nucleus into the cytoplasm. Collectively, these data support a model for ALS pathogenesis whereby aberrant intron retention in SFPQ transcripts contributes to FUS mislocalization through their direct interaction and nuclear export. In summary, we report widespread mislocalization of the FUS protein in ALS and propose a puta...
Source: Brain - August 1, 2019 Category: Neurology Source Type: research

Increased translation as a novel pathogenic mechanism in Huntington ’s disease
In conclusion, our results indicate that dysregulation of protein synthesis is involved in mutant huntingtin-induced striatal neuron dysfunction. (Source: Brain)
Source: Brain - July 31, 2019 Category: Neurology Source Type: research

Abnormal hippocampal structure and function in juvenile myoclonic epilepsy and unaffected siblings
AbstractJuvenile myoclonic epilepsy is the most common genetic generalized epilepsy syndrome, characterized by a complex polygenetic aetiology. Structural and functional MRI studies demonstrated mesial or lateral frontal cortical derangements and impaired fronto-cortico-subcortical connectivity in patients and their unaffected siblings. The presence of hippocampal abnormalities and associated memory deficits is controversial, and functional MRI studies in juvenile myoclonic epilepsy have not tested hippocampal activation. In this observational study, we implemented multi-modal MRI and neuropsychological data to investigate...
Source: Brain - July 31, 2019 Category: Neurology Source Type: research

Patterns of retrograde axonal degeneration in the visual system
This study aimed to overcome the limitations of previous human studies, namely pathology to the anterior visual pathways and neurodegenerative co-morbidity. In this prospective, longitudinal cohort retinal optical coherence tomography scans were acquired before and after elective partial temporal lobe resection in 25 patients for intractable epilepsy. Newly developed region of interest-specific, retinotopic areas substantially improved on conventional reported early treatment diabetic retinopathy study (ETDRS) grid-based optical coherence tomography data. Significant inner retinal layer atrophy separated patients with norm...
Source: Brain - July 30, 2019 Category: Neurology Source Type: research

Coming off cannabis: a cognitive and magnetic resonance imaging study in patients with multiple sclerosis
AbstractCognitive dysfunction affects 40 –80% of patients with multiple sclerosis. Smoking cannabis may add to these deficits. It is unclear whether coming off cannabis results in cognitive improvement. To address this question, 40 patients with multiple sclerosis who started using cannabis after the onset of multiple sclerosis and who u sed it for at least 4 days a week over many years were divided by odd-even number selection into two groups: cannabis continuation and cannabis withdrawal. Assessments took place at baseline and after 28 days and included serial versions of the Brief Repeatable Neuropsychological Bat...
Source: Brain - July 30, 2019 Category: Neurology Source Type: research

Circuit-based interventions in the dentate gyrus rescue epilepsy-associated cognitive dysfunction
We examined whether normalizing epilepsy-associated granule cell hyperexcitability—without correcting the underlying structural circuit di sruptions—would constitute an effective therapeutic approach for cognitive dysfunction. In the systemic pilocarpine mouse model of temporal lobe epilepsy, the epileptic dentate gyrus excessively recruits granule cells in behavioural contexts, not just during seizure events, and these mice fail to perform on a dentate-mediated spatial discrimination task. Acutely reducing dorsal granule cell hyperactivity in chronically epileptic mice via either of two distinct inhibitory che...
Source: Brain - July 30, 2019 Category: Neurology Source Type: research

Corrigendum
Shun-Chang Sun, Di Ma, Mei-Yi Li, Ru-Xu Zhang, Cheng Huang, Hua-Jie Huang, Yong-zhi Xie, Zhong-Ju Wang, Jun Liu, De-Cheng Cai, Cui-Xian Liu, Qi Yang, Fei-Xiang Bao, Xiao-Li Gong, Jie-Ru Li, Zheng Hui, Xiao-feng Wei, Jian-Mei Zhong, Wan-jun Zhou, Xuan Shang, Cheng Zhang, Xing-Guo Liu, Bei-Sha Tang, Fu Xiong and Xiang-Min Xu. Mutations inC1orf194, encoding a calcium regulator, cause dominant Charcot-Marie-Tooth disease. Brain 2019; 142: 2215 –2229. doi:10.1093/brain/awz151. (Source: Brain)
Source: Brain - July 29, 2019 Category: Neurology Source Type: research

Regional transcriptional architecture of Parkinson ’s disease pathogenesis and network spread
AbstractAlthough a significant genetic contribution to the risk of developing sporadic Parkinson ’s disease has been well described, the relationship between local genetic factors, pathogenesis, and subsequent spread of pathology throughout the brain has been largely unexplained in humans. To address this question, we use network diffusion modelling to infer probable pathology seed regions an d patterns of disease spread from MRI atrophy maps derived from 232de novo subjects in the Parkinson ’s Progression Markers Initiative study. Allen Brain Atlas regional transcriptional profiles of 67 Parkinson’s dise...
Source: Brain - July 29, 2019 Category: Neurology Source Type: research

Encephalitis lethargica: a dying fall
(Source: Brain)
Source: Brain - July 29, 2019 Category: Neurology Source Type: research

LATE to the PART-y
(Source: Brain)
Source: Brain - July 29, 2019 Category: Neurology Source Type: research