Results 11 to 20 of about 35,737,382 (164)

Genotype-phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder. [PDF]

Hum Genet, 2023
AbstractContactin-associated protein-like 2 (CNTNAP2) gene encodes for CASPR2, a presynaptic type 1 transmembrane protein, involved in cell–cell adhesion and synaptic interactions. Biallelic CNTNAP2 loss has been associated with “Pitt-Hopkins-like syndrome-1” (MIM#610042), while the pathogenic role of heterozygous variants remains controversial.
D'Onofrio G, Accogli A, Severino M, Caliskan H, Kokotović T, Blazekovic A, Jercic KG, Markovic S, Zigman T, Goran K, Barišić N, Duranovic V, Ban A, Borovecki F, Ramadža DP, Barić I, Fazeli W, Herkenrath P, Marini C, Vittorini R, Gowda V, Bouman A, Rocca C, Alkhawaja IA, Murtaza BN, Rehman MMU, Al Alam C, Nader G, Mancardi MM, Giacomini T, Srivastava S, Alvi JR, Tomoum H, Matricardi S, Iacomino M, Riva A, Scala M, Madia F, Pistorio A, Salpietro V, Minetti C, Rivière JB, Srour M, Efthymiou S, Maroofian R, Houlden H, Vernes SC, Zara F, Striano P, Nagy V.   +49 more
europepmc   +16 more sources

Molecular Architecture of Contactin-associated Protein-like 2 (CNTNAP2) and Its Interaction with Contactin 2 (CNTN2). [PDF]

J Biol Chem, 2016
Contactin-associated protein-like 2 (CNTNAP2) is a large multidomain neuronal adhesion molecule implicated in a number of neurological disorders, including epilepsy, schizophrenia, autism spectrum disorder, intellectual disability, and language delay. We reveal here by electron microscopy that the architecture of CNTNAP2 is composed of a large, medium,
Lu Z, Reddy MV, Liu J, Kalichava A, Liu J, Zhang L, Chen F, Wang Y, Holthauzen LM, White MA, Seshadrinathan S, Zhong X, Ren G, Rudenko G.   +13 more
europepmc   +8 more sources

Distinct movement disorders in contactin-associated-protein-like-2 antibody-associated autoimmune encephalitis [PDF]

Brain, 2022
Abstract Autoimmune encephalitis can be classified into antibody-defined subtypes, which can manifest with immunotherapy-responsive movement disorders sometimes mimicking non-inflammatory aetiologies. In the elderly, anti-LGI1 and contactin associated protein like 2 (CASPR2) antibody-associated diseases compose a relevant fraction of ...
Gövert, F, Abrante, L, Becktepe, J, Balint, B, Ganos, C, Hofstadt-van Oy, U, Krogias, C, Varley, J, Irani, SR, Paneva, S, Titulaer, MJ, de Vries, JM, Boon, AJW, Schreurs, MWJ, Joubert, B, Honnorat, J, Vogrig, A, Ariño, H, Sabater, L, Dalmau, J, Scotton, S, Jacob, S, Melzer, N, Bien, CG, Geis, C, Lewerenz, J, Prüss, H, Wandinger, K-P, Deuschl, G, Leypoldt, F   +29 more
core   +8 more sources

Synaptic abnormalities and cytoplasmic glutamate receptor aggregates in contactin associated protein-like 2/Caspr2 knockout neurons. [PDF]

Proc Natl Acad Sci U S A, 2015
Significance In this paper, we characterize, for the first time to our knowledge, synaptic phenotypes in contactin associated protein-like 2 ( Cntnap2 ) knockout neurons and reveal a novel role for CNTNAP2 in the correct trafficking of AMPA-type glutamate receptors.
Varea O, Martin-de-Saavedra MD, Kopeikina KJ, Schürmann B, Fleming HJ, Fawcett-Patel JM, Bach A, Jang S, Peles E, Kim E, Penzes P.   +10 more
europepmc   +8 more sources

Contactin-associated protein 2 autoantibodies can be associated with multifocal motor-like neuropathy: a case report

Therapeutic Advances in Neurological Disorders, 2023
Autoantibodies against contactin-associated protein 2 (CASPR2) are usually associated with autoimmune encephalitis and neuromyotonia. Their association with inflammatory neuropathies has been described in case reports albeit all with distal symmetric ...
Louisa Müller-Miny, Raoul Sauer, Andreas Schulte-Mecklenbeck, Catharina C. Gross, Stjepana Kovac, Matthias Schilling, Carolin Beuker, Heinz Wiendl, Gerd Meyer zu Hörste   +8 more
doaj   +2 more sources

Correction: The Autism Related Protein Contactin-Associated Protein-Like 2 (CNTNAP2) Stabilizes New Spines: An In Vivo Mouse Study. [PDF]

PLoS ONE, 2015
Amos Gdalyahu, Maria Lazaro, Olga Penagarikano, Peyman Golshani, Joshua T Trachtenberg, Daniel H Geschwind   +5 more
doaj   +4 more sources

Autoimmune Parkinsonism: A Newer Manifestation of Contactin-Associated Protein-Like 2 Autoimmunity: A Case Report [PDF]

International Clinical Neuroscience Journal, 2023
Contactin-associated protein-like 2 (CASPR2) antibodies are part of an expanding spectrum of disorders. Although they were initially associated with Morvan’s syndrome and peripheral nerve hyperexcitability, their clinical manifestations are more varied than previously recognized.
Mohan V. Sumedha Maturu, Aravind Varma Datla, Rajesh Babu Devabhaktuni, Prajwala Maturu, Deepak Sahebrao Mandwe   +4 more
openaire   +2 more sources

Molecular Cytogenetic Analysis and Resequencing of Contactin Associated Protein-Like 2 in Autism Spectrum Disorders [PDF]

The American Journal of Human Genetics, 2008
Autism spectrum disorders (ASD) are a group of related neurodevelopmental syndromes with complex genetic etiology. We identified a de novo chromosome 7q inversion disrupting Autism susceptibility candidate 2 (AUTS2) and Contactin Associated Protein-Like 2 (CNTNAP2) in a child with cognitive and social delay.
State, Matthew W., Lifton, Richard P., Gunel, Murat, Biederer, Thomas, Geschwind, Daniel H., Robbins, Elissa M., Duvall, Jackie A., Abrahams, Brett S., Tanriover, Gamze, Stillman, Althea A., Ercan-Sencicek, A. Gulhan, Klin, Ami, Chawarska, Katarzyna, Morgan, Thomas M., Abelson, Jesse E., Gupta, Abha R., Louvi, Angeliki, O'Roak, Brian J., Bakkaloglu, Betul   +18 more
openaire   +5 more sources

Immunotherapy-Resistant Neuropathic Pain and Fatigue Predict Quality-of-Life in Contactin-Associated Protein-Like 2 Antibody Disease. [PDF]

Ann Neurol
The long‐term clinical outcomes and associated prognostic factors in contactin‐associated protein‐like 2 (CASPR2)‐antibody diseases are unknown. A total of 75 participants with CASPR2 antibodies were longitudinally assessed for disability, quality‐of‐life, and chronic pain.
Ceronie B, Strippel C, Uy C, Paneva S, Makuch M, Soleimani B, Turaga S, Binks S, Ramanathan S, Michael S, Varley J, Easton A, Themistocleous A, Dawes J, Bennett DL, Irani A, Handel AE, Irani SR.   +17 more
europepmc   +5 more sources

Early-Stage Contactin-Associated Protein-like 2 Limbic Encephalitis: Clues for Diagnosis. [PDF]

Neurol Neuroimmunol Neuroinflamm, 2023
Previous studies suggested that autoimmune limbic encephalitis with antibodies against contactin-associated protein-like 2 (CASPR2-encephalitis) is clinically heterogeneous and progresses slowly, preventing its early recognition. We aimed to describe the onset and progression of CASPR2-encephalitis and to assess long-term outcomes.We retrospectively ...
Benoit J, Muñiz-Castrillo S, Vogrig A, Farina A, Pinto AL, Picard G, Rogemond V, Guery D, Alentorn A, Psimaras D, Rheims S, Honnorat J, Joubert B.   +12 more
europepmc   +4 more sources