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2. Sex Differences in Wild-Type Transthyretin Amyloidosis: An Analysis from the Transthyretin Amyloidosis Outcomes Survey (THAOS)

Author

Campbell, C. M., Lorusso, S., Dispenzieri, A., Kristen, A. V., Maurer, M. S., Rapezzi, C., Lairez, O., Drachman, B., Garcia-Pavia, P., Grogan, M., Chapman, D., Amass, L., Emdin, M., Hanna, M., Azevedo, O., Cirami, C. L., Jacoby, D., Costello, J. G., Slosky, D., Moelgaard, H., Hummel, S., Nativi-Nicolau, J., Murali, S., Fine, N., Jeon, E. -S., Shah, S., Witteles, R., Lenihan, D., Waddington-Cruz, M., Sekijima, Y., Tallaj, J., Mueller, C., Van Cleemput, J., Plante-Bordeneuve, V., Nienhuis, H., Quan, D., Steidley, D., Schmidt, H., Wixner, J., Polydefkis, M., Ralph, J., Ventura, H., Zivkovic, S., Gess, B., Torron, R. F., Gottlieb, S., Cotts, W., Tauras, J., Sarswat, N., Moreno, J. G., Parman, Y., and Luo, J.

Subjects
Registry, Sex, Transthyretin Amyloidosis Outcomes Survey, ATTRwt amyloidosis, Cardiology and Cardiovascular Medicine
Abstract

Wild-type transthyretin amyloidosis (ATTRwt amyloidosis) is a progressive disease resulting from the accumulation of wild-type transthyretin (TTR) amyloid fibrils, and is diagnosed primarily in males. This analysis examined sex differences in patients with ATTRwt amyloidosis from the Transthyretin Amyloidosis Outcomes Survey (THAOS).THAOS is an ongoing, global, longitudinal, observational survey of patients with transthyretin amyloidosis, including both inherited and wild-type disease, and asymptomatic carriers of TTR mutations. THAOS data were analyzed to identify potential differences in demographic and clinical characteristics between males and females with ATTRwt amyloidosis (data cutoff: August 1, 2021).Of 1386 patients with ATTRwt amyloidosis, 84 (6%) were female and 1302 (94%) were male. Females had a higher median age at enrollment (80 vs. 78 years; p = 0.002) and symptom onset (75 vs. 73 years; p = 0.045) than males. Mean left ventricular (LV) ejection fraction was higher (53% vs. 48%; p = 0.001) and mean LV diastolic diameter lower (42 vs. 46 mm; p 0.001) in females versus males, but sex was not identified as a predictor of LV mean wall thickness adjusted for height (beta coefficient - 0.22; p = 0.460) or a predominantly cardiac phenotype (odds ratio 1.60; p = 0.191). Modified polyneuropathy disability scores differed between groups (p 0.001), with a larger proportion of scores ≥ IIIa among females (23% vs. 7%).Females with ATTRwt amyloidosis in THAOS tended to present at a later age and showed signs of less severe cardiac impairment and more severe walking impairment.ClinicalTrials.gov: NCT00628745.

Published
2022

4. Sex-Related Risk of Cardiac Involvement in Hereditary Transthyretin Amyloidosis: Insights From THAOS

Author

Caponetti, A. G., Rapezzi, C., Gagliardi, C., Milandri, A., Dispenzieri, A., Kristen, A. V., Wixner, J., Maurer, M. S., Garcia-Pavia, P., Tournev, I., Plante-Bordeneuve, V., Chapman, D., Amass, L., van Cleemput, J., Waddington-Cruz, M., Schmidt, H., Dillmann, K. -U., Molgaard, H., Moreno, J. G., Costello, J. G., Beamud, F. M., Davila, L. G., Adams, D., Inamo, J., Lairez, O., Vita, G., Merlini, G., Cirami, C. L., Luigetti, M., Emdin, M., Sekijima, Y., Jeon, E. -S., Oh, J., Gonzalez Duarte Briseno, M. A., Nienhuis, H., Coelho, T., Conceicao, I., Azevedo, O., Badelita, S., Press, R., Parman, Y., Shah, S., Quan, D., Marburger, T., Polydefkis, M., Witteles, R., Gottlieb, S., Sarswat, N., Drachman, B., Steidley, D., Hummel, S., Slosky, D., Jacoby, D., Nativi-Nicolau, J., Tauras, J., Zivkovic, S., Tallaj, J., and Lenihan, D.

Subjects
myocardial involvement, ATTRv amyloidosis, myocardial involvement, registry, sex, sex, registry, NO, ATTRv amyloidosis
Published
2021

11. The distinct genetic pattern of ALS in Turkey: OS2207

Author

Özoğuz, A., Uyan, Ö., Birdal, G., Iskender, C., Ömür, Ö., Lahut, S., Agim, Z. S., Kartal, E., Parman, Y., Tan, E., Koç, F., Deymeer, F., Oflazer, P., Hanağasý, H., Gürvit, H., Bilgiç, B., Durmuş, H., Ertaş, M., Kotan, D., Akalýn, M. A., Güllüoğlu, H., Zarifoğlu, M., Aysal, F., Döşoğlu, N., Bilguvar, K., Günel, M., Keskin, Ö., Akgün, T., Özçelik, H., and Başak, A. N.

Published
2014

15. A database for screening and registering late onset Pompe disease in Turkey

Author

Gokyigit, M.C., Ekmekci, H., Durmus, H., Karlı, N., Koseoglu, E., Aysal, F., Kotan, D., Ali, A., Koytak, P.K., Karasoy, H., Yaman, A., Sengun, İ.S., Sayin, R., Tiftikcioglu, B.I., Soysal, A., Tutkavul, K., Bayrak, A.O., Kısabay, A., Elci, M.A., Yayla, V., Yılmaz, İ.A., Ozdamar, S.E., Erdoğan, Çağdaş, Tasdemir, N., Serdaroglu Oflazer, P., Deymeer, F., Parman, Y., Kendirci, M., Sayan, S., Celebi, L.G., Uluç, K., Tanrıdağ, T., Yuceyar, N., Ekmekci, O., Colakoglu, B.D., Ozturk, S., Tireli, H., Selcuki, D., Neyal, A.M., Kayran, Y., Aluclu, M.U., Koyuncuoglu, H.R., Tokucoglu, F., Secil, Y., Guney, F., Gozke, E., Balaban, H., Akalın, M.A., Koc, A.F., Mulayim, S., Turgut, N., Turkish Study Group for Late Onset Pompe Disease, Gokyigit, Munevver Celik Sisli Hamidiye Etfal Ed Res Hosp, Dept Neurol, Istanbul, Turkey, Ekmekci, Hakan Selcuk Univ Hosp, Dept Neurol, Konya, Turkey, Durmus, Hacer, Oflazer, Piraye Serdaroglu Istanbul Univ, Istanbul Fac Med, Dept Neurol Istanbul, Istanbul, Turkey, Karll, Necdet Uludag Univ Hosp, Dept Neurol, Bursa, Turkey, Koseoglu, Emel Erciyes Univ Hosp, Dept Neurol, Kayseri, Turkey, Aysal, Fikret Medipol Univ Hosp, Istanbul, Turkey, Kotan, Dilcan Sakarya Univ Hosp, Dept Neurol, Sakarya, Turkey, Ali, Asuman Sevket Yilnzaz Res Hosp, Dept Neurol, Bursa, Turkey, Koytak, Pinar Kahraman Marmara Univ Hosp, Dept Neurol, Istanbul, Turkey, Karasoy, Hatice Ege Univ Hosp, Dept Neurol, Izmir, Turkey, Yaman, Aylin Antalya Ed Res Hosp, Dept Neurol, Antalya, Turkey, Sengun, Ihsan Sukru Dokuz Eylul Univ Hosp, Dept Neurol, Izmir, Turkey, Sayin, Refah Yuzuncu Yil Univ Hosp, Dept Neurol, Van, Turkey, Tiftikcioglu, Bedile Irem Tepecik Ed Res Hosp, Izmir, Turkey, Soysal, Aysun Balarkoy Psychiat & Neurol Hosp, Dept Neurol, Istanbul, Turkey, Tutkavul, Kemal Haydarpa Ed Res Hosp, Dept Neurol, Istanbul, Turkey, Bayrak, Ayse Oytun Ondokuz Maps Univ Hosp, Dept Neurol, Samsun, Turkey, Kisabay, Aysin Celal Bayar Univ Hosp, Dept Neurol Manisa, Manisa, Turkey, Elci, Mehmet Ali Gaziantep Univ Hosp, Dept Neurol Gaziantep, Gaziantep, Turkey, Yayla, Vildan Balarkoy Sadi Konuk Ed Res Hosp, Dept Neurol, Istanbul, Turkey, Yilmaz, Ibrahim Arda Mersin Univ Hosp, Dept Neurol, Mersin, Turkey, Ozdamar, Sevim Erdem Hacettepe Univ Hosp, Dept Neurol, Ankara, Turkey, Erdogan, Cagdas Pamukkale Univ Hosp, Dept Neurol, Denizli, Turkey, Tasdemir, Nebahat Dicle Univ Hosp, Dept Neurol, Diyarbakir, Turkey, Gokyigit, Munevver Celik Beykent Univ, Istanbul, Turkey, Gokyigit, Munevver Celik -- 0000-0002-3395-3460, Uluc, Kayihan -- 0000-0001-6132-2300, Piraye -- 0000-0001-8202-5313, Ekmekci, Hakan -- 0000-0002-5605-2980, Dept. of Neurology, Sisli Hamidiye Etfal Ed. Res. Hosp., Istanbul, Turkey, Dept. of Neurology, Selçuk University Hosp., Konya, Turkey, Dept. of Neurology Istanbul, İstanbul Medical Faculty, University of Istanbul, Istanbul, Turkey, Dept. of Neurology, Uludağ University Hosp., Bursa, Turkey, Dept. of Neurology, Erciyes University Hosp., Kayseri, Turkey, Medipol University Hosp., Istanbul, Turkey, Dept. of Neurology, Sakarya University Hosp., Sakarya, Turkey, Dept. of Neurology, Sevket Yılmaz Ed. Res. Hosp., Bursa, Turkey, Dept. of Neurology, Marmara University Hospital, Istanbul, Turkey, Dept. of Neurology, Ege University Hosp., İzmir, Turkey, Dept. of Neurology, Antalya Ed. Res. Hosp., Antalya, Turkey, Dept. of Neurology, Dokuz Eylül University Hosp., İzmir, Turkey, Dept. of Neurology, Yüzüncü Yil University Hospital, Van, Turkey, Tepecik Ed. Res. Hosp., Izmir, Turkey, Dept. of Neurology, Bakırkoy Psychiatric and Neurological Hosp., Istanbul, Turkey, Dept. of Neurology, Haydarpaşa Ed. Res. Hosp., İstanbul, Turkey, Dept. of Neurology, Ondokuz Mayıs University Hosp., Samsun, Turkey, Dept. of Neurology Manisa, Celal Bayar University Hosp., Manisa, Turkey, Dept. of Neurology Gaziantep, Gaziantep University Hosp., Gaziantep, Turkey, Dept. of Neurology, Bakırkoy Sadi Konuk Ed. Res. Hosp., Istanbul, Turkey, Dept. of Neurology, Mersin University Hosp., Mersin, Turkey, Dept. of Neurology, Hacettepe University Hosp., Ankara, Turkey, Dept. of Neurology, Pamukkale University Hosp., Denizli, Turkey, Dept. of Neurology, Dicle University Hosp., Diyarbakır, Turkey, Istanbul Medical Faculty, Dept. of Neurology, University of Istanbul, Istanbul, Turkey, Dept. of Neurology, Ege University Hosp., Izmir, Turkey, Dept. of Neurology, Dokuz Eylul University Hosp., Izmir, Turkey, Dept. of Neurology, Selcuk University Hospital, Konya, Turkey, Dept. of Neurology, Haydarpasa Ed. Res. Hosp., Istanbul, Turkey, Dept. of Neurology, Celal Bayar University Hosp., Manisa, Turkey, Dept. of Neurology, Gaziantep University Hosp., Gaziantep, Turkey, Dept. of Neurology, Bakirkoy, Sadi Konuk Ed. Res. Hosp., Istanbul, Turkey, Dept. of Neurology, Dicle University Hosp., Diyarbakir, Turkey, Dept. of Neurology, Suleyman Demirel University Hosp., Isparta, Turkey, Dept. of Neurology, Tepecik Ed. Res. Hosp., Izmir, Turkey, Dept of Neurology, Atatürk Ed. Res. Hosp., Izmir, Turkey, Meram Medical Faculty, Dept. of Neurology, Necmettin Erbakan University, Konya, Turkey, Dept. of Neurology, Fatih Sultan Mehmet Ed. Res. Hosp., Istanbul, Turkey, Dept. of Neurology, Cumhuriyet University Hosp., Sivas, Turkey, Cerrahpasa Medical Faculty, Dept. of Neurology, Istanbul University, Istanbul, Turkey, Dept. of Neurology, Cukurova University Hosp., Adana, Turkey, Dept. of Neurology, Kocaeli University Hosp., Izmit, Turkey, Dept. of Neurology, Namık Kemal University Hosp., Tekirdag, Turkey, Beykent University, Turkey, Çukurova Üniversitesi, Ondokuz Mayıs Üniversitesi, Gokyigit, M.C., Dept. of Neurology, Sisli Hamidiye Etfal Ed. Res. Hosp., Istanbul, Turkey, Beykent University, Turkey -- Ekmekci, H., Dept. of Neurology, Selçuk University Hosp., Konya, Turkey -- Durmus, H., Dept. of Neurology Istanbul, İstanbul Medical Faculty, University of Istanbul, Istanbul, Turkey -- Karlı, N., Dept. of Neurology, Uludağ University Hosp., Bursa, Turkey -- Koseoglu, E., Dept. of Neurology, Erciyes University Hosp., Kayseri, Turkey -- Aysal, F., Medipol University Hosp., Istanbul, Turkey -- Kotan, D., Dept. of Neurology, Sakarya University Hosp., Sakarya, Turkey -- Ali, A., Dept. of Neurology, Sevket Yılmaz Ed. Res. Hosp., Bursa, Turkey -- Koytak, P.K., Dept. of Neurology, Marmara University Hospital, Istanbul, Turkey -- Karasoy, H., Dept. of Neurology, Ege University Hosp., İzmir, Turkey -- Yaman, A., Dept. of Neurology, Antalya Ed. Res. Hosp., Antalya, Turkey -- Sengun, İ.S., Dept. of Neurology, Dokuz Eylül University Hosp., İzmir, Turkey -- Sayin, R., Dept. of Neurology, Yüzüncü Yil University Hospital, Van, Turkey -- Tiftikcioglu, B.I., Tepecik Ed. Res. Hosp., Izmir, Turkey -- Soysal, A., Dept. of Neurology, Bakırkoy Psychiatric and Neurological Hosp., Istanbul, Turkey -- Tutkavul, K., Dept. of Neurology, Haydarpaşa Ed. Res. Hosp., İstanbul, Turkey -- Bayrak, A.O., Dept. of Neurology, Ondokuz Mayıs University Hosp., Samsun, Turkey -- Kısabay, A., Dept. of Neurology Manisa, Celal Bayar University Hosp., Manisa, Turkey -- Elci, M.A., Dept. of Neurology Gaziantep, Gaziantep University Hosp., Gaziantep, Turkey -- Yayla, V., Dept. of Neurology, Bakırkoy Sadi Konuk Ed. Res. Hosp., Istanbul, Turkey -- Yılmaz, İ.A., Dept. of Neurology, Mersin University Hosp., Mersin, Turkey -- Ozdamar, S.E., Dept. of Neurology, Hacettepe University Hosp., Ankara, Turkey -- Erdogan, C., Dept. of Neurology, Pamukkale University Hosp., Denizli, Turkey -- Tasdemir, N., Dept. of Neurology, Dicle University Hosp., Diyarbakır, Turkey -- Serdaroglu Oflazer, P., Dept. of Neurology Istanbul, İstanbul Medical Faculty, University of Istanbul, Istanbul, Turkey -- Deymeer, F., Istanbul Medical Faculty, Dept. of Neurology, University of Istanbul, Istanbul, Turkey -- Parman, Y., Istanbul Medical Faculty, Dept. of Neurology, University of Istanbul, Istanbul, Turkey -- Kendirci, M., Dept. of Neurology, Erciyes University Hosp., Kayseri, Turkey -- Sayan, S., Dept. of Neurology, Sakarya University Hosp., Sakarya, Turkey -- Celebi, L.G., Dept. of Neurology, Sisli Hamidiye Etfal Ed. Res. Hosp., Istanbul, Turkey -- Uluç, K., Dept. of Neurology, Marmara University Hospital, Istanbul, Turkey -- Tanrıdağ, T., Dept. of Neurology, Marmara University Hospital, Istanbul, Turkey -- Yuceyar, N., Dept. of Neurology, Ege University Hosp., Izmir, Turkey -- Ekmekci, O., Dept. of Neurology, Ege University Hosp., Izmir, Turkey -- Colakoglu, B.D., Dept. of Neurology, Dokuz Eylul University Hosp., Izmir, Turkey -- Ozturk, S., Dept. of Neurology, Selcuk University Hospital, Konya, Turkey -- Tireli, H., Dept. of Neurology, Haydarpasa Ed. Res. Hosp., Istanbul, Turkey -- Selcuki, D., Dept. of Neurology, Celal Bayar University Hosp., Manisa, Turkey -- Neyal, A.M., Dept. of Neurology, Gaziantep University Hosp., Gaziantep, Turkey -- Kayran, Y., Dept. of Neurology, Bakirkoy, Sadi Konuk Ed. Res. Hosp., Istanbul, Turkey -- Aluclu, M.U., Dept. of Neurology, Dicle University Hosp., Diyarbakir, Turkey -- Koyuncuoglu, H.R., Dept. of Neurology, Suleyman Demirel University Hosp., Isparta, Turkey -- Tokucoglu, F., Dept. of Neurology, Tepecik Ed. Res. Hosp., Izmir, Turkey -- Secil, Y., Dept of Neurology, Atatürk Ed. Res. Hosp., Izmir, Turkey -- Guney, F., Meram Medical Faculty, Dept. of Neurology, Necmettin Erbakan University, Konya, Turkey -- Gozke, E., Dept. of Neurology, Fatih Sultan Mehmet Ed. Res. Hosp., Istanbul, Turkey -- Balaban, H., Dept. of Neurology, Cumhuriyet University Hosp., Sivas, Turkey -- Akalın, M.A., Cerrahpasa Medical Faculty, Dept. of Neurology, Istanbul University, Istanbul, Turkey -- Koc, A.F., Dept. of Neurology, Cukurova University Hosp., Adana, Turkey -- Mulayim, S., Dept. of Neurology, Kocaeli University Hosp., Izmit, Turkey -- Turgut, N., Dept. of Neurology, Namık Kemal University Hosp., Tekirdag, Turkey -- Turkish Study Group for Late Onset Pompe Disease, Gokyigit, MC, Ekmekci, H, Durmus, H, Karll, N, Koseoglu, E, Aysal, F, Kotan, D, Ali, A, Koytak, PK, Karasoy, H, Yaman, A, Sengun, IS, Sayin, R, Tiftikcioglu, BI, Soysal, A, Tutkavul, K, Bayrak, AO, Kisabay, A, Elci, MA, Yayla, V, Yilmaz, IA, Ozdamar, SE, Erdogan, C, Tasdemir, N, Oflazer, PS, Sakarya Üniversitesi/Tıp Fakültesi/Dahili Tıp Bilimleri Bölümü, and Kotan Dündar, Dilcan

Subjects
0301 basic medicine, glycogen storage disease type 2, Pediatrics, enzyme assay, Databases, Factual, Turkey, Turkey (republic), 0302 clinical medicine, data base, Glycogen storage disease type II, Prevalence, Mass Screening, creatine kinase blood level, Registries, Age of Onset, Genetics (clinical), medicine.diagnostic_test, Glycogen Storage Disease Type II, adult, genetic screening, Creatine Kinase/blood, Glycogen Storage Disease Type II/blood/diagnosis/*epidemiology, Humans, Turkey/epidemiology, Dried blood spot, aged, female, Neurology, priority journal, LOPD, Acid alpha-glucosidase, histopathology, disease registry, medicine.symptom, myopathy, mutational analysis, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Registry, electrodiagnosis, Late onset, Article, enzyme blood level, 03 medical and health sciences, male, respiratory distress, medicine, controlled study, human, Myopathy, Acid alpha glucosidase, Mass screening, Genetic testing, muscle weakness, business.industry, creatine kinase, screening, glucan 1,4 alpha glucosidase, medicine.disease, major clinical study, human tissue, late onset disorder, Limb girdle muscle weakness, 030104 developmental biology, multicenter study, Pediatrics, Perinatology and Child Health, Neurosciences & Neurology, Neurology (clinical), Age of onset, business, 030217 neurology & neurosurgery
Abstract

WOS: 000430763800010 PubMed ID: 29395671 The aim of this study was to search for the frequency of late onset Pompe disease (LOPD) among patients who had a myopathy with unknown diagnosis registered in the pre-diagnostic part of a novel registry for LOPD within a collaborative study of neurologists working throughout Turkey. Included in the study were 350 patients older than 18 years who have a myopathic syndrome without a proven diagnosis by serum creatine kinase (CK) levels, electrodiagnostic studies, and/or muscle pathology, and/or genetic tests for myopathies other than LOPD. Acid alpha glucosidase (GAA) in dried blood spot was measured in each patient at two different university laboratories. LOPD was confirmed by mutation analysis in patients with decreased GAA levels from either both or one of the laboratories. Pre-diagnostic data, recorded by 45 investigators from 32 centers on 350 patients revealed low GAA levels in a total of 21 patients; from both laboratories in 6 and from either one of the laboratories in 15. Among them, genetic testing proved LOPD in 3 of 6 patients and 1 of 15 patients with decreased GAA levels from both or one of the laboratories respectively. Registry was transferred to Turkish Neurological Association after completion of the study for possible future use and development. Our collaborative study enabled collection of a considerable amount of data on the registry in a short time. GAA levels by dried blood spot even from two different laboratories in the same patient may not prove LOPD. LOPD seemed to be rarer in Turkey than in Europe. (C) 2017 Elsevier B.V. All rights reserved.

Published
2018

19. A multicenter retrospective study of charcot-marie-tooth disease type 4B (CMT4B) associated with mutations in myotubularin-related proteins (MTMRs)

Author

Pareyson, D., Stojkovic, T., Reilly, M. M., Leonard-Louis, S., Laura, M., Blake, J., Parman, Y., Battaloglu, E., Tazir, M., Bellatache, M., Bonello-Palot, N., Levy, N., Sacconi, S., Guimaraes-Costa, R., Attarian, S., Latour, P., Sole, G., Megarbane, A., Horvath, R., Ricci, G., Choi, B. -O., Schenone, A., Gemelli, C., Geroldi, A., Sabatelli, M., Luigetti, M., Santoro, L., Manganelli, F., Quattrone, A., Valentino, P., Murakami, T., Scherer, S. S., Dankwa, L., Shy, M. E., Bacon, C. J., Herrmann, D. N., Zambon, A., Tramacere, I., Pisciotta, C., Magri, S., Previtali, S. C., Bolino, A., Sabatelli M. (ORCID:0000-0001-6635-4985), Luigetti M. (ORCID:0000-0001-7539-505X), Santoro L., Pareyson, D., Stojkovic, T., Reilly, M. M., Leonard-Louis, S., Laura, M., Blake, J., Parman, Y., Battaloglu, E., Tazir, M., Bellatache, M., Bonello-Palot, N., Levy, N., Sacconi, S., Guimaraes-Costa, R., Attarian, S., Latour, P., Sole, G., Megarbane, A., Horvath, R., Ricci, G., Choi, B. -O., Schenone, A., Gemelli, C., Geroldi, A., Sabatelli, M., Luigetti, M., Santoro, L., Manganelli, F., Quattrone, A., Valentino, P., Murakami, T., Scherer, S. S., Dankwa, L., Shy, M. E., Bacon, C. J., Herrmann, D. N., Zambon, A., Tramacere, I., Pisciotta, C., Magri, S., Previtali, S. C., Bolino, A., Sabatelli M. (ORCID:0000-0001-6635-4985), Luigetti M. (ORCID:0000-0001-7539-505X), and Santoro L.

Abstract

Objective: Charcot-Marie-Tooth (CMT) disease 4B1 and 4B2 (CMT4B1/B2) are characterized by recessive inheritance, early onset, severe course, slowed nerve conduction, and myelin outfoldings. CMT4B3 shows a more heterogeneous phenotype. All are associated with myotubularin-related protein (MTMR) mutations. We conducted a multicenter, retrospective study to better characterize CMT4B. Methods: We collected clinical and genetic data from CMT4B subjects in 18 centers using a predefined minimal data set including Medical Research Council (MRC) scores of nine muscle pairs and CMT Neuropathy Score. Results: There were 50 patients, 21 of whom never reported before, carrying 44 mutations, of which 21 were novel and six representing novel disease associations of known rare variants. CMT4B1 patients had significantly more-severe disease than CMT4B2, with earlier onset, more-frequent motor milestones delay, wheelchair use, and respiratory involvement as well as worse MRC scores and motor CMT Examination Score components despite younger age at examination. Vocal cord involvement was common in both subtypes, whereas glaucoma occurred in CMT4B2 only. Nerve conduction velocities were similarly slowed in both subtypes. Regression analyses showed that disease severity is significantly associated with age in CMT4B1. Slopes are steeper for CMT4B1, indicating faster disease progression. Almost none of the mutations in the MTMR2 and MTMR13 genes, responsible for CMT4B1 and B2, respectively, influence the correlation between disease severity and age, in agreement with the hypothesis of a complete loss of function of MTMR2/13 proteins for such mutations. Interpretation: This is the largest CMT4B series ever reported, demonstrating that CMT4B1 is significantly more severe than CMT4B2, and allowing an estimate of prognosis. ANN NEUROL 2019.

Published
2019

23. Mutation spectrum of 260 dystrophinopathy patients from Turkey and important highlights for genetic counseling

Author

Toksoy, G, primary, Durmus, H, additional, Aghayev, A, additional, Bagirova, G, additional, Sevinc Rustemoglu, B, additional, Basaran, S, additional, Avci, S, additional, Karaman, B, additional, Parman, Y, additional, Altunoglu, U, additional, Yapici, Z, additional, Tekturk, P, additional, Deymeer, F, additional, Topaloglu, H, additional, Kayserili, H, additional, Oflazer-Serdaroglu, P, additional, and Uyguner, ZO, additional

Published
2019
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25. Patisiran, an RNAi Therapeutic, for Hereditary Transthyretin Amyloidosis

Author

Adams, D., Gonzalez-Duarte, A., O'Riordan, W. D., Yang, C. -C, Ueda, M., Kristen, A. V., Tournev, I., Schmidt, H. H., Coelho, T., Berk, J. L., Lin, K. -P, Vita, G., Attarian, S., Plante-Bordeneuve, V., Mezei, M. M., Campistol, J. M., Buades, J., Brannagan, T. H. , I I I, Kim, B. J., Oh, J., Parman, Y., Sekijima, Y., Hawkins, P. N., Solomon, S. D., Polydefkis, M., Dyck, P. J., Gandhi, P. J., Goyal, S., Chen, J., Strahs, A. L., Nochur, S. V., Sweetser, M. T., Garg, P. P., Vaishnaw, A. K., Gollob, J. A., Suhr, Ole B., Adams, D., Gonzalez-Duarte, A., O'Riordan, W. D., Yang, C. -C, Ueda, M., Kristen, A. V., Tournev, I., Schmidt, H. H., Coelho, T., Berk, J. L., Lin, K. -P, Vita, G., Attarian, S., Plante-Bordeneuve, V., Mezei, M. M., Campistol, J. M., Buades, J., Brannagan, T. H. , I I I, Kim, B. J., Oh, J., Parman, Y., Sekijima, Y., Hawkins, P. N., Solomon, S. D., Polydefkis, M., Dyck, P. J., Gandhi, P. J., Goyal, S., Chen, J., Strahs, A. L., Nochur, S. V., Sweetser, M. T., Garg, P. P., Vaishnaw, A. K., Gollob, J. A., and Suhr, Ole B.

Abstract

BACKGROUND: Patisiran, an investigational RNA interference therapeutic agent, specifically inhibits hepatic synthesis of transthyretin. METHODS: In this phase 3 trial, we randomly assigned patients with hereditary transthyretin amyloidosis with polyneuropathy, in a 2:1 ratio, to receive intravenous patisiran (0.3 mg per kilogram of body weight) or placebo once every 3 weeks. The primary end point was the change from baseline in the modified Neuropathy Impairment Score+7 (mNIS+7; range, 0 to 304, with higher scores indicating more impairment) at 18 months. Other assessments included the Norfolk Quality of Life-Diabetic Neuropathy (Norfolk QOL-DN) questionnaire (range, -4 to 136, with higher scores indicating worse quality of life), 10-m walk test (with gait speed measured in meters per second), and modified body-mass index (modified BMI, defined as [weight in kilograms divided by square of height in meters] x albumin level in grams per liter; lower values indicated worse nutritional status). RESULTS: A total of 225 patients underwent randomization (148 to the patisiran group and 77 to the placebo group). The mean (+/- SD) mNIS+7 at baseline was 80.9 +/- 41.5 in the patisiran group and 74.6 +/- 37.0 in the placebo group; the least-squares mean (+/- SE) change from baseline was -6.0 +/- 1.7 versus 28.0 +/- 2.6 (difference, -34.0 points; P<0.001) at 18 months. The mean (+/- SD) baseline Norfolk QOL-DN score was 59.6 +/- 28.2 in the patisiran group and 55.5 +/- 24.3 in the placebo group; the least-squares mean (+/- SE) change from baseline was -6.7 +/- 1.8 versus 14.4 +/- 2.7 (difference, -21.1 points; P<0.001) at 18 months. Patisiran also showed an effect on gait speed and modified BMI. At 18 months, the least-squares mean change from baseline in gait speed was 0.08 +/- 0.02 m per second with patisiran versus -0.24 +/- 0.04 m per second with placebo (difference, 0.31 m per second; P<0.001), and the least-squares mean change from baseline in the modified BMI was

Published
2018
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26. The Effect Of Interleukin (Il)-21 And Cd4(+)Cd25(++) T Cells On Cytokine Production Of Cd4(+) Responder T Cells In Patients With Myasthenia Gravis

Author

Alahgholi-Hajibehzad, M., Durmus, H., Aysal, F., Guelsen-Parman, Y., Oflazer, P., Deymeer, F., and Saruhan-Direskeneli, G.

Abstract

Impairment of the suppressive function of regulatory T (T-reg) cells has been reported in myasthenia gravis (MG). In this study, cytokine-related mechanisms that may lead to the defect of T-reg were investigated in patients with anti-acetylcholine receptor antibody-positive MG (AChR+MG). Proliferation and cytokine production of responder T (T-resp) cells in response to polyclonal activation were measured in a suppression assay. The effect of interleukin (IL)-21 on suppression was evaluated in vitro in co-culture. IL-21 increased the proliferation of T-resp cells in T-resp/T-reg co-cultures. T-resp cells from patients with MG secreted significantly lower levels of IL-2. In patients with MG, IL-2 levels did not change with the addition of T-reg to cultures, whereas it decreased significantly in controls. In T-resp/T-reg co-cultures, IL-4, IL-6 and IL-10 production increased in the presence of T-reg in patients. Interferon (IFN)-gamma was decreased, whereas IL-17A was increased in both patient and control groups. IL-21 inhibited the secretion of IL-4 in MG and healthy controls (HC), and IL-17A in HC only. The results demonstrated that IL-21 enhances the proliferation of T-resp cells in the presence of T-reg. An effect of IL-21 mainly on T-resp cells through IL-2 is implicated.

Published
2017

28. Anoctamin 5 muscular dystrophy mimicking metabolic myopathy

Author

Durmus, H., primary, Scalco, R., additional, Gardiner, A., additional, Manole, A., additional, Schapira, A., additional, Morrow, J., additional, Houlden, H., additional, Holton, J., additional, Johnson, K., additional, Töpf, A., additional, Phillips, L., additional, Deymeer, F., additional, Parman, Y., additional, Straub, V., additional, Quinlivan, R., additional, and Oflazer-Serdaoglu, P., additional

Published
2017
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29. Effects of insulin-like growth factor-I and platelet-rich plasma on sciatic nerve crush injury in a rat model

Author

EMEL, E, ERGUN, SELMA, KOTAN, D, Gürsoy, EB, PARMAN, Y, ZENGIN, A, NURTEN, A, Emel, E, Ergun, SS, Kotan, D, Gursoy, EB, Parman, Y, Zengin, A, Nurten, A, Sakarya Üniversitesi/Tıp Fakültesi/Dahili Tıp Bilimleri Bölümü, Kotan Dündar, Dilcan, ERGÜN, SELMA, and GÜRSOY, AZIZE ESRA

Subjects
Nerve Crush, Platelet-Rich Plasma, Recovery of Function, Motor Activity, Sciatic Nerve, Axons, Statistics, Nonparametric, Nerve Regeneration, Rats, Random Allocation, Treatment Outcome, nervous system, Animals, Surgery, Insulin-Like Growth Factor I, Rats, Wistar, Sciatic Neuropathy
Abstract

Local administration of insulin-like growth factor-I (IGF-I) has been shown to increase the rate of axon regeneration in crush-injured and freeze-injured rat sciatic nerves. Local administration of platelet-rich plasma (PRP) has been also shown to have a measurable effect on facial nerve regeneration after transection in a rat model. The objective of the study was to compare the effects of locally administered IGF-I and PRP on the parameters of the Sciatic Function Index (SFI), sensory function (SF), axon count, and myelin thickness/axon diameter ratio (G-ratio) in a rat model of crush-injured sciatic nerves.The right sciatic nerve of Wistar albino rats (24 animals) was crushed using a Yasargil-Phynox aneurysm clip for 45 minutes. All animals were randomly divided into 3 groups: Group 1 (control group) was treated with saline, Group 2 was treated with IGF-I, and Group 3 was treated with PRP. Injections were performed using the tissue expander's injection port with a connecting tube directed at the crush-injured site. Functional recovery was assessed with improvement in the SFI. Recovery of sensory function was using the pinch test. Histopathological examination was performed 3 months after the injury.The SFI showed an improved functional recovery in the IGF-I-treated animals (Group 2) compared with the saline-treated animals (Group 1) 30 days after the injury. In IGF-I-treated rats, sensory function returned to the baseline level significantly faster than in saline-treated and PRP-treated rats as shown in values between SF-2 and SF-7. The G-ratios were found to be significantly higher in both experimental groups than in the control group.This study suggests that the application of IGF-I to the crush-injured site may expedite the functional recovery of paralyzed muscle by increasing the rate of axon regeneration.

Published
2010

30. Tafamidis treatment in a patient with transthyretin amyloidosis due to domino liver transplantation

Author

Matur, ZELİHA, Parman, Y., DURMUŞ TEKÇE, Hacer, Atmaca, M. M., and MATUR, ZELİHA

Subjects
Matur Z., Atmaca M. M. , DURMUŞ TEKÇE H., Parman Y., -Tafamidis treatment in a patient with transthyretin amyloidosis due to domino liver transplantation-, Joint Congress of European Neurology, İstanbul, Türkiye, 31 Mayıs - 03 Haziran 2014, cilt.261, Matur Z., Atmaca M. M. , DURMUŞ TEKÇE H., Parman Y., -Tafamidis treatment in a patient with transthyretin amyloidosis due to domino liver transplantation-, Joint Congress of European Neurology, İstanbul, Türkiye, 31 Mayıs - 03 Haziran 2014, cilt.21, ss.543
Published
2014

31. Genotypic and phenotypic presentation of TTR-FAP in Turkey

Author

Durmus, H., Matur, Z., Atmaca, M. M., Mehveş Poda, Oflazer-Serdaroglu, P., Deymeer, F., Parman, Y., and MATUR, ZELİHA

Subjects
DURMUŞ TEKÇE H., Matur Z., Atmaca M. M. , PODA M., Oflazer-Serdaroglu P., Deymeer F., Parman Y., -Genotypic and phenotypic presentation of TTR-FAP in Turkey-, Joint Congress of European Neurology, İstanbul, Türkiye, 31 Mayıs - 03 Haziran 2014, cilt.261, DURMUŞ TEKÇE H., Matur Z., Atmaca M. M. , PODA M., Oflazer-Serdaroglu P., Deymeer F., Parman Y., -Genotypic and phenotypic presentation of TTR-FAP in Turkey-, Joint Congress of European Neurology, İstanbul, Türkiye, 31 Mayıs - 03 Haziran 2014, cilt.21, ss.137
Published
2014

33. ELECTROPHYSIOLOGICAL DECREMENT AND TRANSIENT WEAKNESS IN MYOTONIC SYNDROMES

Author

Ciftci, F. D., Deymeer, F., Lehmann-Horn, F., Kara, B., Matur, ZELİHA, Jurkat-Rott, K., Basak, N., Parman, Y., Serdaroglu-Oflazer, P., and MATUR, ZELİHA

Subjects
Matur Z., Ciftci F. D. , Kara B., Serdaroglu-Oflazer P., Parman Y., Basak N., Jurkat-Rott K., Lehmann-Horn F., Deymeer F., -ELECTROPHYSIOLOGICAL DECREMENT AND TRANSIENT WEAKNESS IN MYOTONIC SYNDROMES-, 52nd Annual Meeting of the American-Association-of-Neuromuscular-and-Electrodiagnostic-Medicine, San-Francisco, Kostarika, 14 - 17 Eylül 2011, cilt.44, ss.671
Published
2011

34. Conduction blocks in Charcot-Marie-Tooth 1A

Author

Kocasoy-Orhan, E., Battaloglu, E., Oflazer-Serdaroglu, P., Matur, ZELİHA, Parman, Y., Deymeer, F., Poyraz, M., and MATUR, ZELİHA

Subjects
Parman Y., Kocasoy-Orhan E., Matur Z., Oflazer-Serdaroglu P., Battaloglu E., Poyraz M., Deymeer F., -Conduction blocks in Charcot-Marie-Tooth 1A-, 21st Meeting of the European-Neurological-Society, Lisbon, Portekiz, 28 - 31 Mayıs 2011, cilt.258, ss.110
Published
2011

35. Genetic spectrum of hereditary neuropathies with onset in the first year of life

Author

Baets, J. Deconinck, T. De Vriendt, E. Zimoń, M. Yperzeele, L. Van Hoorenbeeck, K. Peeters, K. Spiegel, R. Parman, Y. Ceulemans, B. Van Bogaert, P. Pou-Serradell, A. Bernert, G. Dinopoulos, A. Auer-Grumbach, M. Sallinen, S.-L. Fabrizi, G.M. Pauly, F. Van Den Bergh, P. Bilir, B. Battaloglu, E. Madrid, R.E. Kabzińska, D. Kochanski, A. Topaloglu, H. Miller, G. Jordanova, A. Timmerman, V. De Jonghe, P.

Abstract

Early onset hereditary motor and sensory neuropathies are rare disorders encompassing congenital hypomyelinating neuropathy with disease onset in the direct post-natal period and Dejerine-Sottas neuropathy starting in infancy. The clinical spectrum, however, reaches beyond the boundaries of these two historically defined disease entities. De novo dominant mutations in PMP22, MPZ and EGR2 are known to be a typical cause of very early onset hereditary neuropathies. In addition, mutations in several other dominant and recessive genes for Charcot-Marie-Tooth disease may lead to similar phenotypes. To estimate mutation frequencies and to gain detailed insights into the genetic and phenotypic heterogeneity of early onset hereditary neuropathies, we selected a heterogeneous cohort of 77 unrelated patients who presented with symptoms of peripheral neuropathy within the first year of life. The majority of these patients were isolated in their family. We performed systematic mutation screening by means of direct sequencing of the coding regions of 11 genes: MFN2, PMP22, MPZ, EGR2, GDAP1, NEFL, FGD4, MTMR2, PRX, SBF2 and SH3TC2. In addition, screening for the Charcot-Marie-Tooth type 1A duplication on chromosome 17p11.2-12 was performed. In 35 patients (45), mutations were identified. Mutations in MPZ, PMP22 and EGR2 were found most frequently in patients presenting with early hypotonia and breathing difficulties. The recessive genes FGD4, PRX, MTMR2, SBF2, SH3TC2 and GDAP1 were mutated in patients presenting with early foot deformities and variable delay in motor milestones after an uneventful neonatal period. Several patients displaying congenital foot deformities but an otherwise normal early development carried the Charcot-Marie-Tooth type 1A duplication. This study clearly illustrates the genetic heterogeneity underlying hereditary neuropathies with infantile onset. © 2011 The Author.

Published
2011

36. Myophosphorylase (PYGM) mutations in Turkish patients with McArdle disease: A next generation sequencing study

Author

Inal Gültekin, G., primary, Toptaş Hekimoğlu, B., additional, Görmez, Z., additional, Durmuş, H., additional, Demirci, H., additional, Sağıroğlu, M., additional, Parman, Y., additional, Deymeer, F., additional, Yılmaz, H., additional, Pençe, S., additional, Kurt, C., additional, Tan, E., additional, Özdamar, S., additional, Giger, U., additional, Öztürk, O., additional, and Serdaroğlu-Oflazer, P., additional

Published
2015
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38. Botulinum toxin injections for the facial region

Author

Coban, A., Hanagasi, H., Shugaiv, E., Babacan, G., Matur, ZELİHA, Parman, Y., and MATUR, ZELİHA

Subjects
Matur Z., Coban A., Babacan G., Shugaiv E., Hanagasi H., Parman Y., -Botulinum toxin injections for the facial region-, 20th Meeting of the European-Neurological-Society, Berlin, Almanya, 19 - 23 Haziran 2010, cilt.257
Published
2010

39. A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases.

Author

Yamamoto, S., Jaiswal, M., Charng, W.L., Gambin, T., Karaca, E., Mirzaa, G., Wiszniewski, W., Sandoval, H., Haelterman, N.A., Xiong, B., Zhang, K., Bayat, V., David, G., Li, T., Chen, K., Gala, U., Harel, T., Pehlivan, D., Penney, S., Vissers, L.E.L.M., Ligt, J. de, Jhangiani, S.N., Xie, Y., Tsang, S.H., Parman, Y., Sivaci, M., Battaloglu, E., Muzny, D., Wan, Y.W., Liu, Z., Lin-Moore, A.T., Clark, R.D., Curry, C.J., Link, N., Schulze, K.L., Boerwinkle, E., Dobyns, W.B., Allikmets, R., Gibbs, R.A., Chen, R., Lupski, J.R., Wangler, M.F., Bellen, H.J., Yamamoto, S., Jaiswal, M., Charng, W.L., Gambin, T., Karaca, E., Mirzaa, G., Wiszniewski, W., Sandoval, H., Haelterman, N.A., Xiong, B., Zhang, K., Bayat, V., David, G., Li, T., Chen, K., Gala, U., Harel, T., Pehlivan, D., Penney, S., Vissers, L.E.L.M., Ligt, J. de, Jhangiani, S.N., Xie, Y., Tsang, S.H., Parman, Y., Sivaci, M., Battaloglu, E., Muzny, D., Wan, Y.W., Liu, Z., Lin-Moore, A.T., Clark, R.D., Curry, C.J., Link, N., Schulze, K.L., Boerwinkle, E., Dobyns, W.B., Allikmets, R., Gibbs, R.A., Chen, R., Lupski, J.R., Wangler, M.F., and Bellen, H.J.

Abstract

Item does not contain fulltext

Published
2014

41. The effect of interleukin (IL)-21 and CD4+CD25++ T cells on cytokine production of CD4+ responder T cells in patients with myasthenia gravis.

Author

Alahgholi‐Hajibehzad, M., Durmuş, H., Aysal, F., Gülşen‐Parman, Y., Oflazer, P., Deymeer, F., and Saruhan‐Direskeneli, G.

Subjects
CYTOKINES, MYASTHENIA gravis, MYASTHENIA gravis treatment, T cells, INTERLEUKINS, INTERFERONS, CONTROL groups, PATIENTS, THERAPEUTICS
Abstract

Impairment of the suppressive function of regulatory T (Treg) cells has been reported in myasthenia gravis (MG). In this study, cytokine-related mechanisms that may lead to the defect of Treg were investigated in patients with anti-acetylcholine receptor antibody-positive MG (AChR + MG). Proliferation and cytokine production of responder T (Tresp) cells in response to polyclonal activation were measured in a suppression assay. The effect of interleukin (IL)-21 on suppression was evaluated in vitro in co-culture. IL-21 increased the proliferation of Tresp cells in Tresp/Treg co-cultures. Tresp cells from patients with MG secreted significantly lower levels of IL-2. In patients with MG, IL-2 levels did not change with the addition of Treg to cultures, whereas it decreased significantly in controls. In Tresp/Treg co-cultures, IL-4, IL-6 and IL-10 production increased in the presence of Treg in patients. Interferon (IFN)-γ was decreased, whereas IL-17A was increased in both patient and control groups. IL-21 inhibited the secretion of IL-4 in MG and healthy controls (HC), and IL-17A in HC only. The results demonstrated that IL-21 enhances the proliferation of Tresp cells in the presence of Treg. An effect of IL-21 mainly on Tresp cells through IL-2 is implicated. [ABSTRACT FROM AUTHOR]

Published
2017
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44. G.P.138

Author

Yildiz-Celik, S., primary, Durmus, H., additional, Hajibehzad, M., additional, Yilmaz, V., additional, Oflazer-Serdaroglu, P., additional, Parman, Y., additional, Saruhan-Direskeneli, G., additional, and Deyemeer, F., additional

Published
2014
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45. G.P.8

Author

Ozcan, O., primary, Durmus, H., additional, Tarhan, O., additional, Polat, Z., additional, Deymeer, F., additional, Parman, Y., additional, and Oflazer-Serdaroglu, P., additional

Published
2014
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47. European consensus table on the use of botulinum toxin type A in adult spasticity.

Author

Wissel, J., Ward, A.B., Erztgaard, P., Bensmail, D., Hecht, M.J., Lejeune, T.M., Schnider, P., Altavista, M.C., Cavazza, S., Deltombe, T., Duarte, E., Geurts, A.C.H., Gracies, J.M., Haboubi, N.H., Juan, F.J., Kasch, H., Katterer, C., Kirazli, Y., Manganotti, P., Parman, Y., Paternostro-Sluga, T., Petropoulou, K., Prempeh, R., Rousseaux, M., Slawek, J., Tieranta, N., Wissel, J., Ward, A.B., Erztgaard, P., Bensmail, D., Hecht, M.J., Lejeune, T.M., Schnider, P., Altavista, M.C., Cavazza, S., Deltombe, T., Duarte, E., Geurts, A.C.H., Gracies, J.M., Haboubi, N.H., Juan, F.J., Kasch, H., Katterer, C., Kirazli, Y., Manganotti, P., Parman, Y., Paternostro-Sluga, T., Petropoulou, K., Prempeh, R., Rousseaux, M., Slawek, J., and Tieranta, N.

Abstract

Contains fulltext : 80790.pdf (publisher's version ) (Open Access), A group of clinicians from across Europe experienced in the use of botulinum toxin type A for the treatment of spasticity following acquired brain injury gathered to develop a consensus statement on best practice in managing adults with spasticity. This consensus table summarizes the current published data, which was collated following extensive literature searches, their assessment for level of evidence and discussion among the whole group. Published information is supplemented by expert opinion based on clinical experience from 16 European countries, involving 28 clinicians, who treat an average of approximately 200 patients annually, representing many thousand spasticity treatments with botulinum toxin per year.

Published
2009

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