A transvenous pressure gradient mechanism behind ventriculomegaly
I read with great interest the recent paper titled ‘A venous mechanism of ventriculomegaly shared between traumatic brain injury and normal ageing’ (Asoet al., 2020). In this paper the authors suggest that ventriculomegaly is correlated with a relative increase in the resistance to blood flow in the superficial venous system of the brain compared to a preserved drainage in the deep system. The authors state that there are many theories about how this may come about but ‘the exact mechanism remains to be clarified’. I believe my more recent investigations may shed some light upon this mechanism. (Source: Brain)
Source: Brain - September 18, 2020 Category: Neurology Source Type: research

Reply: A transvenous pressure gradient mechanism behind ventriculomegaly
We thank Dr Bateman for the positive feedback and providing updates on the topic to which he has made numerous contributions (Bateman, 2020). Our interpretation already owes a debt to them and we believe that those recent works, which we failed to cite in our discussion, should have provided a clear-cut mechanism of superficial venous insufficiency. It is indeed a highlight of our study that the observation using a very different methodology, i.e. extracting a perfusion information from resting state functional MRI data, fits with the scheme based on structural and phase-contrast flow imaging that Bateman and colleagues ha...
Source: Brain - September 18, 2020 Category: Neurology Source Type: research

Lost in sound: auditory perceptual abilities in neurodegenerative diseases
AbstractThis scientific commentary refers to ‘Impairments of auditory scene analysis in posterior cortical atrophy’, by Hardyet al. (doi:10.1093/brain/awaa221). (Source: Brain)
Source: Brain - September 18, 2020 Category: Neurology Source Type: research

Parkinson ’s disease progression in the substantia nigra: location, location, location
AbstractThis scientific commentary refers to ‘Spatiotemporal changes in substantia nigra neuromelanin content in Parkinson’s disease’, by Biondettiet al. (doi:10.1093/brain/awaa216 (Source: Brain)
Source: Brain - September 18, 2020 Category: Neurology Source Type: research

‘Moving genes’: how dystonia genes functionally converge on the transcriptome
AbstractThis scientific commentary refers to ‘Dystonia genes functionally converge in specific neurons and share neurobiology with psychiatric disorders’, by Mencacciet al. (doi:10.1093/brain/awaa217). (Source: Brain)
Source: Brain - September 18, 2020 Category: Neurology Source Type: research

Timing is everything: tau imaging across stages of Alzheimer ’s disease
AbstractThis scientific commentary refers to ‘18F-MK-6240 PET for early and late detection of neurofibrillary tangles ’, by Pascoalet al. (doi:10.1093/brain/awaa180). (Source: Brain)
Source: Brain - September 18, 2020 Category: Neurology Source Type: research

Delay from treatment start to full effect of immunotherapies for multiple sclerosis
In conclusion we have developed, and externally validated, a method to objectively quantify the duration of therapeutic lag on relapses and disability progres sion in different therapies in patients more than 3 years from multiple sclerosis onset. Objectively defined periods of expected therapeutic lag allows insights into the evaluation of treatment response in randomized clinical trials and may guide clinical decision-making in patients who experience e arly on-treatment disease activity. This method will subsequently be applied in studies that evaluate the effect of patient and disease characteristics on therapeutic lag. (Source: Brain)
Source: Brain - September 18, 2020 Category: Neurology Source Type: research

Editorial
The Dorsal Column of this issue ofBrain features a perspective by Bart Lutters and Peter Koehler that looks back at the history of cisterna magna puncture, a procedure that was first described in detail by James Bourne Ayer in 1920. They point out that adoption of the technique was driven, to a great extent, by the goal of delivering therapeutic agents directly to the CNS, and that its popularity waned as antibiotics that could be administered intramuscularly or intravenously replaced intrathecal anti-meningococcal serum, arsphenamine and ‘salvarsanized’ serum (a cocktail of arsphenamine and the patient’s...
Source: Brain - September 18, 2020 Category: Neurology Source Type: research

New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy
This study reports clinical, genetic and protein data of a large European cohort of patients with sarcoglycanopathy. Improving our knowledge about these extremely rare autosomal recessive forms of LGMD was helped by a collaborative effort of neuromuscular centres across Europe. Our study provides important data on the genotype-phenotype correlation that is relevant for the design of natural history studies and upcoming interventional trials in sarcoglycanopathies. (Source: Brain)
Source: Brain - September 1, 2020 Category: Neurology Source Type: research

Impairments of auditory scene analysis in posterior cortical atrophy
AbstractAlthough posterior cortical atrophy is often regarded as the canonical ‘visual dementia’, auditory symptoms may also be salient in this disorder. Patients often report particular difficulty hearing in busy environments; however, the core cognitive process—parsing of the auditory environment (‘auditory scene analysis’)—has been poorly characterized. In this cross-sectional study, we used customized perceptual tasks to assess two generic cognitive operations underpinning auditory scene analysis—sound source segregation and sound event grouping—in a cohort of 21 patients...
Source: Brain - September 1, 2020 Category: Neurology Source Type: research

Spatiotemporal changes in substantia nigra neuromelanin content in Parkinson ’s disease
In conclusion, neuromelanin-sensitive MRI enabled us to assess voxel-wise modifications of substantia nigra’s morphologyin vivo in humans, including healthy controls, patients with iRBD and patients with Parkinson ’s disease, and identify their correlation with nigral function across all motor, cognitive and behavioural domains. This insight could help assess disease progression in drug trials of disease modification. (Source: Brain)
Source: Brain - August 28, 2020 Category: Neurology Source Type: research

A M āori specific RFC1 pathogenic repeat configuration in CANVAS, likely due to a founder allele
AbstractCerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (CANVAS) is a recently recognized neurodegenerative disease with onset in mid- to late adulthood. The genetic basis for a large proportion of Caucasian patients was recently shown to be the biallelic expansion of a pentanucleotide (AAGGG)n repeat inRFC1. Here, we describe the first instance of CANVAS genetic testing in New Zealand M āori and Cook Island Māori individuals. We show a novel, possibly population-specific CANVAS configuration (AAAGG)10-25(AAGGG)exp, which was the cause of CANVAS in all patients. There were no apparent phenot...
Source: Brain - August 27, 2020 Category: Neurology Source Type: research

Hippocampus co-atrophy pattern in dementia deviates from covariance patterns across the lifespan
We examined the pattern of structural covariance of hippocampus voxels in young, middle-aged, elderly, mild cognitive impairment and dementia disease samples by applying a clustering algorithm revealing differentiation in structural covariance within the hippocampus. In all the healthy and in the mild cognitive impaired participants, the hippocampus was robustly divided into anterior, lateral and medial subregions reminiscent of cytoarchitectonic division. In contrast, in dementia patients, the pattern of subdivision was closer to known functional differentiation into an anterior, body and tail subregions. These results no...
Source: Brain - August 27, 2020 Category: Neurology Source Type: research

A road less travelled: the centenary of cisterna magna puncture
(Source: Brain)
Source: Brain - August 25, 2020 Category: Neurology Source Type: research

Limbic-predominant age-related TDP-43 encephalopathy differs from frontotemporal lobar degeneration
AbstractTAR-DNA binding protein-43 (TDP-43) proteinopathy is seen in multiple brain diseases. A standardized terminology was recommended recently for common age-related TDP-43 proteinopathy: limbic-predominant, age-related TDP-43 encephalopathy (LATE) and the underlying neuropathological changes, LATE-NC. LATE-NC may be co-morbid with Alzheimer ’s disease neuropathological changes (ADNC). However, there currently are ill-defined diagnostic classification issues among LATE-NC, ADNC, and frontotemporal lobar degeneration with TDP-43 (FTLD-TDP). A practical challenge is that different autopsy cohorts are composed of dis...
Source: Brain - August 24, 2020 Category: Neurology Source Type: research

A clinical-radiological framework of the right temporal variant of frontotemporal dementia
AbstractThe concept of the right temporal variant of frontotemporal dementia (rtvFTD) is still equivocal. The syndrome accompanying predominant right anterior temporal atrophy has previously been described as memory loss, prosopagnosia, getting lost and behavioural changes. Accurate detection is challenging, as the clinical syndrome might be confused with either behavioural variant FTD (bvFTD) or Alzheimer ’s disease. Furthermore, based on neuroimaging features, the syndrome has been considered a right-sided variant of semantic variant primary progressive aphasia (svPPA). Therefore, we aimed to demarcate the clinical...
Source: Brain - August 24, 2020 Category: Neurology Source Type: research

Allosteric modulation of NMDA receptors prevents the antibody effects of patients with anti-NMDAR encephalitis
AbstractAnti-N-methyl-d-aspartate receptor (NMDAR) encephalitis is an immune-mediated disease characterized by a complex neuropsychiatric syndrome in association with an antibody-mediated decrease of NMDAR. About 85% of patients respond to immunotherapy (and removal of an associated tumour if it applies), but it often takes several months or more than 1 year for patients to recover. There are no complementary treatments, beyond immunotherapy, to accelerate this recovery. Previous studies showed that SGE-301, a synthetic analogue of 24(S)-hydroxycholesterol, which is a potent and selective positive allosteric modulator of N...
Source: Brain - August 24, 2020 Category: Neurology Source Type: research

Reply: Expanding the clinical and genetic spectrum of PCYT2-related disorders
We read the letter byV élez-Santamaríaet al. (2020) describing two new cases ofPCYT2 deficiency with great interest. We recently described, for the first time, a new form of complex hereditary spastic paraplegia (HSP) caused by CTP: phosphoethanolamine cytidylyltransferase deficiency (Vazet al., 2019). CTP: phosphoethanolamine cytidylyltransferase, encoded byPCYT2, is the rate-limiting enzyme of the CDP-ethanolamine pathway and is involved in the synthesis of phosphatidylethanolamine and related ether lipid analogues.PCYT2 deficiency is now indexed in OMIM as spastic paraplegia type 82 (MIM 618770). (Source: Brain)
Source: Brain - August 21, 2020 Category: Neurology Source Type: research

Expanding the clinical and genetic spectrum of PCYT2-related disorders
Recently, Vazet al. reported four families with complex hereditary spastic paraplegia (cHSP) and biallelic variants inPCYT2 encoding CTP: phosphoethanolamine cytidylyltransferase (ET), the rate-limiting enzyme for phosphatidylethanolamine biosynthesis. Patient-derived fibroblasts and plasma had significant abnormalities in both neutral etherlipid and etherphospholipid metabolism (Vazet al., 2019). We wish to broaden the phenotypic and genetic spectrum ofPCYT2-related disorders with two additional patients. Clinical features are detailed inTable  1. (Source: Brain)
Source: Brain - August 21, 2020 Category: Neurology Source Type: research

Dystonia genes functionally converge in specific neurons and share neurobiology with psychiatric disorders
In conclusion, multiple dystonia-associated genes interact and contribute to pathogenesis likely through dysregulation of synaptic signalling in striatal medium spiny neurons, adult nigral dopaminergic neurons and frontal cortical neurons. Furthermore, the enrichment of the heritability of psychiatric disorders in the co-expression modules enriched for dystonia-associated genes indicates that psychiatric symptoms associated with dystonia are likely to be intrinsic to its pathophysiology. (Source: Brain)
Source: Brain - August 21, 2020 Category: Neurology Source Type: research

Connexins in neuromyelitis optica: a link between astrocytopathy and demyelination
AbstractNeuromyelitis optica, a rare neuroinflammatory demyelinating disease of the CNS, is characterized by the presence of specific pathogenic autoantibodies directed against the astrocytic water channel aquaporin 4 (AQP4) and is now considered as an astrocytopathy associated either with complement-dependent astrocyte death or with astrocyte dysfunction. However, the link between astrocyte dysfunction and demyelination remains unclear. We propose glial intercellular communication, supported by connexin hemichannels and gap junctions, to be involved in demyelination process in neuromyelitis optica. Using mature myelinated...
Source: Brain - August 21, 2020 Category: Neurology Source Type: research

Phosphorylated tau interactome in the human Alzheimer ’s disease brain
AbstractAccumulation of phosphorylated tau is a key pathological feature of Alzheimer ’s disease. Phosphorylated tau accumulation causes synaptic impairment, neuronal dysfunction and formation of neurofibrillary tangles. The pathological actions of phosphorylated tau are mediated by surrounding neuronal proteins; however, a comprehensive understanding of the proteins that phosphory lated tau interacts with in Alzheimer’s disease is surprisingly limited. Therefore, the aim of this study was to determine the phosphorylated tau interactome. To this end, we used two complementary proteomics approaches: (i) quantita...
Source: Brain - August 19, 2020 Category: Neurology Source Type: research

Differential medication overuse risk of novel anti-migraine therapeutics
AbstractMedication overuse headache is estimated to affect 2% of the population, and is ranked in the top 20 most disabling disorders due to its high level of disability. Several therapies used in the treatment of acute migraine are thought to be associated with medication overuse headache, including opioids and triptans. With limited treatment options, it is critical to determine the risk profile of novel therapies prior to their widespread use. The current study explores the potential medication overuse risk of two novel therapeutic drug classes, namely the ditans: 5-HT1F receptor agonists, and the gepants: calcitonin ge...
Source: Brain - August 18, 2020 Category: Neurology Source Type: research

Improved relapse recovery in paediatric compared to adult multiple sclerosis
AbstractIncomplete relapse recovery contributes to disability accrual and earlier onset of secondary progressive multiple sclerosis. We sought to investigate the effect of age on relapse recovery. We identified patients with multiple sclerosis from two longitudinal prospective studies, with an Expanded Disability Status Scale (EDSS) score within 30 days after onset of an attack, and follow-up EDSS 6 months after attack. Adult patients with multiple sclerosis (n  = 632) were identified from the Comprehensive Longitudinal Investigations in Multiple Sclerosis at Brigham study (CLIMB), and paediatric patients (n ...
Source: Brain - August 18, 2020 Category: Neurology Source Type: research

Reply: Saposin D variants are not a common cause of familial Parkinson ’s disease among Italians; and Lack of evidence for genetic association of saposins A, B, C and D with Parkinson’s disease
We reported three pathogenicPSAP mutations (c.1358A>C, p.Q453P; c.1431G>A, p.C451_L477del; and c.1235G>A, p.C412Y) for Japanese patients with autosomal dominant Parkinson ’s disease (Ojiet al., 2020). Three carriers of the p.Q453P variant in Family 1 did not have Parkinson ’s disease, which implicated thatPSAP variants that contributed to Parkinson ’s disease risk possibly have only a modest effect. We additionally performed whole-exome sequencing, which did not reveal any previously identified Parkinson’s disease-causing mutations (Ojiet al., 2020). Interestingly, the c.1431G>A variant ...
Source: Brain - August 13, 2020 Category: Neurology Source Type: research

Saposin D variants are not a common cause of familial Parkinson ’s disease among Italians
We read with great interest the work byOjiet al. (2020) entitled ‘Variants in saposin D domain of prosaposin gene linked to Parkinson’s disease’, as we were also undertaking a genetic screening of the saposin D domain of prosaposin gene (PSAP). Saposins act as cofactors for different lysosomal hydroxylases, promoting their catalytic activity (Kishimotoet al., 1992). To date, it is widely accepted that the lysosomal pathway plays a pivotal role in neuron homeostasis and, in turn, that its impairment is a major pathogenic event in neurodegenerative diseases, including Parkinson ’s disease (Dehayet al....
Source: Brain - August 13, 2020 Category: Neurology Source Type: research

Lack of evidence for genetic association of saposins A, B, C and D with Parkinson ’s disease
We read with much interest the paper byOjiet al. (2020), which suggested an association between mutations in the saposin D region ofPSAP and Parkinson ’s disease. In their paper, the authors showed that variants in saposin D only partially segregate with Parkinson’s disease in three families of Japanese origin. For example, in Family 1, at least three carriers of thePSAP p.Q453P variant did not have Parkinson ’s disease, including one of the parents who was an obligate carrier. The authors also report an association of six common intronic variants within the saposin D region of the gene when comparing Jap...
Source: Brain - August 13, 2020 Category: Neurology Source Type: research

Corrigendum to: Targeting Gpr52 lowers mutant HTT levels and rescues Huntington ’s disease-associated phenotypes
Haikun Song, Hexuan Li, Shimeng Guo, Yuyin Pan, Yuhua Fu, Zijian Zhou, Zhaoyang Li, Xue Wen, Xiaoli Sun, Bingqing He, Haifeng Gu, Quan Zhao, Cen Wang, Ping An, Shouqing Luo, Youhong Hu, Xin Xie, Boxun Lu. Targeting Gpr52 lowers mutant HTT levels and rescues Huntington ’s disease-associated phenotypes. Brain 2018; 141: 1782–1798. doi:10.1093/brain/awy081. (Source: Brain)
Source: Brain - August 3, 2020 Category: Neurology Source Type: research

The apparently milder course of multiple sclerosis: changes in the diagnostic criteria, therapy and natural history
In conclusion, during the past decade the entire course of multiple sclerosis from the first sign of a demyelinating disorder through the progressive course appears to be milder due to a complex interplay of several factors. (Source: Brain)
Source: Brain - July 24, 2020 Category: Neurology Source Type: research

18F-MK-6240 PET for early and late detection of neurofibrillary tangles
AbstractBraak stages of tau neurofibrillary tangle accumulation have been incorporated in the criteria for the neuropathological diagnosis of Alzheimer ’s disease. It is expected that Braak staging using brain imaging can stratify living individuals according to their individual patterns of tau deposition, which may prove crucial for clinical trials and practice. However, previous studies using the first-generation tau PET agents have shown a low sensitivity to detect tau pathology in areas corresponding to early Braak histopathological stages (∼20% of cognitively unimpaired elderly with tau deposition in regions...
Source: Brain - July 16, 2020 Category: Neurology Source Type: research

Erratum to: Reply: Novel GDAP2 pathogenic variants cause autosomal recessive spinocerebellar ataxia-27 (SCAR27) in a Chinese family
Ilse Eidhof, Jonathan Baets, Erik-Jan Kamsteeg, Annette Schenck, Bart P. van de Warrenburg. Reply: NovelGDAP2 pathogenic variants cause autosomal recessive spinocerebellar ataxia-27 (SCAR27) in a Chinese family. Brain 2020; 143: e51.https://doi.org.10.1093/brain/awaa122. (Source: Brain)
Source: Brain - July 13, 2020 Category: Neurology Source Type: research

Advanced MRI techniques for transcranial high intensity focused ultrasound targeting
AbstractMagnetic resonance guided high intensity focused ultrasound is a novel, non-invasive, image-guided procedure that is able to ablate intracranial tissue with submillimetre precision. It is currently FDA approved for essential tremor and tremor dominant Parkinson ’s disease. The aim of this update is to review the limitations of current landmark-based targeting techniques of the ventral intermediate nucleus and demonstrate the role of emerging imaging techniques that are relevant for both magnetic resonance guided high intensity focused ultrasound and deep brain stimulation. A significant limitation of standard...
Source: Brain - June 15, 2020 Category: Neurology Source Type: research

Unravelling the enigma of cortical tremor and other forms of cortical myoclonus
AbstractCortical tremor is a fine rhythmic oscillation involving distal upper limbs, linked to increased sensorimotor cortex excitability, as seen in cortical myoclonus. Cortical tremor is the hallmark feature of autosomal dominant familial cortical myoclonic tremor and epilepsy (FCMTE), a syndrome not yet officially recognized and characterized by clinical and genetic heterogeneity. Non-coding repeat expansions in different genes have been recently recognized to play an essential role in its pathogenesis. Cortical tremor is considered a rhythmic variant of cortical myoclonus and is part of the ‘spectrum of cortical ...
Source: Brain - May 17, 2020 Category: Neurology Source Type: research

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