Cingulate epilepsy: report of 3 electroclinical subtypes with surgical outcomes.

Abstract:

IMPORTANCE:The literature on cingulate gyrus epilepsy in the magnetic resonance imaging era is limited to case reports and small case series. To our knowledge, this is the largest study of surgically confirmed epilepsy arising from the anterior or posterior cingulate region. OBJECTIVE:To characterize the clinical and electrophysiological findings of epilepsies arising from the anterior and posterior cingulate gyrus. DESIGN, SETTING, AND PARTICIPANTS:We studied consecutive cingulate gyrus epilepsy cases identified retrospectively from the Cleveland Clinic and University of Texas Southwestern Medical Center epilepsy databases from 1992 to 2009. Participants included 14 consecutive cases of cingulate gyrus epilepsies confirmed by restricted magnetic resonance image lesions and seizure freedom or marked improvement following lesionectomy. MAIN OUTCOMES AND MEASURES:The main outcome measure was improvement in seizure frequency following surgery. The clinical, video electroencephalography, neuroimaging, pathology, and surgical outcome data were reviewed. RESULTS:All 14 patients had cingulate epilepsy confirmed by restricted magnetic resonance image lesions and seizure freedom or marked improvement following lesionectomy. They were divided into 3 groups based on anatomical location of the lesion and corresponding seizure semiology. In the posterior cingulate group, all 4 patients had electroclinical findings suggestive of temporal origin of the epilepsy. The anterior cingulate cases were divided into a typical (Bancaud) group (6 cases with hypermotor seizures and infrequent generalization with the presence of fear, laughter, or severe interictal personality changes) and an atypical group (4 cases presenting with simple motor seizures and a tendency for more frequent generalization and less-favorable long-term surgical outcome). All atypical cases were associated with an underlying infiltrative astrocytoma. CONCLUSIONS AND RELEVANCE:Posterior cingulate gyrus epilepsy may present with electroclinical findings that are suggestive of temporal lobe epilepsy and can be considered as another example of pseudotemporal epilepsies. The electroclinical presentation and surgical outcome of lesional anterior cingulate epilepsy is possibly influenced by the underlying pathology. This study highlights the difficulty in localizing seizures arising from the cingulate gyrus in the absence of a magnetic resonance image lesion.

journal_name

JAMA Neurol

journal_title

JAMA neurology

authors

Alkawadri R,So NK,Van Ness PC,Alexopoulos AV

doi

10.1001/jamaneurol.2013.2940

subject

Has Abstract

pub_date

2013-08-01 00:00:00

pages

995-1002

issue

8

eissn

2168-6149

issn

2168-6157

pii

1696630

journal_volume

70

pub_type

杂志文章
  • JC polyomavirus granule cell neuronopathy in a patient treated with rituximab.

    abstract:IMPORTANCE:Progressive multifocal leukoencephalopathy results from lytic infection of the glia by the JC polyomavirus (JCV); JCV granule cell neuronopathy is caused by infection with a mutated form of JCV, leading to a shift in viral tropism from the glia to cerebellar granule cells. This shift results in a clinical sy...

    journal_title:JAMA neurology

    pub_type: 杂志文章

    doi:10.1001/jamaneurol.2013.4668

    authors: Dang L,Dang X,Koralnik IJ,Todd PK

    更新日期:2014-04-01 00:00:00

  • Reactions to Multiple Ascending Doses of the Microtubule Stabilizer TPI-287 in Patients With Alzheimer Disease, Progressive Supranuclear Palsy, and Corticobasal Syndrome: A Randomized Clinical Trial.

    abstract:Importance:Basket-design clinical trials that allow investigation of treatment effects on different clinical syndromes that share the same molecular pathophysiology have not previously been attempted in neurodegenerative disease. Objective:To assess the safety, tolerability, and pharmacodynamics of the microtubule sta...

    journal_title:JAMA neurology

    pub_type: 杂志文章,随机对照试验

    doi:10.1001/jamaneurol.2019.3812

    authors: Tsai RM,Miller Z,Koestler M,Rojas JC,Ljubenkov PA,Rosen HJ,Rabinovici GD,Fagan AM,Cobigo Y,Brown JA,Jung JI,Hare E,Geldmacher DS,Natelson-Love M,McKinley EC,Luong PN,Chuu EL,Powers R,Mumford P,Wolf A,Wang P,Sham

    更新日期:2020-02-01 00:00:00

  • Prospectively assessed clinical outcomes in concussive blast vs nonblast traumatic brain injury among evacuated US military personnel.

    abstract:IMPORTANCE:Blast injury has been identified as the signature injury in the conflicts in Iraq and Afghanistan. However it remains to be determined whether fundamental differences may exist between blast-related traumatic brain injury (TBI) and TBI due to other mechanisms. OBJECTIVES:To determine similarities and differ...

    journal_title:JAMA neurology

    pub_type: 临床试验,杂志文章

    doi:10.1001/jamaneurol.2014.1114

    authors: Mac Donald CL,Johnson AM,Wierzechowski L,Kassner E,Stewart T,Nelson EC,Werner NJ,Zonies D,Oh J,Fang R,Brody DL

    更新日期:2014-08-01 00:00:00

  • Vascular complications of fungal meningitis attributed to injections of contaminated methylprednisolone acetate.

    abstract:IMPORTANCE:Fungal meningitis due to injections of contaminated methylprednisolone acetate can present with vascular sequelae in immunocompetent individuals. This is particularly germane to neurologists because better recognition of the clinical characteristics of patients with fungal meningitis and ischemic stroke will...

    journal_title:JAMA neurology

    pub_type: 杂志文章

    doi:10.1001/jamaneurol.2013.3586

    authors: Kleinfeld K,Jones P,Riebau D,Beck A,Paueksakon P,Abel T,Claassen DO

    更新日期:2013-09-01 00:00:00

  • Ischemic stroke and transient ischemic attack in young adults: risk factors, diagnostic yield, neuroimaging, and thrombolysis.

    abstract:BACKGROUND:Approximately 10% to 14% of ischemic strokes occur in young adults. OBJECTIVE:To investigate the yield of diagnostic tests, neuroimaging findings, and treatment of ischemic strokes in young adults. DESIGN:We retrospectively reviewed data from our Get with the Guidelines-Stroke database from 2005 through 20...

    journal_title:JAMA neurology

    pub_type: 杂志文章

    doi:10.1001/jamaneurol.2013.575

    authors: Ji R,Schwamm LH,Pervez MA,Singhal AB

    更新日期:2013-01-01 00:00:00

  • Association of Plasma Total Tau Level With Cognitive Decline and Risk of Mild Cognitive Impairment or Dementia in the Mayo Clinic Study on Aging.

    abstract:Importance:The utility of plasma total tau level as a prognostic marker for cognitive decline and dementia is not well understood. Objectives:To determine (1) the association between plasma total tau level, cognitive decline, and risk of mild cognitive impairment (MCI) and dementia; (2) whether this association differ...

    journal_title:JAMA neurology

    pub_type: 杂志文章

    doi:10.1001/jamaneurol.2017.1359

    authors: Mielke MM,Hagen CE,Wennberg AMV,Airey DC,Savica R,Knopman DS,Machulda MM,Roberts RO,Jack CR Jr,Petersen RC,Dage JL

    更新日期:2017-09-01 00:00:00

  • Clinical Presentation, Investigation Findings, and Treatment Outcomes of Spontaneous Intracranial Hypotension Syndrome: A Systematic Review and Meta-analysis.

    abstract:Importance:Spontaneous intracranial hypotension (SIH) is a highly disabling but often misdiagnosed disorder. The best management options for patients with SIH are still uncertain. Objective:To provide an objective summary of the available evidence on the clinical presentation, investigations findings, and treatment ou...

    journal_title:JAMA neurology

    pub_type: 杂志文章

    doi:10.1001/jamaneurol.2020.4799

    authors: D'Antona L,Jaime Merchan MA,Vassiliou A,Watkins LD,Davagnanam I,Toma AK,Matharu MS

    更新日期:2021-01-04 00:00:00

  • Diagnostic and Prognostic Utility of the Synaptic Marker Neurogranin in Alzheimer Disease.

    abstract:IMPORTANCE:Synaptic loss is an early pathologic substrate of Alzheimer disease (AD). Neurogranin is a postsynaptic neuronal protein that has demonstrated utility as a cerebrospinal fluid (CSF) marker of synaptic loss in AD. OBJECTIVE:To investigate the diagnostic and prognostic utility of CSF neurogranin levels in a l...

    journal_title:JAMA neurology

    pub_type: 杂志文章

    doi:10.1001/jamaneurol.2016.0086

    authors: Tarawneh R,D'Angelo G,Crimmins D,Herries E,Griest T,Fagan AM,Zipfel GJ,Ladenson JH,Morris JC,Holtzman DM

    更新日期:2016-05-01 00:00:00

  • Association of Sustained Immunotherapy With Disability Outcomes in Patients With Active Secondary Progressive Multiple Sclerosis.

    abstract:Importance:It is unclear whether relapses and disease-modifying therapies are associated with the rate of disability accumulation in patients with secondary progressive multiple sclerosis (SPMS). Objective:To examine the association of relapses with the rate of disability accumulation in patients with SPMS and to asse...

    journal_title:JAMA neurology

    pub_type: 杂志文章

    doi:10.1001/jamaneurol.2020.2453

    authors: Lizak N,Malpas CB,Sharmin S,Havrdova EK,Horakova D,Izquierdo G,Eichau S,Lugaresi A,Duquette P,Girard M,Prat A,Larochelle C,Trojano M,Grand'Maison F,Grammond P,Sola P,Ferraro D,Hupperts R,Bergamaschi R,Boz C,Van Pe

    更新日期:2020-07-27 00:00:00

  • Hereditary ataxia and spastic paraplegia in Portugal: a population-based prevalence study.

    abstract:IMPORTANCE:Epidemiological data on hereditary cerebellar ataxia (HCA) and hereditary spastic paraplegia (HSP) are scarce. OBJECTIVE:To present the prevalence and distribution of HCA and HSP in Portugal. DESIGN AND SETTING:Population-based, nationwide, systematic survey, from January 1, 1994, through April 15, 2004, i...

    journal_title:JAMA neurology

    pub_type: 杂志文章

    doi:10.1001/jamaneurol.2013.1707

    authors: Coutinho P,Ruano L,Loureiro JL,Cruz VT,Barros J,Tuna A,Barbot C,Guimarães J,Alonso I,Silveira I,Sequeiros J,Marques Neves J,Serrano P,Silva MC

    更新日期:2013-06-01 00:00:00

  • Prevalence of Invalid Performance on Baseline Testing for Sport-Related Concussion by Age and Validity Indicator.

    abstract:Importance:Estimated base rates of invalid performance on baseline testing (base rates of failure) for the management of sport-related concussion range from 6.1% to 40.0%, depending on the validity indicator used. The instability of this key measure represents a challenge in the clinical interpretation of test results ...

    journal_title:JAMA neurology

    pub_type: 杂志文章

    doi:10.1001/jamaneurol.2018.0031

    authors: Abeare CA,Messa I,Zuccato BG,Merker B,Erdodi L

    更新日期:2018-06-01 00:00:00

  • Sex and Race Differences in the Association of Incident Ischemic Stroke With Risk Factors.

    abstract:Importance:Race-specific and sex-specific stroke risk varies across the lifespan, yet few reports describe sex differences in stroke risk separately in black individuals and white individuals. Objective:To examine incidence and risk factors for ischemic stroke by sex for black and white individuals. Design, Setting, ...

    journal_title:JAMA neurology

    pub_type: 杂志文章

    doi:10.1001/jamaneurol.2018.3862

    authors: Howard VJ,Madsen TE,Kleindorfer DO,Judd SE,Rhodes JD,Soliman EZ,Kissela BM,Safford MM,Moy CS,McClure LA,Howard G,Cushman M

    更新日期:2019-02-01 00:00:00

  • New subtype of spinocerebellar ataxia with altered vertical eye movements mapping to chromosome 1p32.

    abstract:IMPORTANCE:To provide clinical and genetic diagnoses for patients' conditions, it is important to identify and characterize the different subtypes of spinocerebellar ataxia (SCA). OBJECTIVE:To clinically and genetically characterize a Spanish kindred with pure SCA presenting with altered vertical eye movements. DESIGN...

    journal_title:JAMA neurology

    pub_type: 杂志文章,多中心研究

    doi:10.1001/jamaneurol.2013.2311

    authors: Serrano-Munuera C,Corral-Juan M,Stevanin G,San Nicolás H,Roig C,Corral J,Campos B,de Jorge L,Morcillo-Suárez C,Navarro A,Forlani S,Durr A,Kulisevsky J,Brice A,Sánchez I,Volpini V,Matilla-Dueñas A

    更新日期:2013-06-01 00:00:00

  • Assessment of Safety and Efficacy of Safinamide as a Levodopa Adjunct in Patients With Parkinson Disease and Motor Fluctuations: A Randomized Clinical Trial.

    abstract:Importance:Although levodopa remains the most effective oral pharmacotherapy for Parkinson disease (PD), its use is often limited by wearing off effect and dyskinesias. Management of such complications continues to be a significant challenge. Objective:To investigate the efficacy and safety of safinamide (an oral amin...

    journal_title:JAMA neurology

    pub_type: 杂志文章,多中心研究,随机对照试验

    doi:10.1001/jamaneurol.2016.4467

    authors: Schapira AH,Fox SH,Hauser RA,Jankovic J,Jost WH,Kenney C,Kulisevsky J,Pahwa R,Poewe W,Anand R

    更新日期:2017-02-01 00:00:00

  • Clinical Characteristics of Patients With Double-Seronegative Myasthenia Gravis and Antibodies to Cortactin.

    abstract:IMPORTANCE:Double-seronegative myasthenia gravis (dSNMG) includes patients with myasthenia gravis (MG) without detectable antibodies to the nicotinic acetylcholine receptor (AChR) or to muscle-specific tyrosine kinase (MuSK). The lack of a biomarker hinders the diagnosis and clinical management in these patients. Corta...

    journal_title:JAMA neurology

    pub_type: 杂志文章

    doi:10.1001/jamaneurol.2016.2032

    authors: Cortés-Vicente E,Gallardo E,Martínez MÁ,Díaz-Manera J,Querol L,Rojas-García R,Illa I

    更新日期:2016-09-01 00:00:00

  • Factors Associated With 8-Year Mortality in Older Patients With Cerebral Small Vessel Disease: The Radboud University Nijmegen Diffusion Tensor and Magnetic Resonance Cohort (RUN DMC) Study.

    abstract:IMPORTANCE:Gait and cognition have been related to mortality in population-based studies. This association is possibly mediated by cerebral small vessel disease (SVD), which has been associated with mortality as well. It is unknown which factors can predict mortality in individuals with SVD. Identification of high-risk...

    journal_title:JAMA neurology

    pub_type: 杂志文章

    doi:10.1001/jamaneurol.2015.4560

    authors: van der Holst HM,van Uden IW,Tuladhar AM,de Laat KF,van Norden AG,Norris DG,van Dijk EJ,Rutten-Jacobs LC,de Leeuw FE

    更新日期:2016-04-01 00:00:00

  • Long-term Cognitive Outcomes in Patients With Pediatric-Onset vs Adult-Onset Multiple Sclerosis.

    abstract:Importance:Cognitive impairment in multiple sclerosis (MS) can lead to reduced quality of life, social functioning, and employment. Few studies have investigated cognitive outcomes among patients with pediatric-onset MS (POMS) over the long term. Objective:To compare long-term information-processing efficiency between...

    journal_title:JAMA neurology

    pub_type: 杂志文章

    doi:10.1001/jamaneurol.2019.1546

    authors: McKay KA,Manouchehrinia A,Berrigan L,Fisk JD,Olsson T,Hillert J

    更新日期:2019-06-17 00:00:00

  • Association of Late-Onset Unprovoked Seizures of Unknown Etiology With the Risk of Developing Dementia in Older Veterans.

    abstract:Importance:The incidence of unprovoked seizures and epilepsy increases considerably in late life, with approximately one-third of seizures being of unknown etiology. While individuals with dementia have a high risk of developing unprovoked seizures, it is unknown whether older adults with late-onset unprovoked seizures...

    journal_title:JAMA neurology

    pub_type: 杂志文章

    doi:10.1001/jamaneurol.2020.0187

    authors: Keret O,Hoang TD,Xia F,Rosen HJ,Yaffe K

    更新日期:2020-06-01 00:00:00

  • Preventing Cognitive Decline in Black Individuals With Mild Cognitive Impairment: A Randomized Clinical Trial.

    abstract:Importance:Mild cognitive impairment (MCI) is a transition state between normal cognitive aging and dementia that increases the risk for progressive cognitive decline. Preventing cognitive decline is a public health priority. Objective:To determine whether behavioral activation prevents cognitive and functional declin...

    journal_title:JAMA neurology

    pub_type: 杂志文章,随机对照试验

    doi:10.1001/jamaneurol.2018.2513

    authors: Rovner BW,Casten RJ,Hegel MT,Leiby B

    更新日期:2018-12-01 00:00:00

  • Comprehension of an Elevated Amyloid Positron Emission Tomography Biomarker Result by Cognitively Normal Older Adults.

    abstract:Importance:The goal of Alzheimer disease (AD) prevention together with advances in understanding the pathophysiology of AD have led to clinical trials testing drugs in cognitively unimpaired persons who show evidence of AD biomarkers. Data are needed to inform the processes of describing AD biomarkers to cognitively no...

    journal_title:JAMA neurology

    pub_type: 杂志文章,多中心研究

    doi:10.1001/jamaneurol.2017.2954

    authors: Mozersky J,Sankar P,Harkins K,Hachey S,Karlawish J

    更新日期:2018-01-01 00:00:00

  • SQSTM1 mutations in French patients with frontotemporal dementia or frontotemporal dementia with amyotrophic lateral sclerosis.

    abstract:IMPORTANCE:Mutations in the SQSTM1 gene, coding for p62, are a cause of Paget disease of bone and amyotrophic lateral sclerosis (ALS). Recently, SQSTM1 mutations were confirmed in ALS, and mutations were also identified in 3 patients with frontotemporal dementia (FTD), suggesting a role for SQSTM1 in FTD. OBJECTIVE:To...

    journal_title:JAMA neurology

    pub_type: 杂志文章

    doi:10.1001/jamaneurol.2013.3849

    authors: Le Ber I,Camuzat A,Guerreiro R,Bouya-Ahmed K,Bras J,Nicolas G,Gabelle A,Didic M,De Septenville A,Millecamps S,Lenglet T,Latouche M,Kabashi E,Campion D,Hannequin D,Hardy J,Brice A,French Clinical and Genetic Research Net

    更新日期:2013-11-01 00:00:00

  • Mycophenolate mofetil in the treatment of neuromyelitis optica spectrum disorder.

    abstract:IMPORTANCE:Neuromyelitis optica spectrum disorder (NMOSD) is an autoimmune inflammatory disorder of the central nervous system. Recently, various immunosuppressant medications were introduced as therapeutic options for preventing relapse of NMOSD. However, our understanding of the effectiveness of mycophenolate mofetil...

    journal_title:JAMA neurology

    pub_type: 杂志文章,多中心研究

    doi:10.1001/jamaneurol.2014.2057

    authors: Huh SY,Kim SH,Hyun JW,Joung AR,Park MS,Kim BJ,Kim HJ

    更新日期:2014-11-01 00:00:00

  • Association of Cerebrospinal Fluid Neurofilament Light Concentration With Alzheimer Disease Progression.

    abstract:IMPORTANCE:The extent to which large-caliber axonal degeneration contributes to Alzheimer disease (AD) progression is unknown. Cerebrospinal fluid (CSF) neurofilament light (NFL) concentration is a general marker of damage to large-caliber myelinated axons. OBJECTIVE:To test whether CSF NFL concentration is associated...

    journal_title:JAMA neurology

    pub_type: 杂志文章

    doi:10.1001/jamaneurol.2015.3037

    authors: Zetterberg H,Skillbäck T,Mattsson N,Trojanowski JQ,Portelius E,Shaw LM,Weiner MW,Blennow K,Alzheimer’s Disease Neuroimaging Initiative.

    更新日期:2016-01-01 00:00:00

  • Two Paradigms for Endovascular Thrombectomy After Intravenous Thrombolysis for Acute Ischemic Stroke.

    abstract:Importance:Intravenous thrombolysis (IVT) followed by mechanical thrombectomy (MT) is recommended to treat acute ischemic stroke (AIS) with a large vessel occlusion (LVO). Most hospitals do not have on-site MT facilities, and most patients need to be transferred secondarily after IVT (drip and ship), which may have an ...

    journal_title:JAMA neurology

    pub_type: 杂志文章

    doi:10.1001/jamaneurol.2016.5823

    authors: Gerschenfeld G,Muresan IP,Blanc R,Obadia M,Abrivard M,Piotin M,Alamowitch S

    更新日期:2017-05-01 00:00:00

  • The aging brain and cognition: contribution of vascular injury and aβ to mild cognitive dysfunction.

    abstract:IMPORTANCE:β-Amyloid (Aβ) deposition and vascular brain injury (VBI) frequently co-occur and are both associated with cognitive decline in aging. Determining whether a direct relationship exists between them has been challenging. We sought to understand VBI's influence on cognition and clinical impairment, separate fro...

    journal_title:JAMA neurology

    pub_type: 杂志文章

    doi:10.1001/2013.jamaneurol.405

    authors: Marchant NL,Reed BR,Sanossian N,Madison CM,Kriger S,Dhada R,Mack WJ,DeCarli C,Weiner MW,Mungas DM,Chui HC,Jagust WJ

    更新日期:2013-04-01 00:00:00

  • Association of pituitary adenylate cyclase-activating polypeptide with cognitive decline in mild cognitive impairment due to Alzheimer disease.

    abstract:IMPORTANCE:There is a deficit of pituitary adenylate cyclase-activating polypeptide (PACAP) in patients with neuropathologically confirmed Alzheimer dementia. However, whether this deficit is associated with the earlier stages of Alzheimer disease (AD) is unknown. This study was conducted to clarify the association bet...

    journal_title:JAMA neurology

    pub_type: 杂志文章

    doi:10.1001/jamaneurol.2014.3625

    authors: Han P,Caselli RJ,Baxter L,Serrano G,Yin J,Beach TG,Reiman EM,Shi J

    更新日期:2015-03-01 00:00:00

  • Emerging therapies for glioblastoma.

    abstract:IMPORTANCE:Glioblastoma is the most common primary malignant brain tumor, but despite multimodal treatment with surgery, radiotherapy, and temozolomide chemotherapy, the prognosis is poor, with a median survival of 16 to 19 months and poor quality of life throughout the disease course. New treatments are needed. EVIDE...

    journal_title:JAMA neurology

    pub_type: 杂志文章,评审

    doi:10.1001/jamaneurol.2014.1701

    authors: Thomas AA,Brennan CW,DeAngelis LM,Omuro AM

    更新日期:2014-11-01 00:00:00

  • Clonal expansion of secondary mitochondrial DNA deletions associated with spinocerebellar ataxia type 28.

    abstract:IMPORTANCE:Progressive external ophthalmoplegia (PEO) is a common feature in adults with mitochondrial (mt) DNA maintenance disorders associated with somatic mtDNA deletions in muscle, yet the causal genetic defect in many patients remains undetermined. OBSERVATIONS:Whole-exome sequencing identified a novel, heterozyg...

    journal_title:JAMA neurology

    pub_type: 杂志文章

    doi:10.1001/jamaneurol.2014.1753

    authors: Gorman GS,Pfeffer G,Griffin H,Blakely EL,Kurzawa-Akanbi M,Gabriel J,Sitarz K,Roberts M,Schoser B,Pyle A,Schaefer AM,McFarland R,Turnbull DM,Horvath R,Chinnery PF,Taylor RW

    更新日期:2015-01-01 00:00:00

  • R47H Variant of TREM2 Associated With Alzheimer Disease in a Large Late-Onset Family: Clinical, Genetic, and Neuropathological Study.

    abstract:IMPORTANCE:The R47H variant in the triggering receptor expressed on myeloid cells 2 gene (TREM2), a modulator of the immune response of microglia, is a strong genetic risk factor for Alzheimer disease (AD) and possibly other neurodegenerative disorders. OBJECTIVE:To investigate a large family with late-onset AD (LOAD)...

    journal_title:JAMA neurology

    pub_type: 杂志文章

    doi:10.1001/jamaneurol.2015.0979

    authors: Korvatska O,Leverenz JB,Jayadev S,McMillan P,Kurtz I,Guo X,Rumbaugh M,Matsushita M,Girirajan S,Dorschner MO,Kiianitsa K,Yu CE,Brkanac Z,Garden GA,Raskind WH,Bird TD

    更新日期:2015-08-01 00:00:00

  • Neurologic Phenotypes Associated With Mutations in RTN4IP1 (OPA10) in Children and Young Adults.

    abstract:Importance:Neurologic disorders with isolated symptoms or complex syndromes are relatively frequent among mitochondrial inherited diseases. Recessive RTN4IP1 gene mutations have been shown to cause isolated and syndromic optic neuropathies. Objective:To define the spectrum of clinical phenotypes associated with mutati...

    journal_title:JAMA neurology

    pub_type: 杂志文章

    doi:10.1001/jamaneurol.2017.2065

    authors: Charif M,Nasca A,Thompson K,Gerber S,Makowski C,Mazaheri N,Bris C,Goudenège D,Legati A,Maroofian R,Shariati G,Lamantea E,Hopton S,Ardissone A,Moroni I,Giannotta M,Siegel C,Strom TM,Prokisch H,Vignal-Clermont C,Der

    更新日期:2018-01-01 00:00:00