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26 results on '"Haberlova, Jana"'

1. EURO-NMD registry: federated FAIR infrastructure, innovative technologies and concepts of a patient-centred registry for rare neuromuscular disorders

Author

Atalaia, Antonio, Wandrei, Dagmar, Lalout, Nawel, Thompson, Rachel, Tassoni, Adrian, ’t Hoen, Peter A. C., Athanasiou, Dimitrios, Baker, Suzie-Ann, Sakellariou, Paraskevi, Paliouras, Georgios, D’Angelo, Carla, Horvath, Rita, Mancuso, Michelangelo, van der Beek, Nadine, Kornblum, Cornelia, Kirschner, Janbernd, Pareyson, Davide, Bassez, Guillaume, Blacas, Laura, Jacoupy, Maxime, Eng, Catherine, Lamy, François, Plançon, Jean-Philippe, Haberlova, Jana, Brusse, Esther, Hoeijmakers, Janneke G. J., de Visser, Marianne, Claeys, Kristl G., Paradas, Carmen, Toscano, Antonio, Silani, Vincenzo, Gyenge, Melinda, Reviers, Evy, Hamroun, Dalil, Vroom, Elisabeth, Wilkinson, Mark D., Lochmuller, Hanns, and Evangelista, Teresinha

Published
2024
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2. 2024 update: European consensus statement on gene therapy for spinal muscular atrophy

Author

Kirschner, Janbernd, Bernert, Günther, Butoianu, Nina, De Waele, Liesbeth, Fattal-Valevski, Aviva, Haberlova, Jana, Moreno, Teresa, Klein, Andrea, Kostera-Pruszczyk, Anna, Mercuri, Eugenio, Quijano-Roy, Susana, Sejersen, Thomas, Tizzano, Eduardo F., van der Pol, W Ludo, Wallace, Sean, Zafeiriou, Dimitrios, Ziegler, Andreas, Muntoni, Francesco, and Servais, Laurent

Published
2024
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3. Diagnostic interest of whole-body MRI in early- and late-onset LAMA2 muscular dystrophies: a large international cohort

Author

Quijano-Roy, Susana, Haberlova, Jana, Castiglioni, Claudia, Vissing, John, Munell, Francina, Rivier, François, Stojkovic, Tanya, Malfatti, Edoardo, Gómez García de la Banda, Marta, Tasca, Giorgio, Costa Comellas, Laura, Benezit, Audrey, Amthor, Helge, Dabaj, Ivana, Gontijo Camelo, Clara, Laforêt, Pascal, Rendu, John, Romero, Norma B., Cavassa, Eliana, Fattori, Fabiana, Beroud, Christophe, Zídková, Jana, Leboucq, Nicolas, Løkken, Nicoline, Sanchez-Montañez, Ángel, Ortega, Ximena, Kynčl, Martin, Metay, Corinne, Gómez-Andrés, David, and Carlier, Robert Y.

Published
2022
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4. Newborn screening programs for spinal muscular atrophy worldwide: Where we stand and where to go

Author

Adoukonou, Thierry, Aryani, Omid, Barisic, Nina, Bashiri, Fahad, Bastaki, Laila, Benitto, Afaf, Omran, Tawfeg Ben, Bernert, Guenther, Bertini, Enrico, Borde, Patricia, Born, Peter, Boustani, Rose-Mary, Butoianu, Nina, Castiglioni, Claudia, Catibusic, Feriha, Chan, Sophelia, Chien, Yin Hsiu, Christodoulou, Kyproula, Dejsuphong, Donniphat, Farrar, Michelle, Filip, Duma, Goemans, Nathalie, Guinhouya, Kokou, Haberlova, Jana, Hadzsiev, Kinga, Hovhannesyan, Kristine, Isohanni, Pirjo, Radovic, Nelica Ivanovic, Jacquier, David, Jalloh, Alusine, Jedrzejowska, Maria, Kandawasvika, Gwen, Kaputu, Celestin, Kawatu, Nfwama, Kernohan, Kristin, Kirschner, Jan, Klink, Barbara, Kodsy, Sherry, Kouame-Assouan, Ange-Eric, Kravljanac, Ruzica, Kreile, Madara, Litvinenko, Ivan, McMillan, Hugh, Mesa, Sandra, Mohamed, Inaam, Kanzoska, Liljana Muaremoska, Nevo, Yoram, Nguefack, Seraphin, Nkole, Kafula, O'Grady, Gina, O'Rourke, Declan, Oskoui, Maryam, Piazzon, Flavia, Poddighe, Dimitri, Prasauskiene, Audrone, Prieto, Juan, Rasmussen, Magnhild, Razafindrasata, Santara, Saha, Narayan, Saito, Kayoko, Sakadi, Foksouna, Sangare, Modibo, Schroth, Mary, Shalkevich, Leanid, Shatillo, Andriy, Suthar, Renu, Szabo, Lena, Tatishvili, Nana, Tazir, Meriem, Tizzano, Eduardo, Topaloglu, Haluk, Tulinius, Mar, van der Pol, Ludo, Vazquez, Gabriel, Vlodavets, Dimitry, Wanigasinghe, Jithangi, Wilmshurst, Jo, Xiong, Hui, Zafeiriou, Dimitrios, Zamba, Eleni, Dangouloff, Tamara, Vrščaj, Eva, Servais, Laurent, and Osredkar, Damjan

Published
2021
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6. Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness

Author

Töpf, Ana, Johnson, Katherine, Bates, Adam, Phillips, Lauren, Chao, Katherine R., England, Eleina M., Laricchia, Kristen M., Mullen, Thomas, Valkanas, Elise, Xu, Liwen, Bertoli, Marta, Blain, Alison, Casasús, Ana B., Duff, Jennifer, Mroczek, Magdalena, Specht, Sabine, Lek, Monkol, Ensini, Monica, MacArthur, Daniel G., Akay, Ela, Alonso-Pérez, Jorge, Baets, Jonathan, Barisic, Nina, Bastian, Alexandra, Borell, Sabine, Chamova, Teodora, Claeys, Kristl, Colomer, Jaume, Coppens, Sandra, Deconinck, Nicolas, de Ridder, Willem, Díaz-Manera, Jordi, Domínguez-González, Cristina, Duncan, Alexis, Durmus, Hacer, Fahmy, Nagia A., Farrugia, Maria Elena, Fernández-Torrón, Roberto, Gonzalez-Quereda, Lidia, Haberlova, Jana, von der Hagen, Maja, Hahn, Andreas, Jakovčević, Antonia, Jerico Pascual, Ivonne, Kapetanovic, Solange, Kenina, Viktorija, Kirschner, Janbernd, Klein, Andrea, Kölbel, Heike, Kostera-Pruszczyk, Anna, Kulshrestha, Richa, Lähdetie, Jaana, Layegh, Mahsa, Longman, Cheryl, López de Munain, Adolfo, Loscher, Wolfgang, Lusakowska, Anna, Maddison, Paul, Magot, Armelle, Majumdar, Anirban, Martí, Pilar, Martínez Arroyo, Amaia, Mazanec, Radim, Mercier, Sandra, Mongini, Tiziana, Muelas, Nuria, Nascimento, Andrés, Nafissi, Shahriar, Omidi, Shirin, Ortez, Carlos, Paquay, Stéphanie, Pereon, Yann, Perić, Stojan, Ponzalino, Valentina, Rakočević Stojanović, Vidosava, Remiche, Gauthier, Rodríguez Sainz, Aida, Rudnik, Sabine, Sanchez Albisua, Iciar, Santos, Manuela, Schara, Ulrike, Shatillo, Andriy, Sertić, Jadranka, Stephani, Ulrich, Strang-Karlsson, Sonja, Sznajer, Yves, Tanev, Ani, Tournev, Ivailo, Van den Bergh, Peter, Van Parijs, Vinciane, Vílchez, Juan, Vill, Katharina, Vissing, John, Wallgren-Pettersson, Carina, Wanschitz, Julia, Willis, Tracey, Witting, Nanna, Zulaica, Miren, and Straub, Volker

Published
2020
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9. European muscle MRI study in limb girdle muscular dystrophy type R1/2A (LGMDR1/LGMD2A)

Author

Barp, Andrea, Laforet, Pascal, Bello, Luca, Tasca, Giorgio, Vissing, John, Monforte, Mauro, Ricci, Enzo, Choumert, Ariane, Stojkovic, Tanya, Malfatti, Edoardo, Pegoraro, Elena, Semplicini, Claudio, Stramare, Roberto, Scheidegger, Olivier, Haberlova, Jana, Straub, Volker, Marini-Bettolo, Chiara, Løkken, Nicoline, Diaz-Manera, Jordi, Urtizberea, Jon A., Mercuri, Eugenio, Kynčl, Martin, Walter, Maggie C., and Carlier, Robert Y.

Published
2020
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10. Selected items from the Charcot-Marie-Tooth (CMT) Neuropathy Score and secondary clinical outcome measures serve as sensitive clinical markers of disease severity in CMT1A patients

Author

Mannil, Manoj, Solari, Alessandra, Leha, Andreas, Pelayo-Negro, Ana L., Berciano, José, Schlotter-Weigel, Beate, Walter, Maggie C., Rautenstrauss, Bernd, Schnizer, Tuuli J., Schenone, Angelo, Seeman, Pavel, Kadian, Chandini, Schreiber, Olivia, Angarita, Natalia G., Fabrizi, Gian Maria, Gemignani, Franco, Padua, Luca, Santoro, Lucio, Quattrone, Aldo, Vita, Giuseppe, Calabrese, Daniela, Young, Peter, Laurà, Matilde, Haberlová, Jana, Mazanec, Radim, Paulus, Walter, Beissbarth, Tim, Shy, Michael E., Reilly, Mary M., Pareyson, Davide, and Sereda, Michael W.

Published
2014
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12. A new patient with congenital myasthenic syndrome type 20 due to compound heterozygous missense SLC5A7 variants suggests trends in genotype–phenotype correlation.

Author

Vlckova, Marketa, Prchalova, Darina, Zimmermann, Pavel, Haberlova, Jana, Bendova, Sarka, Moslerova, Veronika, Stranecky, Viktor, Sedlacek, Zdenek, and Hancarova, Miroslava

Subjects
CONGENITAL myasthenic syndromes, HETEROZYGOSITY, MISSENSE mutation, MUSCLE weakness, AGENESIS of corpus callosum, INTELLECTUAL disabilities, RARE diseases
Abstract

Background: Congenital myasthenic syndromes (CMSs) are characterized by hypotonia, episodic apnea, muscle weakness, ptosis and generalized fatigability. CMS type 20 (CMS20) is a rare disorder caused by variants in SLC5A7. In contrast to most other CMSs, CMS20 is also associated with neurodevelopmental disorders (NDDs). Only 19 patients from 14 families have been reported so far. Methods: We studied a 12‐year‐old boy with symptoms manifested at six weeks of age. Later, he also showed speech delay, moderate intellectual disability and autism. Analysis of CMS genes known at the time of clinical diagnosis yielded no results. Trio exome sequencing (ES) was performed. Results: ES revealed compound heterozygosity for two SLC5A7 variants, p.(Asn431Lys) and p.(Ile291Thr). While the first variant was absent from all databases, the second variant has already been described in one patient. In silico analysis of known pathogenic SLC5A7 variants showed that variants with a higher predicted deleteriousness may be associated with earlier onset and increased severity of neuromuscular manifestations. Conclusion: Our patient confirms that CMS20 can be associated with NDDs. The study illustrates the strength of ES in deciphering the genetic basis of rare diseases, contributes to characterization of CMS20 and suggests trends in genotype–phenotype correlation in CMS20. [ABSTRACT FROM AUTHOR]

Published
2023
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13. Mapping the differences in care for 5,000 Spinal Muscular Atrophy patients, a survey of 24 national registries in North America, Australasia and Europe

Author

Bladen, Catherine L., Thompson, Rachel, Jackson, Jacqueline M., Garland, Connie, Wegel, Claire, Ambrosini, Anna, Pisano, Paolo, Walter, Maggie C., Schreiber, Olivia, Lusakowska, Anna, Jedrzejowska, Maria, Kostera-Pruszczyk, Anna, van der Pol, Ludo, Wadman, Renske I., Gredal, Ole, Karaduman, Ayse, Topaloglu, Haluk, Yilmaz, Oznur, Matyushenko, Vitaliy, Rasic, Vedrana Milic, Kosac, Ana, Karcagi, Veronika, Garami, Marta, Herczegfalvi, Agnes, Monges, Soledad, Moresco, Angelica, Chertkoff, Lilien, Chamova, Teodora, Guergueltcheva, Velina, Butoianu, Niculina, Craiu, Dana, Korngut, Lawrence, Campbell, Craig, Haberlova, Jana, Strenkova, Jana, Alejandro, Moises, Jimenez, Alatorre, Ortiz, Genaro Gabriel, Enriquez, Gracia Viviana Gonzalez, Rodrigues, Miriam, Roxburgh, Richard, Dawkins, Hugh, Youngs, Leanne, Lahdetie, Jaana, Angelkova, Natalija, Saugier-Veber, Pascal, Cuisset, Jean-Marie, Bloetzer, Clemens, Jeannet, Pierre-Yves, Klein, Andrea, Nascimento, Andres, Tizzano, Eduardo, Salgado, David, Mercuri, Eugenio, Sejersen, Thomas, Kirschner, Jan, Rafferty, Karen, Straub, Volker, Bushby, Kate, Verschuuren, Jan, Beroud, Christophe, and Lochmüller, Hanns

Published
2014
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14. The emerging spectrum of neurodevelopmental comorbidities in early-onset Spinal Muscular Atrophy

Author

Roy, Susana Quijano, Servais, Laurent, Munell, Francina, Molinero, Mireia Alvarez, Natera de Benito, Daniel, Nascimento, Andres, Gomez-Andres, David, Comellas, Laura Costa, Exposito, Jessica, Tizzano, Eduardo F., Cuppen, Inge, Van der Pol, Ludo, Aleman, Alberto, Lochmuller, Hanns, McMillan, Hugh, Kirschner, Janbernd, Müller, Cornelia, Oskoui, Maryam, Masson, Riccardo, Bruno, Claudio, Gonorazky, Hernan D., Tesi-Rocha, Carolina, Yaworski, Amanda Marie, Zanoteli, Edmar, Mendonca, Rodrigo, D'Amico, Adele, Cumbo, Francesca, Tosi, Michele, Pane, Marika, Mercuri, Eugenio, Nardes, Flavia, Prufer, Alexandra, Arci, Brenda Klemm, Pascual, Samuel Ignacio, Fattal-Valevski, Aviva, De Waele, Liesbeth, Deconinck, Nicolas, Farrar, Michelle, Haberlova, Jana, Gomez-Garcia de la Banda, Marta, Childs, Anne-Marie, Martos, Cristina, Wraige, Elizabeth, Gowda, Vasantha, Illingworth, Marjorie, Ong, Min, Majundar, Anirban, Hughes, Imelda, Torne, Krupa, Willis, Tracey, Ramdas, Sithara, De Goede, Christian, Erbas, Yasemin, Brusa, Chiara, Scoto, Mariacristina, Muntoni, Francesco, and Baranello, Giovanni

Published
2024
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16. Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies

Author

Safka Brozkova, Dana, Deconinck, Tine, Beth Griffin, Laurie, Ferbert, Andreas, Haberlova, Jana, Mazanec, Radim, Lassuthova, Petra, Roth, Christian, Pilunthanakul, Thanita, Rautenstrauss, Bernd, Janecke, Andreas R., Zavadakova, Petra, Chrast, Roman, Rivolta, Carlo, Zuchner, Stephan, Antonellis, Anthony, Beg, Asim A., De Jonghe, Peter, Senderek, Jan, Seeman, Pavel, and Baets, Jonathan

Published
2015
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18. Efficacy and Safety of Vamorolone vs Placebo and Prednisone Among Boys With Duchenne Muscular Dystrophy: A Randomized Clinical Trial.

Author

Guglieri, Michela, Clemens, Paula R., Perlman, Seth J., Smith, Edward C., Horrocks, Iain, Finkel, Richard S., Mah, Jean K., Deconinck, Nicolas, Goemans, Nathalie, Haberlova, Jana, Straub, Volker, Mengle-Gaw, Laurel J., Schwartz, Benjamin D., Harper, Amy D., Shieh, Perry B., De Waele, Liesbeth, Castro, Diana, Yang, Michelle L., Ryan, Monique M., and McDonald, Craig M.

Published
2022
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19. A progressive KY myopathy could be caused by a missense pathogenic variant.

Author

Uhrova‐Meszarosova, Anna, Vlckova, Marketa, Rennerova, Ladislava, Haberlova, Jana, Zamecnik, Josef, Seeman, Pavel, and Safka‐Brozkova, Dana

Subjects
MISSENSE mutation, NEMALINE myopathy, FAMILIAL spastic paraplegia, MUSCLE diseases, REFLEXES, NEUROMUSCULAR diseases
Abstract

3 Ebrahimzadeh-Vesal R, Teymoori A, Dourandish AM, Azimi-Nezhad M. Identification of a novel nonsense mutation in kyphoscoliosis peptidase gene in an Iranian patient with myofibrillar myopathy. The patient had atrophy of the calf muscles (Figure 1A) with fatty infiltration. [Extracted from the article]

Published
2023
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20. Hereditary Spastic Paraplegia 3A Associated With Axonal Neuropathy

Author

Ivanova, Neviana, Claeys, Kristl G., Deconinck, Tine, Litvinenko, Ivan, Jordanova, Albena, Auer-Grumbach, Michaela, Haberlova, Jana, Löfgren, Ann, Smeyers, Gisele, Nelis, Eva, Mercelis, Rudy, Plecko, Barbara, Priller, Josef, Zámečník, Josef, Ceulemans, Berten, Erichsen, Anne Kjersti, Björck, Erik, Nicholson, Garth, Sereda, Michael W., Seeman, Pavel, Kremensky, Ivo, Mitev, Vanio, and De Jonghe, Peter

Published
2007

21. Recombinant Adeno-Associated Virus Serotype 9 Gene Therapy in Spinal Muscular Atrophy.

Author

Kotulska, Katarzyna, Fattal-Valevski, Aviva, and Haberlova, Jana

Subjects
SPINAL muscular atrophy, GENE therapy, ADENO-associated virus, RECOMBINANT viruses, NEUROMUSCULAR diseases, FOOT & mouth disease
Abstract

Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease caused by deletion or mutation of the SMN1 gene. It is characterized by a progressive loss of motor neurons resulting in muscle weakness. The disease affects 1 in 11,000 live births and before the era of treatment SMA was a leading genetic cause of mortality in infants. Recently, disease modifying therapies have been introduced in clinical practice. They include intrathecal and oral antisense oligonucleotides binding to pre-mRNA of SMN2 gene and increasing the translation of fully functional SMN protein as well as SMN1 gene replacement therapy. Onasemnogene abeparvovec uses the adeno-associated virus 9 (AAV9) vector to deliver the SMN1 gene. Phase 1 and phase 3 clinical trials showed that a single administration of onasemnogene abeparvovec resulted in improvement of motor functions in the majority of infants with SMA. Currently, phase 3 trials in SMA1 and SMA2 patients, as well as presymptomatic infants diagnosed with SMA, are ongoing. The drug was approved for medical use in the US in 2019, and in Japan and the European Union in 2020. Thus, first real-world data on efficacy and safety of onasemnogene abeparvovec in SMA patients are available. [ABSTRACT FROM AUTHOR]

Published
2021
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22. Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2

Author

Lassuthova, Petra, Rebelo, Adriana P., Ravenscroft, Gianina, Lamont, Phillipa J., Davis, Mark R., Manganelli, Fiore, Feely, Shawna M., Bacon, Chelsea, Brožková, Dana Šafka, Haberlova, Jana, Mazanec, Radim, Tao, Feifei, Saghira, Cima, Abreu, Lisa, Courel, Steve, Powell, Eric, Buglo, Elena, Bis, Dana M., Baxter, Megan F., Ong, Royston W., Marns, Lorna, Lee, Yi-Chung, Bai, Yunhong, Isom, Daniel G., Barro-Soria, René, Chung, Ki W., Scherer, Steven S., Larsson, H. Peter, Laing, Nigel G., Choi, Byung-Ok, Seeman, Pavel, Shy, Michael E., Santoro, Lucio, and Zuchner, Stephan

Published
2018
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24. Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies.

Author

Brozkova, Dana Safka, Deconinck, Tine, Griffin, Laurie Beth, Ferbert, Andreas, Haberlova, Jana, Mazanec, Radim, Lassuthova, Petra, Roth, Christian, Pilunthanakul, Thanita, Rautenstrauss, Bernd, Janecke, Andreas R., Zavadakova, Petra, Chrast, Roman, Rivolta, Carlo, Zuchner, Stephan, Antonellis, Anthony, Beg, Asim A., De Jonghe, Peter, Senderek, Jan, and Seeman, Pavel

Abstract

Inherited peripheral neuropathies are a genetically heterogeneous group of disorders characterized by distal muscle weakness and sensory loss. Mutations in genes encoding aminoacyl-tRNA synthetases have been implicated in peripheral neuropathies, suggesting that these tRNA charging enzymes are uniquely important for the peripheral nerve. Recently, a mutation in histidyl-tRNA synthetase (HARS) was identified in a single patient with a late-onset, sensory-predominant peripheral neuropathy; however, the genetic evidence was lacking, making the significance of the finding unclear. Here, we present clinical, genetic, and functional data that implicate HARS mutations in inherited peripheral neuropathies. The associated phenotypic spectrum is broad and encompasses axonal and demyelinating motor and sensory neuropathies, including four young patients presenting with pure motor axonal neuropathy. Genome-wide linkage studies in combination with whole-exome and conventional sequencing revealed four distinct and previously unreported heterozygous HARS mutations segregating with autosomal dominant peripheral neuropathy in four unrelated families (p.Thr132Ile, p.Pro134His, p.Asp175Glu and p.Asp364Tyr). All mutations cause a loss of function in yeast complementation assays, and p.Asp364Tyr is dominantly neurotoxic in a Caenorhabditis elegans model. This study demonstrates the role of HARS mutations in peripheral neuropathy and expands the genetic and clinical spectrum of aminoacyl-tRNA synthetase-related human disease. [ABSTRACT FROM AUTHOR]

Published
2015
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25. Homozygous EXOSC3 Mutation c.92G→C, p.G31A is a Founder Mutation Causing Severe Pontocerebellar Hypoplasia Type 1 Among the Czech Roma.

Author

Schwabova, Jaroslava, Brozkova, Dana Safka, Petrak, Borivoj, Mojzisova, Mahulena, Pavlickova, Klara, Haberlova, Jana, Mrazkova, Lenka, Hedvicakova, Petra, Hornofova, Ludmila, Kaluzova, Marie, Fencl, Filip, Krutova, Marcela, Zamecnik, Josef, and Seeman, Pavel

Subjects
GENETIC mutation, NEURODEGENERATION, GENETIC disorders, HEALTH of Romanies, SPINAL muscular atrophy, CEREBELLUM degeneration, GENETICS
Abstract

Pontocerebellar hypoplasia type 1 (PCH1) is characterized by cerebellar and anterior horn motor neuron degeneration and loss, signs of spinal muscular atrophy plus. Patients manifest severe perinatal weakness, hypotonia, and respiratory insufficiency, causing death frequently before the age of 1 year. Recently, causative mutations in EXOSC3 were reported in a majority of PCH1 patients, but the detailed clinical phenotype caused by EXOSC3 mutations, genotype-phenotype correlations, and prevalent mutations in specific ethnic groups is not yet known. Three unrelated Czech Roma patients with PCH1 were investigated clinically, electrophysiologically, neuroradiologically, and neuropathologically (patients 1 and 2). The entire coding region of the EXOSC3 gene, including the adjacent intron sequences, was sequenced in all three patients. The same mutation c.92G→C, p.G31A in EXOSC3 was found in all three affected patients in homozygous state and in heterozygous state in the parents from two of the families. Haplotype analysis with four flanking microsatellite markers showed identical haplotype in 9 out of 11 haplotypes carrying the c.92G→C, p.G31A mutation. Furthermore, four heterozygotes for this mutation were found in anonymous DNA samples from 90 unrelated Roma individuals. All four of these samples shared the same haplotype. No heterozygous sample was found among 120 anonymous DNA samples from Czech non-Roma individuals with no familial relation. It may therefore be concluded that EXOSC3 c.92G→C, p.G31A mutation is a founder mutation with high prevalence among the Czech Roma causing a similar and particularly severe phenotype of PCH1. These observations from the Czech Roma may have consequences also for other Roma from other countries. PCH1 caused by EXOSC3 founder mutation c.92G→C, p.G31A extends the list of autosomal recessive disorders rare among the general population but more frequent among Roma at least in the Czech Republic. [ABSTRACT FROM AUTHOR]

Published
2013
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26. SIMPLE mutation in demyelinating neuropathy and distribution in sciatic nerve.

Author

Bennett CL, Shirk AJ, Huynh HM, Street VA, Nelis E, Van Maldergem L, De Jonghe P, Jordanova A, Guergueltcheva V, Tournev I, Van Den Bergh P, Seeman P, Mazanec R, Prochazka T, Kremensky I, Haberlova J, Weiss MD, Timmerman V, Bird TD, and Chance PF

Subjects
Aged, Charcot-Marie-Tooth Disease pathology, Charcot-Marie-Tooth Disease physiopathology, Female, Humans, Male, Middle Aged, Nuclear Proteins analysis, Pedigree, Sciatic Nerve pathology, Sciatic Nerve physiology, Transcription Factors analysis, Charcot-Marie-Tooth Disease genetics, Mutation, Nuclear Proteins genetics, Sciatic Nerve chemistry, Transcription Factors genetics
Abstract

Charcot-Marie-Tooth neuropathy type 1C (CMT1C) is an autosomal dominant demyelinating peripheral neuropathy caused by missense mutations in the small integral membrane protein of lysosome/late endosome (SIMPLE) gene. To investigate the prevalence of SIMPLE mutations, we screened a cohort of 152 probands with various types of demyelinating or axonal and pure motor or sensory inherited neuropathies. SIMPLE mutations were found only in CMT1 patients, including one G112S and one W116G missense mutations. A novel I74I polymorphism was identified, yet no splicing defect of SIMPLE is likely. Haplotype analysis of STR markers and intragenic SNPs linked to the gene demonstrated that families with the same mutation are unlikely to be related. The clustering of the G112S, T115N, and W116G mutations within five amino acids suggests this domain may be critical to peripheral nerve myelination. Electrophysiological studies showed that CMT1C patients from six pedigrees (n = 38) had reduced nerve conduction velocities ranging from 7.5 to 27.0m/sec (peroneal). Two patients had temporal dispersion of nerve conduction and irregularity of conduction slowing, which is unusual for CMT1 patients. We report the expression of SIMPLE in various cell types of the sciatic nerve, including Schwann cells, the affected cell type in CMT1C.

Published
2004
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