A role of autoimmunity in the etiopathogenesis of Landau-Kleffner syndrome?

Nevšímalová, Soňa; Tauberová, A.; Doutlík, S; Kucera, V; Dlouhá, O

doi:10.1016/s0387-7604(12)80157-4

Cited by 45 publications

(16 citation statements)

References 10 publications

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“…Pertinent to the present study is the suggestion that autoimmunity may also be involved in neurodevelopmental disorders that include language deficits: a positive autoimmune reaction to myelin was detected in children with Landau-Kleffner syndrome, a disorder characterized by aphasia and epileptic seizures [8]. Autoantibodies that react with brain tissue have been found in a relatively large number of children with an atypical variant of Landau-Kleffner syndrome and autism compared with controls.…”

Section: Introductionmentioning

confidence: 65%

Associations of HLA alleles with specific language impairment

Simpson

Baird

O’Hare

et al. 2014

J Neurodevelop Disord

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BackgroundHuman leukocyte antigen (HLA) loci have been implicated in several neurodevelopmental disorders in which language is affected. However, to date, no studies have investigated the possible involvement of HLA loci in specific language impairment (SLI), a disorder that is defined primarily upon unexpected language impairment. We report association analyses of single-nucleotide polymorphisms (SNPs) and HLA types in a cohort of individuals affected by language impairment.MethodsWe perform quantitative association analyses of three linguistic measures and case-control association analyses using both SNP data and imputed HLA types.ResultsQuantitative association analyses of imputed HLA types suggested a role for the HLA-A locus in susceptibility to SLI. HLA-A A1 was associated with a measure of short-term memory (P = 0.004) and A3 with expressive language ability (P = 0.006). Parent-of-origin effects were found between HLA-B B8 and HLA-DQA1*0501 and receptive language. These alleles have a negative correlation with receptive language ability when inherited from the mother (P = 0.021, P = 0.034, respectively) but are positively correlated with the same trait when paternally inherited (P = 0.013, P = 0.029, respectively). Finally, case control analyses using imputed HLA types indicated that the DR10 allele of HLA-DRB1 was more frequent in individuals with SLI than population controls (P = 0.004, relative risk = 2.575), as has been reported for individuals with attention deficit hyperactivity disorder (ADHD).ConclusionThese preliminary data provide an intriguing link to those described by previous studies of other neurodevelopmental disorders and suggest a possible role for HLA loci in language disorders.

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Section: Introductionmentioning

confidence: 65%

Associations of HLA alleles with specific language impairment

Simpson

Baird

O’Hare

et al. 2014

J Neurodevelop Disord

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“…A role of autoimmunity in the etiopathogenesis of LKS has been suggested originally by Nevsímalová et al. (1992) based on the observation of a positive autoimmune reaction to central and peripheral myelin during the attacks of clinical worsening in four children with LKS.…”

Section: Landau‐kleffner Syndrome and Continuous Spikewaves During Slmentioning

confidence: 99%

“…A role of autoimmunity in the etiopathogenesis of LKS has been suggested originally by Nevsímalovµ et al (1992) based on the observation of a positive autoimmune reaction to central and peripheral myelin during the attacks of clinical worsening in four children with LKS. A significant improvement of speech function and autoimmune reaction during corticosteroid treatment was observed, suggesting a pathogenetic role of autoimmunity.…”

Section: Landau-kleffner Syndrome and Continuous Spikewaves Duringmentioning

confidence: 99%

Immune‐mediated epilepsies

Granata

Cross²,

Theodore

et al. 2011

Epilepsia

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Summary A pathogenic role of immunity in epilepsies has long been suggested based on observations of the efficacy of immune-modulating treatments and, more recently, by the finding of inflammation markers including autoantibodies in individuals with a number of epileptic disorders. Clinical and experimental data suggest that both innate and adaptive immunity may be involved in epilepsy. Innate immunity represents an immediate, nonspecific host response against pathogens via activation of resident brain immune cells and inflammatory mediators. These are hypothesized to contribute to seizures and epileptogenesis. Adaptive immunity employs activation of antigen-specific B and T lymphocytes or antibodies in the context of viral infections and autoimmune disorders. In this article we critically review the evidence for pathogenic roles of adaptive immune responses in several types of epilepsy, and discuss potential mechanisms and therapeutic targets. We highlight future directions for preclinical and clinical research that are required for improved diagnosis and treatment of immune-mediated epilepsies.

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“…These questions extend to whether there are similarities in the range of etiologies that result in abnormal brain function. While the etiology for AEA and CSWS is unknown, autoimmune abnormalities of the type found in RASD have long been implicated (Connolly et al 2001;Connolly et al 2006;Connolly et al 2003;Nevsimalova et al 1992). However, there is very little known about potential genetic contributions to these disorders.…”

Section: Rasd In Relation To Epileptiform Disordersmentioning

confidence: 99%

Regression in Autistic Spectrum Disorders

2008

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A significant proportion of children diagnosed with Autistic Spectrum Disorder experience a developmental regression characterized by a loss of previously-acquired skills. This may involve a loss of speech or social responsitivity, but often entails both. This paper critically reviews the phenomena of regression in autistic spectrum disorders, highlighting the characteristics of regression, age of onset, temporal course, and long-term outcome. Important considerations for diagnosis are discussed and multiple etiological factors currently hypothesized to underlie the phenomenon are reviewed. It is argued that regressive autistic spectrum disorders can be conceptualized on a spectrum with other regressive disorders that may share common pathophysiological features. The implications of this viewpoint are discussed.

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A role of autoimmunity in the etiopathogenesis of Landau-Kleffner syndrome?

Cited by 45 publications

References 10 publications

Associations of HLA alleles with specific language impairment

Associations of HLA alleles with specific language impairment

Immune‐mediated epilepsies

Regression in Autistic Spectrum Disorders

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