Longitudinal advanced MRI case report of white matter radiation necrosis.


:Radiation necrosis mostly occurs in and near the radiation field. We used magnetic resonance imaging to study radiation-induced necrosis of atypical onset, severity, and extent following stereotactic radiosurgery for a symptomatic arteriovenous malformation. Susceptibility-sensitive imaging, T1-relaxation, myelin water imaging, and magnetic resonance spectroscopy were acquired three times up to 52 months postradiosurgery. Increasing water content outside the radiation field, contralateral neuronal loss, and gliosis were detected over time. Our findings suggest that radiation-induced vasculopathic changes spread more diffusely than previously described. An autoimmune response to brain antigens could underlie white matter changes outside the initial radiation field.


Ann Clin Transl Neurol


Wiggermann V,Lapointe E,Litvin L,Graf C,Hernández-Torres E,McKenzie M,Vavasour IM,Laule C,MacMillan EL,Li DKB,Kolind SH,Rauscher A,Traboulsee AL




Has Abstract


2018-12-10 00:00:00












  • Targeted gene panel use in 2249 neuromuscular patients: the Australasian referral center experience.

    abstract:OBJECTIVE:To develop, test, and iterate a comprehensive neuromuscular targeted gene panel in a national referral center. METHODS:We designed two iterations of a comprehensive targeted gene panel for neuromuscular disorders. Version 1 included 336 genes, which was increased to 464 genes in Version 2. Both panels used T...

    journal_title:Annals of clinical and translational neurology

    pub_type: 杂志文章


    authors: Beecroft SJ,Yau KS,Allcock RJN,Mina K,Gooding R,Faiz F,Atkinson VJ,Wise C,Sivadorai P,Trajanoski D,Kresoje N,Ong R,Duff RM,Cabrera-Serrano M,Nowak KJ,Pachter N,Ravenscroft G,Lamont PJ,Davis MR,Laing NG

    更新日期:2020-03-01 00:00:00

  • Severe white matter damage in SHANK3 deficiency: a human and translational study.

    abstract:OBJECTIVE:Heterozygous SHANK3 mutations or partial deletions of the long arm of chromosome 22, also known as Phelan-McDermid syndrome, result in a syndromic form of the autism spectrum as well as in global developmental delay, intellectual disability, and several neuropsychiatric comorbidities. The exact pathophysiolog...

    journal_title:Annals of clinical and translational neurology

    pub_type: 杂志文章


    authors: Jesse S,Müller HP,Schoen M,Asoglu H,Bockmann J,Huppertz HJ,Rasche V,Ludolph AC,Boeckers TM,Kassubek J

    更新日期:2020-01-01 00:00:00

  • Leukocyte telomere length in patients with myotonic dystrophy type I: a pilot study.

    abstract::Myotonic dystrophy type I (DM1) is an autosomal dominant disease of which clinical manifestations resemble premature aging. We evaluated the contribution of telomere length in pathogenesis in 361 DM1 patients (12 with serial measurements) and 223 unaffected relative controls using qPCR assay. While no differences in b...

    journal_title:Annals of clinical and translational neurology

    pub_type: 杂志文章


    authors: Wang Y,Best A,Fernández-Torrón R,Alsaggaf R,Garcia-Puga M,Dagnall CL,Hicks B,Thompson M,Matheu Fernandez A,Zulaica Ijurco M,Greene MH,Lopez de Munain A,Gadalla SM

    更新日期:2020-01-01 00:00:00

  • Anti-CD20 inhibits T cell-mediated pathology and microgliosis in the rat brain.

    abstract:OBJECTIVE:The mechanism of action of anti-B cell therapy in multiple sclerosis (MS) is not fully understood. Here, we compared the effect of anti-CD20 therapy on microglial activation in two distinct focal rat models of MS. METHODS:The effect of anti-CD20 therapy on lesion formation and extralesional microglial activa...

    journal_title:Annals of clinical and translational neurology

    pub_type: 杂志文章


    authors: Anthony DC,Dickens AM,Seneca N,Couch Y,Campbell S,Checa B,Kersemans V,Warren EA,Tredwell M,Sibson NR,Gouverneur V,Leppert D

    更新日期:2014-09-01 00:00:00

  • High-throughput sequencing of immune repertoires in multiple sclerosis.

    abstract::T cells and B cells are crucial in the initiation and maintenance of multiple sclerosis (MS), and the activation of these cells is believed to be mediated through specific recognition of antigens by the T- and B-cell receptors. The antigen receptors are highly polymorphic due to recombination (T- and B-cell receptors)...

    journal_title:Annals of clinical and translational neurology

    pub_type: 杂志文章,评审


    authors: Lossius A,Johansen JN,Vartdal F,Holmøy T

    更新日期:2016-02-25 00:00:00

  • Impact of stroke mechanism in acute basilar occlusion with reperfusion therapy.

    abstract:Objective:We aimed to evaluate the impact of underlying mechanism of basilar artery (BA) occlusion on the outcomes after endovascular therapy (EVT) for reperfusion and the outcome factors associated with each mechanism, and to identify radiologic parameters enabling to distinguish the underlying mechanism. Methods:Fro...

    journal_title:Annals of clinical and translational neurology

    pub_type: 杂志文章


    authors: Lee WJ,Jung KH,Ryu YJ,Kim JM,Lee ST,Chu K,Kim M,Lee SK,Sohn CH,Roh JK

    更新日期:2018-01-30 00:00:00

  • Preoperative cerebrospinal fluid β-Amyloid/Tau ratio and postoperative delirium.

    abstract:OBJECTIVE:The neuropathogenesis of postoperative delirium remains unknown. Low cerebrospinal fluid (CSF) βamyloid protein (Aβ) and high CSF Tau levels are associated with Alzheimer's disease. We therefore assessed whether lower preoperative CSF Aβ/Tau ratio was associated with higher incidence and greater severity of p...

    journal_title:Annals of clinical and translational neurology

    pub_type: 杂志文章


    authors: Xie Z,Swain CA,Ward SA,Zheng H,Dong Y,Sunder N,Burke DW,Escobar D,Zhang Y,Marcantonio ER

    更新日期:2014-05-01 00:00:00

  • Age of onset determines intrinsic functional brain architecture in Friedreich ataxia.

    abstract:OBJECTIVE:Friedreich ataxia (FRDA) is the commonest hereditary ataxia in Caucasians. Most patients are homozygous for expanded GAA triplet repeats in the first intron of the frataxin (FXN) gene, involved in mitochondrial iron metabolism. Here, we used magnetoencephalography (MEG) to characterize the main determinants o...

    journal_title:Annals of clinical and translational neurology

    pub_type: 杂志文章


    authors: Naeije G,Wens V,Coquelet N,Sjøgård M,Goldman S,Pandolfo M,De Tiège XP

    更新日期:2020-01-01 00:00:00

  • Aquatic training in MS: neurotherapeutic impact upon quality of life.

    abstract::Three fundamental principals associated with aquatic therapy differentiate it with respect to exercise on land, and in air. These are buoyancy (reduction in weight of the body within the buoyant medium of water), viscosity (a "drag force" is generated when moving within water, when compared with the same movement in a...

    journal_title:Annals of clinical and translational neurology

    pub_type: 杂志文章


    authors: Frohman AN,Okuda DT,Beh S,Treadaway K,Mooi C,Davis SL,Shah A,Frohman TC,Frohman EM

    更新日期:2015-08-01 00:00:00

  • Expression of FSHD-related DUX4-FL alters proteostasis and induces TDP-43 aggregation.

    abstract:OBJECTIVE:Pathogenesis in facioscapulohumeral muscular dystrophy (FSHD) appears to be due to aberrant expression, particularly in skeletal muscle nuclei, of the full-length isoform of DUX4 (DUX4-FL). Expression of DUX4-FL is known to alter gene expression and to be cytotoxic, but cell responses to DUX4-FL are not fully...

    journal_title:Annals of clinical and translational neurology

    pub_type: 杂志文章


    authors: Homma S,Beermann ML,Boyce FM,Miller JB

    更新日期:2015-02-01 00:00:00

  • A single-center SCN8A-related epilepsy cohort: clinical, genetic, and physiologic characterization.

    abstract:OBJECTIVE:Pathogenic variants in SCN8A, encoding the voltage-gated sodium (Na+) channel α subunit Nav1.6, is a known cause of epilepsy. Here, we describe clinical and genetic features of all patients with SCN8A epilepsy evaluated at a single-tertiary care center, with biophysical data on identified Nav1.6 variants and ...

    journal_title:Annals of clinical and translational neurology

    pub_type: 杂志文章


    authors: Zaman T,Abou Tayoun A,Goldberg EM

    更新日期:2019-08-01 00:00:00

  • Whole-exome sequencing in 20,197 persons for rare variants in Alzheimer's disease.

    abstract:Objective:The genetic bases of Alzheimer's disease remain uncertain. An international effort to fully articulate genetic risks and protective factors is underway with the hope of identifying potential therapeutic targets and preventive strategies. The goal here was to identify and characterize the frequency and impact ...

    journal_title:Annals of clinical and translational neurology

    pub_type: 杂志文章


    authors: Raghavan NS,Brickman AM,Andrews H,Manly JJ,Schupf N,Lantigua R,Wolock CJ,Kamalakaran S,Petrovski S,Tosto G,Vardarajan BN,Goldstein DB,Mayeux R,Alzheimer's Disease Sequencing Project.

    更新日期:2018-05-24 00:00:00

  • Translocator protein in late stage Alzheimer's disease and Dementia with Lewy bodies brains.

    abstract:OBJECTIVE:Increased translocator protein (TSPO), previously known as the peripheral benzodiazepine receptor (PBR), in glial cells of the brain has been used as a neuroinflammation marker in the early and middle stages of neurodegenerative diseases, such as Alzheimer's disease (AD) and Dementia with Lewy Bodies (DLB). I...

    journal_title:Annals of clinical and translational neurology

    pub_type: 杂志文章


    authors: Xu J,Sun J,Perrin RJ,Mach RH,Bales KR,Morris JC,Benzinger TLS,Holtzman DM

    更新日期:2019-08-01 00:00:00

  • Behavioral profile of unruptured intracranial aneurysms: a systematic review.

    abstract:OBJECTIVES:To systematically review the literature on the neuropsychological, psychosocial, and functional profiles of patients with unruptured intracranial aneurysms. METHODS:This review was limited to peer-reviewed research articles that reported cognitive, psychosocial, and/or functional profiles of patients with u...

    journal_title:Annals of clinical and translational neurology

    pub_type: 杂志文章


    authors: Bonares MJ,de Oliveira Manoel AL,Macdonald RL,Schweizer TA

    更新日期:2014-03-01 00:00:00

  • Interplay of brain structure and function in neonatal congenital heart disease.

    abstract:OBJECTIVE:To evaluate whether structural and microstructural brain abnormalities in neonates with congenital heart disease (CHD) correlate with neuronal network dysfunction measured by analysis of EEG connectivity. METHODS:We studied a prospective cohort of 20 neonates with CHD who underwent continuous EEG monitoring ...

    journal_title:Annals of clinical and translational neurology

    pub_type: 杂志文章


    authors: Birca A,Vakorin VA,Porayette P,Madathil S,Chau V,Seed M,Doesburg SM,Blaser S,Nita DA,Sharma R,Duerden EG,Hickey EJ,Miller SP,Hahn CD

    更新日期:2016-08-14 00:00:00

  • Ambroxol chaperone therapy for neuronopathic Gaucher disease: A pilot study.

    abstract:OBJECTIVE:Gaucher disease (GD) is a lysosomal storage disease characterized by a deficiency of glucocerebrosidase. Although enzyme-replacement and substrate-reduction therapies are available, their efficacies in treating the neurological manifestations of GD are negligible. Pharmacological chaperone therapy is hypothes...

    journal_title:Annals of clinical and translational neurology

    pub_type: 杂志文章


    authors: Narita A,Shirai K,Itamura S,Matsuda A,Ishihara A,Matsushita K,Fukuda C,Kubota N,Takayama R,Shigematsu H,Hayashi A,Kumada T,Yuge K,Watanabe Y,Kosugi S,Nishida H,Kimura Y,Endo Y,Higaki K,Nanba E,Nishimura Y,Tamasa

    更新日期:2016-02-02 00:00:00

  • Intrathecal T-cell clonal expansions in patients with multiple sclerosis.

    abstract:OBJECTIVE:Analysis of the T-cell receptor (TCR) repertoire in the cerebrospinal fluid (CSF) of patients with multiple sclerosis (MS) can reveal antigen-specific immune responses potentially implicated in the disease process. We applied a new unbiased deep-sequencing method for TCR repertoire analysis to accurately meas...

    journal_title:Annals of clinical and translational neurology

    pub_type: 杂志文章


    authors: de Paula Alves Sousa A,Johnson KR,Nicholas R,Darko S,Price DA,Douek DC,Jacobson S,Muraro PA

    更新日期:2016-04-20 00:00:00

  • Improved diagnosis of Parkinson's disease from a detailed olfactory phenotype.

    abstract:OBJECTIVE:To assess the predictive potential of the complete response pattern from the University of Pennsylvania Smell Identification Test for the diagnosis of Parkinson's disease. METHODS:We analyzed a large dataset from the Arizona Study of Aging and Neurodegenerative Disorders, a longitudinal clinicopathological s...

    journal_title:Annals of clinical and translational neurology

    pub_type: 杂志文章


    authors: Gerkin RC,Adler CH,Hentz JG,Shill HA,Driver-Dunckley E,Mehta SH,Sabbagh MN,Caviness JN,Dugger BN,Serrano G,Belden C,Smith BH,Sue L,Davis KJ,Zamrini E,Beach TG

    更新日期:2017-09-08 00:00:00

  • Systemic chemotherapy decreases brain glucose metabolism.

    abstract:OBJECTIVE:Cancer patients may experience neurologic adverse effects, such as alterations in neurocognitive function, as a consequence of chemotherapy. The mechanisms underlying such neurotoxic syndromes remain poorly understood. We here describe the temporal and regional effects of systemically administered platinum-ba...

    journal_title:Annals of clinical and translational neurology

    pub_type: 杂志文章


    authors: Horky LL,Gerbaudo VH,Zaitsev A,Plesniak W,Hainer J,Govindarajulu U,Kikinis R,Dietrich J

    更新日期:2014-10-01 00:00:00

  • Temporal association of sNfL and gad-enhancing lesions in multiple sclerosis.

    abstract:OBJECTIVE:Multiple sclerosis (MS) is an autoimmune demyelinating disorder, which is characterized by relapses and remissions. Serum neurofilament light chain (sNfL) is an emerging biomarker of disease activity but its clinical use is still limited. In this study, we aim to characterize the temporal association between ...

    journal_title:Annals of clinical and translational neurology

    pub_type: 杂志文章


    authors: Rosso M,Gonzalez CT,Healy BC,Saxena S,Paul A,Bjornevik K,Kuhle J,Benkert P,Leppert D,Guttmann C,Bakshi R,Weiner HL,Chitnis T

    更新日期:2020-06-01 00:00:00

  • VRK1 (Y213H) homozygous mutant impairs Cajal bodies in a hereditary case of distal motor neuropathy.

    abstract:BACKGROUND:Distal motor neuropathies with a genetic origin have a heterogeneous clinical presentation with overlapping features affecting distal nerves and including spinal muscular atrophies and amyotrophic lateral sclerosis. This indicates that their genetic background is heterogeneous. PATIENT AND METHODS:In this w...

    journal_title:Annals of clinical and translational neurology

    pub_type: 杂志文章


    authors: Marcos AT,Martín-Doncel E,Morejón-García P,Marcos-Alcalde I,Gómez-Puertas P,Segura-Puimedon M,Armengol L,Navarro-Pando JM,Lazo PA

    更新日期:2020-05-01 00:00:00

  • De novo NSF mutations cause early infantile epileptic encephalopathy.

    abstract::N-ethylmaleimide-sensitive factor (NSF) plays a critical role in intracellular vesicle transport, which is essential for neurotransmitter release. Herein, we, for the first time, document human monogenic disease phenotype of de novo pathogenic variants in NSF, that is, epileptic encephalopathy of early infantile onset...

    journal_title:Annals of clinical and translational neurology

    pub_type: 杂志文章


    authors: Suzuki H,Yoshida T,Morisada N,Uehara T,Kosaki K,Sato K,Matsubara K,Takano-Shimizu T,Takenouchi T

    更新日期:2019-11-01 00:00:00

  • Repeat expansion scanning of the NOTCH2NLC gene in patients with multiple system atrophy.

    abstract:OBJECTIVE:Trinucleotide GGC repeat expansion in the 5'UTR of the NOTCH2NLC gene has been recognized as the pathogenesis of neuronal intranuclear inclusion disease (NIID). Previous studies have described that some NIID patients showed clinical and pathological similarities with multiple system atrophy (MSA). This study ...

    journal_title:Annals of clinical and translational neurology

    pub_type: 杂志文章


    authors: Fang P,Yu Y,Yao S,Chen S,Zhu M,Chen Y,Zou K,Wang L,Wang H,Xin L,Hong T,Hong D

    更新日期:2020-04-01 00:00:00

  • Brain alterations within the first 100 days of HIV infection.

    abstract:OBJECTIVE:Brain involvement is a serious complication of HIV infection. The earliest changes in the brain, which represents an anatomic site for viral persistence, are largely unknown. METHODS:This investigation used quantitative Magnetic Resonance methodologies, including high resolution and diffusion tensor (DTI) im...

    journal_title:Annals of clinical and translational neurology

    pub_type: 杂志文章


    authors: Ragin AB,Wu Y,Gao Y,Keating S,Du H,Sammet C,Kettering CS,Epstein LG

    更新日期:2015-01-01 00:00:00

  • Early ictal recruitment of midline thalamus in mesial temporal lobe epilepsy.

    abstract::The causal role of midline thalamus in the initiation and early organization of mesial temporal lobe seizures is studied. Three patients undergoing stereoelectroencephalography were enrolled for the placement of an additional depth electrode targeting the midline thalamus. The midline thalamus was recruited in all thr...

    journal_title:Annals of clinical and translational neurology

    pub_type: 杂志文章


    authors: Romeo A,Issa Roach AT,Toth E,Chaitanya G,Ilyas A,Riley KO,Pati S

    更新日期:2019-08-01 00:00:00

  • Clinical characteristics of Taiwanese patients with Hereditary spastic paraplegia type 5.

    abstract:OBJECTIVES:To investigate the clinical, electrophysiological, neuroimaging characteristics and genetic features of SPG5 in Taiwan. METHODS:Mutational analysis of the coding regions of CYP7B1 was performed by utilizing targeted resequencing analysis of the 187 unrelated Taiwanese HSP patients. The diagnosis of SPG5 was...

    journal_title:Annals of clinical and translational neurology

    pub_type: 杂志文章


    authors: Chou CT,Soong BW,Lin KP,Tsai YS,Jih KY,Liao YC,Lee YC

    更新日期:2020-04-01 00:00:00

  • POLG2 deficiency causes adult-onset syndromic sensory neuropathy, ataxia and parkinsonism.

    abstract:OBJECTIVE:Mitochondrial dysfunction plays a key role in the pathophysiology of neurodegenerative disorders such as ataxia and Parkinson's disease. We describe an extended Belgian pedigree where seven individuals presented with adult-onset cerebellar ataxia, axonal peripheral ataxic neuropathy, and tremor, in variable c...

    journal_title:Annals of clinical and translational neurology

    pub_type: 杂志文章


    authors: Van Maldergem L,Besse A,De Paepe B,Blakely EL,Appadurai V,Humble MM,Piard J,Craig K,He L,Hella P,Debray FG,Martin JJ,Gaussen M,Laloux P,Stevanin G,Van Coster R,Taylor RW,Copeland WC,Mormont E,Bonnen PE

    更新日期:2016-11-16 00:00:00

  • New phenotype of DCTN1-related spectrum: early-onset dHMN plus congenital foot deformity.

    abstract:OBJECTIVE:To describe the clinical and genetic features of two patients with different phenotypes due to various Dynactin 1 (DCTN1) gene mutations and further explore the phenotype-genotype relationship. METHODS:Patient 1 is a 23-year-old man with congenital foot deformity and life-long distal muscle weakness and atro...

    journal_title:Annals of clinical and translational neurology

    pub_type: 杂志文章


    authors: Tian WT,Liu LH,Zhou HY,Zhang C,Zhan FX,Zhu ZY,Chen SD,Luan XH,Cao L

    更新日期:2020-02-01 00:00:00

  • Rho-kinase inhibitors do not expand hematoma volume in acute experimental intracerebral hemorrhage.

    abstract::Rho-associated kinase (ROCK) is an emerging target in acute ischemic stroke. Early pre-hospital treatment with ROCK inhibitors may improve their efficacy, but their antithrombotic effects raise safety concerns in hemorrhagic stroke, precluding use prior to neuroimaging. Therefore, we tested whether ROCK inhibition aff...

    journal_title:Annals of clinical and translational neurology

    pub_type: 杂志文章


    authors: Akhter M,Qin T,Fischer P,Sadeghian H,Kim HH,Whalen MJ,Goldstein JN,Ayata C

    更新日期:2018-05-01 00:00:00

  • Motor neuron diseases caused by a novel VRK1 variant - A genotype/phenotype study.

    abstract:BACKGROUND:Motor neuron disorders involving upper and lower neurons are a genetically and clinically heterogenous group of rare neuromuscular disorders with overlap among spinal muscular atrophies (SMAs) and amyotrophic lateral sclerosis (ALS). Classical SMA caused by recessive mutations in SMN1 is one of the most comm...

    journal_title:Annals of clinical and translational neurology

    pub_type: 杂志文章


    authors: Sedghi M,Moslemi AR,Olive M,Etemadifar M,Ansari B,Nasiri J,Emrahi L,Mianesaz HR,Laing NG,Tajsharghi H

    更新日期:2019-11-01 00:00:00