Faculty Bibliography
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Department/Unit:Neurology
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24496
The Cannon-Marañón Correspondence and the Autonomic Physiology of Emotion (1919-1936) [Historical Article]
Between 1919 and 1936, American physiologist Walter B. Cannon and Spanish physician Gregorio Marañón engaged in a sustained transatlantic correspondence that shed light on emerging ideas about the physiologic basis of emotion. Drawing on letters preserved at Harvard's Countway Library of Medicine and the Fundación Ortega-Marañón in Madrid, we examine how their dialogue bridged experimental physiology and clinical neuroendocrinology during a formative era in modern neuroscience. Cannon, widely known for introducing the concepts of "homeostasis" and the "fight-or-flight" response, saw in Marañón's clinical observations a compelling complement to his laboratory findings. In particular, Cannon repeatedly cited Marañón's work on the emotional effects of adrenaline, which distinguished between purely physiologic visceral reactions without subjective emotion ("cold emotion") and full subjective emotional states ("hot emotion"). This nuanced differentiation anticipated later cognitive and constructivist theories of emotion. Their exchange helped shape foundational concepts in affective and autonomic neuroscience by linking internal affective states to neuroendocrine mechanisms and observable bodily responses. These ideas would later cohere in Cannon's The Wisdom of the Body (1932), where traces of their correspondence are evident. Beyond their scientific importance, the Cannon-Marañón letters offer a rare window into the international and interdisciplinary networks that shaped biomedical thought in the early 20th century. It also reflects broader commitments because both men had a relevant political involvement. By recovering this epistolary exchange, we shed light on an overlooked chapter in the history of neuroscience and the enduring value of scientific dialogue.
PMID: 40694794
ISSN: 1526-632x
CID: 5901462
Neurology Practice Today and Tomorrow: The Path Forward
PMID: 40701187
ISSN: 1098-9021
CID: 5901662
Deep Phenotyping of Musicians' Upper Limb Dystonia
BACKGROUND/UNASSIGNED:Focal task-specific dystonia of the musicians' arm (FTSDma) is an unusual and challenging disorder, often causing significant disability with loss of performing careers. The etiology and optimal management of this disorder remains unclear. METHODS/UNASSIGNED:We reviewed records and videos of 173 patients with FTSDma, 50 patients with writer's cramp (WC), and 16 with other forms of arm dystonia (OD), evaluated by a single examiner in clinical practice over a 25-year period. Detailed analysis of clinical features and videotaped examinations in slow motion (what we call "deep phenotyping") allowed separation of patients into four categories: "precision-grip" dystonia (groups I and III); "power-grip" dystonia (group II); and "proximal dystonia" (group IV). We compared these results to deep phenotyping of patients with FTSDma, WC and OD patients reported in the literature. RESULTS/UNASSIGNED:FTSDma usually affects men, involves the right hand, and begins in the fourth decade. The precision hand of pianists and guitarists (digits 1, 2, 3) was preferentially affected in the right arm, and many of the remaining patients involved the power hand of either arm (digits 3, 4, 5). The dystonic phenotype of the bow arm of string players and drumming arm of stick drummers bore striking resemblance to WC and racquet dystonia, almost always involving the wrist, forearm or shoulder. CONCLUSIONS/UNASSIGNED:Deep phenotyping of FTSDma reveals similarities in dystonic phenotype between instrument classes, likely related to shared technical demands, and unexpected similarities between other forms of task-specific upper extremity dystonia. A network model to explain these findings is proposed.
PMCID:12273687
PMID: 40688733
ISSN: 2160-8288
CID: 5901232
Short review/perspective: Critical early treatment of infections including meningitis and/or ventriculitis due to recurrent postoperative lumbar cerebrospinal fluid leaks, lumbar drains, or intracranial devices/implants
BACKGROUND/UNASSIGNED:Early treatment of cerebrospinal fluid (CSF) infections, including meningitis and/or ventriculitis (MV) is critical to minimize morbidity/mortality. Infections/MV are typically attributed to; recurrent postoperative lumbar CSF fistulas with drainage through the skin (12.2-33.3%), lumbar drains, and/or various intracranial devices (i.e. external ventricular drains, intracranial pressure monitors). METHODS/UNASSIGNED:Lumbar MR examinations best document recurrent postoperative dural fistulas with subcutaneous extension leading to leaking wounds; the longer these leaks persist, the greater the risk of CSF infection and MV. Classical cranial MR findings of MV due to prior lumbar surgery, lumbar drains or multiple intracranial devices include; ventricular debris, ependymal enhancement, hydrocephalus, extra-axial fluid collections, infarcts (arteritis/ventriculitis), abscesses, and granulomas. RESULTS/UNASSIGNED:Surgery for recurrent postoperative lumbar CSF leaks typically warrant wound reexploration with direct sutured-dural repairs, use of muscle patch grafts (avoid fat - it resorbs), fibrin sealants/fibrin glues (FS/FG), lumbar drains, lumboperitoneal and/or pseudomeningocele-peritoneal shunts. For patients who additionally develop meningitis/ventriculitis, one should consider adding intraventricular (IVT) or lumbar intrathecal (IT) antibiotic therapy to routine intravenous antibiotics. Notably, all efforts should be made to avoid the high mortality rates associated with VM (i.e., 13% to 60%). CONCLUSION/UNASSIGNED:Recurrent postoperative lumbar CSF leaks (i.e., especially after CSF breaches the skin), lumbar drains, and/or intracranial devices/implants may cause infections including meningitis and ventriculitis (MV). It is critical to recognize and treat these infections/MV early to avoid high morbidity and mortality rates.
PMCID:12255216
PMID: 40656495
ISSN: 2229-5097
CID: 5896852
Associations of Stroke With Risk of Epilepsy: Results From the Atherosclerosis Risk in Communities (ARIC) Study
OBJECTIVE:To estimate the risk of epilepsy associated with stroke in a community-based cohort, with consideration of stroke type, number, and severity. METHODS:Data from 15,100 Atherosclerosis Risk in Communities (ARIC) Study participants without stroke at baseline (1987-1989) were analyzed through 12/31/2022. Adjudicated stroke events were modeled as time-varying exposures. Epilepsy was defined using International Classification of Diseases Ninth/Tenth Revisions codes. Adjusted Fine and Gray proportional hazards models were used to estimate the risk of epilepsy associated with stroke. RESULTS:At baseline, the mean age of participants was 54 years, 55% were female, and 26% were of Black race. Over a median of 27 years, 1553 incident all-cause strokes occurred. The risk of epilepsy was higher among individuals with versus without incident stroke (HR = 1.75, 95% CI = 1.50-2.04). There was evidence for interaction by age (p-interaction = 0.03) whereby the risk of epilepsy associated with stroke was higher among individuals with younger versus older baseline age. Compared to no stroke, the point estimate for the risk of epilepsy associated with subarachnoid hemorrhage (HR = 2.94, 95% CI = 1.67-5.17) was higher than that for the risk of epilepsy associated with ischemic stroke (HR = 1.65, 95% CI = 1.40-1.94) and hemorrhagic stroke (HR = 1.47, 95% CI = 0.95, 2.27). The risk of epilepsy was similar by the number of incident strokes but was greater with increasing ischemic stroke severity. INTERPRETATION/CONCLUSIONS:The risk of epilepsy was increased after an incident stroke. This work identifies high-risk subgroups, including younger individuals, individuals with subarachnoid hemorrhage, and individuals with more severe ischemic strokes, who may benefit from closer clinical monitoring for seizures/epilepsy after a stroke.
PMID: 40665623
ISSN: 2328-9503
CID: 5897122
Multi-ancestry genome-wide meta-analysis of 56,241 individuals identifies known and novel cross-population and ancestry-specific associations as novel risk loci for Alzheimer's disease
BACKGROUND:Limited ancestral diversity has impaired our ability to detect risk variants more prevalent in ancestry groups of predominantly non-European ancestral background in genome-wide association studies (GWAS). We construct and analyze a multi-ancestry GWAS dataset in the Alzheimer's Disease Genetics Consortium (ADGC) to test for novel shared and population-specific late-onset Alzheimer's disease (LOAD) susceptibility loci and evaluate underlying genetic architecture in 37,382 non-Hispanic White (NHW), 6728 African American, 8899 Hispanic (HIS), and 3232 East Asian individuals, performing within ancestry fixed-effects meta-analysis followed by a cross-ancestry random-effects meta-analysis. RESULTS:We identify 13 loci with cross-population associations including known loci at/near CR1, BIN1, TREM2, CD2AP, PTK2B, CLU, SHARPIN, MS4A6A, PICALM, ABCA7, APOE, and two novel loci not previously reported at 11p12 (LRRC4C) and 12q24.13 (LHX5-AS1). We additionally identify three population-specific loci with genome-wide significance at/near PTPRK and GRB14 in HIS and KIAA0825 in NHW. Pathway analysis implicates multiple amyloid regulation pathways and the classical complement pathway. Genes at/near our novel loci have known roles in neuronal development (LRRC4C, LHX5-AS1, and PTPRK) and insulin receptor activity regulation (GRB14). CONCLUSIONS:Using cross-population GWAS meta-analyses, we identify novel LOAD susceptibility loci in/near LRRC4C and LHX5-AS1, both with known roles in neuronal development, as well as several novel population-unique loci. Reflecting the power of diverse ancestry in GWAS, we detect the SHARPIN locus with only 13.7% of the sample size of the NHW GWAS study (n = 409,589) in which this locus was first observed. Continued expansion into larger multi-ancestry studies will provide even more power for further elucidating the genomics of late-onset Alzheimer's disease.
PMCID:12273372
PMID: 40676597
ISSN: 1474-760x
CID: 5897492
International journal of radiation oncology biology physics. 2025:122(5):1086-1087.DOI: 10.1016/j.ijrobp.2024.12.044
Leptomeningeal Spread in EGFR-Mutant Non-Small Cell Lung Cancer [Letter]
PMID: 40675675
ISSN: 1879-355x
CID: 5897452
Systematic phenotype and genotype characterization of Moebius syndrome
PURPOSE/UNASSIGNED:To explore the phenotypic spectrum and genetic etiologies of Moebius Syndrome (MBS), a rare neurological disorder defined by congenital, nonprogressive facial weakness and limitations in ocular abduction. METHODS/UNASSIGNED:We applied strict diagnostic criteria and conducted clinical phenotyping of 149 individuals with MBS. Subsequently, we performed exome and/or genome sequencing on 67 of these individuals and 117 unaffected family members. RESULTS/UNASSIGNED:(HGNC:9968). CONCLUSION/UNASSIGNED:We did not identify a strong or unifying germline genetic etiology for MBS. Future studies may explore alternative causes, including environmental exposures, somatic variants, and/or complex inheritance patterns affecting brainstem and organ embryogenesis.
PMCID:12256340
PMID: 40662098
ISSN: 2949-7744
CID: 5897042
Endovascular thrombectomy for large vessel occlusion in acute ischemic stroke patients with concomitant intracranial hemorrhage
BACKGROUND:Endovascular thrombectomy (EVT) is the gold standard for acute ischemic stroke (AIS) with large vessel occlusion (LVO). However, concomitant intracranial hemorrhage (ICH) might render AIS-LVO patients ineligible for EVT in real-life practice. OBJECTIVE:To provide robust evidence regarding the outcomes of EVT in AIS-LVO patients with concomitant ICH. METHODS:We followed the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines and the Cochrane Handbook for Systematic Reviews of Interventions. Data analysis was performed using OpenMetaAnalyst software. We assessed the pooled incidence rate with a 95 % confidence interval (CI) for qualitative data and analyzed the pooled mean difference (MD) with a 95 % CI for continuous data. The pooled effect size for all outcomes was calculated using the DerSimonian and Laird random-effects model. RESULTS:Six studies were included in the meta-analysis. The overall incidence rate of successful revascularization was 85.3 % (95 % CI: 75.8 %-94.7 %), with rates of 76.1 % for ipsilateral hemorrhages and 66.1 % for contralateral hemorrhages. Functional independence was achieved in 20 % of patients (95 % CI: 4.8 %-36.8 %), with rates of 23 % for ipsilateral and 27.7 % for contralateral hemorrhages. Mortality was reported at 52 % (95 % CI: 34.9 %-69 %), with a higher rate of 52.6 % for ipsilateral hemorrhages compared to 36.8 % for contralateral hemorrhages. CONCLUSION/CONCLUSIONS:This meta-analysis indicates that EVT is feasible in AIS patients with concurrent ICH, yet it is associated with poor functional outcomes and high mortality rates. Careful patient selection is essential to optimize the outcomes, and further research is needed to enhance outcomes for these high-risk patients.
PMID: 39893927
ISSN: 1532-2653
CID: 5896632
The Role of AI-driven Volumetric Aneurysm Analysis in the Management of Cerebral Aneurysms
This article looks at the current state of aneurysm risk modeling, exploring the limitations of linear measurement. It reviews articles using Food and Drug Administration (FDA)-approved artificial intelligence-driven volumetric measurement tools both for evaluating potential aneurysm growth in patients being managed conservatively as well as in assessing morphologic change prerupture and postrupture. The challenges of defining the aneurysm boundary are explored, and a novel definition of aneurysm/parent artery interface is proposed.
PMID: 40634003
ISSN: 1557-9867
CID: 5890952
