Brain diabetic neurodegeneration segregates with low intrinsic aerobic capacity.

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

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

abstract：:Mutations in MYH7 cause autosomal dominant Laing distal myopathy. We present a family with a previously reported deletion (c.5186_5188delAGA, p.K1729del). Muscle pathology in one family member was characterized by an inflammatory myopathy with rimmed vacuoles, increased MHC Class I expression, and perivascular and end...

journal_title：Annals of clinical and translational neurology

authors： Roda RH,Schindler AB,Blackstone C,Mammen AL,Corse AM,Lloyd TE

更新日期：2014-12-01 00:00:00

abstract：OBJECTIVE:Serum neurofilament light (sNfL) is a promising new biomarker in multiple sclerosis (MS). We explored the relationship between sNfL and health outcomes and resource use in MS patients. METHODS:MS patients with serum samples and health-outcome measurements collected longitudinally between 2011 and 2016 were a...

journal_title：Annals of clinical and translational neurology

authors： Galetta K,Deshpande C,Healy BC,Glanz B,Ziehn M,Saxena S,Paul A,Saleh F,Collins M,Gaitan-Walsh P,Castro-Mendoza P,Weiner HL,Chitnis T

更新日期：2021-01-25 00:00:00

abstract：OBJECTIVE:Rolandic epilepsy is a common genetic focal epilepsy of childhood characterized by centrotemporal sharp waves on electroencephalogram. In previous genome-wide analysis, we had reported linkage of centrotemporal sharp waves to chromosome 11p13, and fine mapping with 44 SNPs identified the ELP4-PAX6 locus in tw...

journal_title：Annals of clinical and translational neurology

authors： Panjwani N,Wilson MD,Addis L,Crosbie J,Wirrell E,Auvin S,Caraballo RH,Kinali M,McCormick D,Oren C,Taylor J,Trounce J,Clarke T,Akman CI,Kugler SL,Mandelbaum DE,McGoldrick P,Wolf SM,Arnold P,Schachar R,Pal DK,Stru

更新日期：2016-06-02 00:00:00

abstract：OBJECTIVE:To examine whether apolipoprotein B (ApoB), apolipoprotein A-1 (ApoA1), or their ratio (ApoB/A1) were associated with early changes in cerebrospinal fluid (CSF) biomarkers of Alzheimer's disease (AD) pathology in elderly adults with subjective cognitive decline (SCD). METHODS:This study included 507 objectiv...

journal_title：Annals of clinical and translational neurology

authors： Hu H,Tan L,Bi YL,Xu W,Tan L,Shen XN,Hou XH,Ma YH,Dong Q,Yu JT

更新日期：2020-10-01 00:00:00

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

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

abstract：OBJECT:Ischemic brain injury is the leading cause for death and long-term disability in patients who suffer cardiac arrest and embolic stroke. Excitotoxicity and subsequent Ca(2+)-overload lead to ischemic neuron death. We explore a novel mechanism concerning the role of the excitatory extracellular calcium-sensing rec...

journal_title：Annals of clinical and translational neurology

authors： Kim JY,Ho H,Kim N,Liu J,Tu CL,Yenari MA,Chang W

更新日期：2014-11-01 00:00:00

abstract：OBJECTIVES:Isradipine is a dihydropyridine calcium channel inhibitor that has demonstrated concentration-dependent neuroprotective effects in animal models of Parkinson's disease (PD) but failed to show efficacy in a phase 3 clinical trial. The objectives of this study were to model the plasma pharmacokinetics of israd...

journal_title：Annals of clinical and translational neurology

authors： Venuto CS,Yang L,Javidnia M,Oakes D,James Surmeier D,Simuni T

更新日期：2021-01-18 00:00:00

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

authors： Zaman T,Abou Tayoun A,Goldberg EM

更新日期：2019-08-01 00:00:00

abstract：Objective:The dominant model of cognitive impairment in focal epilepsy has emphasised structural bases for cognitive deficits. Current theories of cognition in the healthy brain emphasise the importance of the reweighting of brain network interactions in support of task performance. Here, we explore the hypothesis that...

journal_title：Annals of clinical and translational neurology

authors： Tailby C,Kowalczyk MA,Jackson GD

更新日期：2017-11-24 00:00:00

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

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

abstract：INTRODUCTION:Multiple sclerosis (MS) is an enigmatic autoimmune-driven inflammatory/demyelinating disease of the human central nervous system (CNS), affecting brain, spinal cord, and optic nerves. The cause of the disease is not known and the number of effective treatments is limited. Despite some clear successes, tran...

journal_title：Annals of clinical and translational neurology

authors： 't Hart BA,van Kooyk Y,Geurts JJ,Gran B

更新日期：2015-05-01 00:00:00

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

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

abstract：Objective:We present an exploratory study for identification of sex differences in imaging biomarkers that could further refine selection of patients for acute reperfusion therapy and trials based on sex and imaging targets. Methods:The Lesion Evolution in Stroke and Ischemia On Neuroimaging (LESION) study included co...

journal_title：Annals of clinical and translational neurology

authors： Dula AN,Luby M,King BT,Sheth SA,Magadán A,Davis LA,Gealogo GA,Merino JG,Hsia AW,Latour LL,Warach SJ,LESION Investigators.

更新日期：2019-02-21 00:00:00

abstract：Background:There is currently no formal method for predicting the range expected in an individual's seizure counts. Having access to such a prediction would be of benefit for developing more efficient clinical trials, but also for improving clinical care in the outpatient setting. Methods:Using three independently col...

journal_title：Annals of clinical and translational neurology

authors： Goldenholz DM,Goldenholz SR,Moss R,French J,Lowenstein D,Kuzniecky R,Haut S,Cristofaro S,Detyniecki K,Hixson J,Karoly P,Cook M,Strashny A,Theodore WH

更新日期：2018-01-09 00:00:00

abstract：OBJECTIVE:The objective of this study was to investigate the genetic etiology of the X-linked disorder "Hypomyelination of Early Myelinating Structures" (HEMS). METHODS:We included 16 patients from 10 families diagnosed with HEMS by brain MRI criteria. Exome sequencing was used to search for causal mutations. In silic...

journal_title：Annals of clinical and translational neurology

authors： Kevelam SH,Taube JR,van Spaendonk RM,Bertini E,Sperle K,Tarnopolsky M,Tonduti D,Valente EM,Travaglini L,Sistermans EA,Bernard G,Catsman-Berrevoets CE,van Karnebeek CD,Østergaard JR,Friederich RL,Fawzi Elsaid M,Schieving J

更新日期：2015-06-01 00:00:00

abstract：Objective:We aimed to study the occurrence and development of axonal pathology and the influence of astrocytes in vanishing white matter. Methods:Axons and myelin were analyzed using electron microscopy and immunohistochemistry on Eif2b4 and Eif2b5 single- and double-mutant mice and patient brain tissue. In addition, ...

journal_title：Annals of clinical and translational neurology

authors： Klok MD,Bugiani M,de Vries SI,Gerritsen W,Breur M,van der Sluis S,Heine VM,Kole MHP,Baron W,van der Knaap MS

更新日期：2018-03-01 00:00:00

abstract：Objective:Previous studies have demonstrated that suppression of Nrf2 in Friedreich ataxia tissues contributes to excess oxidative stress, mitochondrial dysfunction, and reduced ATP production. Omaveloxolone, an Nrf2 activator and NF-kB suppressor, targets dysfunctional inflammatory, metabolic, and bioenergetic pathway...

journal_title：Annals of clinical and translational neurology

authors： Lynch DR,Farmer J,Hauser L,Blair IA,Wang QQ,Mesaros C,Snyder N,Boesch S,Chin M,Delatycki MB,Giunti P,Goldsberry A,Hoyle C,McBride MG,Nachbauer W,O'Grady M,Perlman S,Subramony SH,Wilmot GR,Zesiewicz T,Meyer C

更新日期：2018-11-10 00:00:00

abstract：OBJECTIVE:To evaluate the CSF levels of chitinase proteins during the presymptomatic and early symptomatic phases of amyotrophic lateral sclerosis (ALS). METHODS:CSF samples were obtained from 16 controls, 55 individuals at-risk for ALS (including 18 carrying a mutation in C9ORF72, 33 in SOD1), 12 ALS patients, and 7 ...

journal_title：Annals of clinical and translational neurology

authors： Gray E,Thompson AG,Wuu J,Pelt J,Talbot K,Benatar M,Turner MR

更新日期：2020-08-01 00:00:00

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

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

abstract：INTRODUCTION:Many patients suffering from migraine gain little relief from existing treatments partly because many existing acute and preventive therapies used in migraine have been adopted from other neurologic conditions such as depression or epilepsy. Here, we present data supporting a new migraine-specific target, ...

journal_title：Annals of clinical and translational neurology

authors： Waung MW,Akerman S,Wakefield M,Keywood C,Goadsby PJ

更新日期：2016-07-01 00:00:00

abstract：OBJECTIVE:Oxidative stress in the brain is highly prevalent in many neurodegenerative disorders including lysosomal storage disorders, in which neurodegeneration is a devastating manifestation. Despite intense studies, a precise mechanism linking oxidative stress to neuropathology in specific neurodegenerative diseases...

journal_title：Annals of clinical and translational neurology

authors： Peng S,Xu J,Pelkey KA,Chandra G,Zhang Z,Bagh MB,Yuan X,Wu LG,McBain CJ,Mukherjee AB

更新日期：2015-11-06 00:00:00

abstract：Objective:Clinical assessment of auditory attention in patients with disorders of consciousness is often limited by motor impairment. Here, we employ intersubject correlations among electroencephalography responses to naturalistic speech in order to assay auditory attention among patients and healthy controls. Methods...

journal_title：Annals of clinical and translational neurology

authors： Iotzov I,Fidali BC,Petroni A,Conte MM,Schiff ND,Parra LC

更新日期：2017-09-27 00:00:00

abstract：:Inclusion Body Myositis (IBM) is a relatively common acquired inflammatory myopathy in patients above 50 years of age. Pathological hallmarks of IBM are intramyofiber protein inclusions and endomysial inflammation, indicating that both myodegenerative and inflammatory mechanisms contribute to its pathogenesis. Impaire...

journal_title：Annals of clinical and translational neurology

authors： Keller CW,Schmidt J,Lünemann JD

更新日期：2017-05-16 00:00:00

abstract：:Spinocerebellar ataxia type 2 (SCA2) is among the most common forms of autosomal dominant ataxias, accounting for 15% of the total families. Occurrence is higher in specific populations such as the Cuban and Southern Italian. The disease is caused by a CAG expansion in ATXN2 gene, leading to abnormal accumulation of t...

journal_title：Annals of clinical and translational neurology

authors： Antenora A,Rinaldi C,Roca A,Pane C,Lieto M,Saccà F,Peluso S,De Michele G,Filla A

更新日期：2017-08-10 00:00:00

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

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

abstract：OBJECTIVE:The early infantile epileptic encephalopathy type 13 (EIEE13, OMIM #614558) results from de novo missense mutations of SCN8A encoding the voltage-gated sodium channel Nav1.6. More than 20% of patients have recurrent mutations in residues Arg1617 or Arg1872. Our goal was to determine the functional effects of ...

journal_title：Annals of clinical and translational neurology

authors： Wagnon JL,Barker BS,Hounshell JA,Haaxma CA,Shealy A,Moss T,Parikh S,Messer RD,Patel MK,Meisler MH

更新日期：2015-12-21 00:00:00

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

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

abstract：OBJECTIVE:Examine whether cognitive reserve moderates the association of 1) vascular risk factors and 2) white matter hyperintensity burden with risk of clinical progression and longitudinal cognitive decline. METHODS:BIOCARD Study participants were cognitively normal and primarily middle-aged (M = 57 years) at baseli...

journal_title：Annals of clinical and translational neurology

authors： Soldan A,Pettigrew C,Zhu Y,Wang MC,Gottesman RF,DeCarli C,Albert M,BIOCARD Research Team.

更新日期：2020-08-01 00:00:00

abstract：Objective:Features of cerebral autosomal dominant arteriopathy with subcortical infarct and leukoencephalopathy ( CADASIL) caused by NOTCH3 mutations vary between ethnicities and regions. In Taiwan, more than 70% of CADASIL patients carry the mutation hot spot of p.R544C. We investigated the prevalence of NOTCH3 p.R544...

journal_title：Annals of clinical and translational neurology

authors： Tang SC,Chen YR,Chi NF,Chen CH,Cheng YW,Hsieh FI,Hsieh YC,Yeh HL,Sung PS,Hu CJ,Chern CM,Lin HJ,Lien LM,Peng GS,Chiou HY,Jeng JS

更新日期：2018-11-20 00:00:00