Our center was established in 1975 and became the first and unique neuromuscular department in Turkey. It is located in Istanbul, the cultural and economic capital of the country. As a reference center, more than 13000 patients with neuromuscular diseases are registered in our department. Moreover, we have a reference neuropathology laboratory that receives muscle, nerve, and skin biopsies from all over the country.
We have been following and caring amyotrophic lateral sclerosis (ALS) patients with a multidisciplinary team, that includes, an electrophysiologist, a physiotherapist, a specialized nurse, a dietician, and a highly experienced pulmonology team. Our ALS database consists of more than 800 patients, and about 10% have a mutation in the known ALS genes.
In the last ten years, our department has been involved in multiple multicentered clinical trials in the neuromuscular field, including transthyretin amyloidosis, Duchenne muscular dystrophy, and Pompe disease. Regarding ALS, we participated in multicenter studies to understand the genetic background and to discover biomarkers for the disease progression. In the multicentered validation study of cerebrospinal fluid (CSF) neurofilaments (SOPHIA – Sampling and biomarker OPtimization and Harmonization in ALS and other motor neuron diseases) five patients were recruited from our cohort and one hundred and seventy-three patients in a genome-wide association study (Project MinE). Our center has a specialized clinical trial unit with multiple site coordinators specialized in clinical trials. Moreover, Phase 1 Clinical Trial Center of the Istanbul Faculty of Medicine has recently been established.
The strengths of our center include a reference electromyography (EMG) laboratory with a working staff that includes three professors and three electrophysiology technicians. Other than the routine diagnostic tests, EMG laboratory has expertise in the recently emerged electrophysiological biomarkers of the disease progression, such as motor unit number index (MUNIX) and motor unit number estimation (MUNE). Furthermore, we have a neuropsychology laboratory with two neuropsychologists who perform cognitive tests on various neurological conditions, including ALS. In our facility, we have access to a 3-Tesla MRI, which is primarily used for research purposes. We have strong collaborations with the Neuroscience Department of the Istanbul University, Aziz Sancar Institute of Experimental Medicine (DATAE), and the Medical Genetics Department. Immunological and genetic tests, such as ELISA, Western blot, CSF neurofilament light chain analysis, SOD1 sequencing, RCR, and RT-PCT analyses are performed.
| Neuromuscular Unit of Istanbul University | |
|---|---|
| Foundation year | 1975 |
| Director | Prof Yesim Parman |
| Principal investigator | Prof Yesim Parman |
| Contact information | |
|---|---|
| Address | Neurology Department of Istanbul Faculty of Medicine, 34093, Fatih, Istanbul, Turkey |
| Contact | Yesim Parman |
| Phone | +902124142477 |
| parmany@istanbul.edu.tr | |
| Website | Visit the website |
Publications
- van Rheenen W, Shatunov A, Dekker AM, McLaughlin RL, Diekstra FP, Pulit SL, van der Spek RA, Võsa U, de Jong S, Robinson MR, Yang J, Fogh I, van Doormaal PT, Tazelaar GH, Koppers M, Blokhuis AM, Sproviero W, Jones AR, Kenna KP, van Eijk KR, Harschnitz O, Schellevis RD, Brands WJ, Medic J, Menelaou A, Vajda A, Ticozzi N, Lin K, Rogelj B, Vrabec K, Ravnik-Glavač M, Koritnik B, Zidar J, Leonardis L, Grošelj LD, Millecamps S, Salachas F, Meininger V, de Carvalho M, Pinto S, Mora JS, Rojas-García R, Polak M, Chandran S, Colville S, Swingler R, Morrison KE, Shaw PJ, Hardy J, Orrell RW, Pittman A, Sidle K, Fratta P, Malaspina A, Topp S, Petri S, Abdulla S, Drepper C, Sendtner M, Meyer T, Ophoff RA, Staats KA, Wiedau-Pazos M, Lomen-Hoerth C, Van Deerlin VM, Trojanowski JQ, Elman L, McCluskey L, Basak AN, Tunca C, Hamzeiy H, Parman Y, Meitinger T, Lichtner P, Radivojkov-Blagojevic M, Andres CR, Maurel C, Bensimon G, Landwehrmeyer B, Brice A, Payan CA, Saker-Delye S, Dürr A, Wood NW, Tittmann L, Lieb W, Franke A, Rietschel M, Cichon S, Nöthen MM, Amouyel P, Tzourio C, Dartigues JF, Uitterlinden AG, Rivadeneira F, Estrada K, Hofman A, Curtis C, Blauw HM, van der Kooi AJ, de Visser M, Goris A, Weber M, Shaw CE, Smith BN, Pansarasa O, Cereda C, Del Bo R, Comi GP, D’Alfonso S, Bertolin C, Sorarù G, Mazzini L, Pensato V, Gellera C, Tiloca C, Ratti A, Calvo A, Moglia C, Brunetti M, Arcuti S, Capozzo R, Zecca C, Lunetta C, Penco S, Riva N, Padovani A, Filosto M, Muller B, Stuit RJ; PARALS Registry; SLALOM Group; SLAP Registry; FALS Sequencing Consortium; SLAGEN Consortium; NNIPPS Study Group; Blair I, Zhang K, McCann EP, Fifita JA, Nicholson GA, Rowe DB, Pamphlett R, Kiernan MC, Grosskreutz J, Witte OW, Ringer T, Prell T, Stubendorff B, Kurth I, Hübner CA, Leigh PN, Casale F, Chio A, Beghi E, Pupillo E, Tortelli R, Logroscino G, Powell J, Ludolph AC, Weishaupt JH, Robberecht W, Van Damme P, Franke L, Pers TH, Brown RH, Glass JD, Landers JE, Hardiman O, Andersen PM, Corcia P, Vourc’h P, Silani V, Wray NR, Visscher PM, de Bakker PI, van Es MA, Pasterkamp RJ, Lewis CM, Breen G, Al-Chalabi A, van den Berg LH, Veldink JH. Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis. Nat Genet. 2016 Sep;48(9):1043-8.
- Özoğuz A, Uyan Ö, Birdal G, Iskender C, Kartal E, Lahut S, Ömür Ö, Agim ZS, Eken AG, Sen NE, Kavak P, Saygı C, Sapp PC, Keagle P, Parman Y, Tan E, Koç F, Deymeer F, Oflazer P, Hanağası H, Gürvit H, Bilgiç B, Durmuş H, Ertaş M, Kotan D, Akalın MA, Güllüoğlu H, Zarifoğlu M, Aysal F, Döşoğlu N, Bilguvar K, Günel M, Keskin Ö, Akgün T, Özçelik H, Landers JE, Brown RH, Başak AN. The distinct genetic pattern of ALS in Turkey and novel mutations. Neurobiol Aging. 2015 Apr;36(4):1764.e9-1764.e18.
- Tunca C, Şeker T, Akçimen F, Coşkun C, Bayraktar E, Palvadeau R, Zor S, Koçoğlu C, Kartal E, Şen NE, Hamzeiy H, Özoğuz Erimiş A, Norman U, Karakahya O, Olgun G, Akgün T, Durmuş H, Şahin E, Çakar A, Başar Gürsoy E, Babacan Yıldız G, İşak B, Uluç K, Hanağası H, Bilgiç B, Turgut N, Aysal F, Ertaş M, Boz C, Kotan D, İdrisoğlu H, Soysal A, Uzun Adatepe N, Akalın MA, Koç F, Tan E, Oflazer P, Deymeer F, Taştan Ö, Çiçek AE, Kavak E, Parman Y, Başak AN. Revisiting the complex architecture of ALS in Turkey: Expanding genotypes, shared phenotypes, molecular networks, and a public variant database. Hum Mutat. 2020 Aug;41(8):e7-e45.
- Pihtili A, Bingol Z, Durmus H, Parman Y, Kiyan E. Diaphragmatic dysfunction at the first visit to a chest diseases outpatient clinic in 500 patients with amyotrophic lateral sclerosis. Muscle Nerve. 2021 May;63(5):683-689.
- Mrabet H, Borhani-Haghighi A, Koseoglu E, Mutlu M, Baydemir R, Nafissi S, Eschebbi S, Delibas E, Samangooie S, Yetkin F, Mrabet A, Parman Y, Heydari ST, Akman-Demir G. Association of amyotrophic lateral sclerosis and Behcet’s disease: is there a relationship? A multi-national case series. Clin Rheumatol. 2012 Apr;31(4):733-8.
Restricted information
| Serving population | |
|---|---|
| Serving population | As a reference center, more than 13000 patients with neuromuscular diseases are registered in our patient database. Annually, around 50-100 newly diagnosed ALS patients are referred to our department from various regions of Turkey. Moreover, we have a reference neuropathology laboratory that receives muscle, nerve, and skin biopsies from all over the country. |
| Patient resources | |
|---|---|
| Population based register | No |
| Clinic based register | Yes |
| Geographically matched controls | Yes |
| Number of skin samples | 40 |
Banks
| Type | ALS Patients | Controls | Other |
|---|---|---|---|
| DNA bank | 60 | 60 | 200 |
| Serum bank | 100 | 200 | 200 |
| Research activities | |
|---|---|
| Clinical management research | Yes |
| Neuro epidemiology | Yes |
| Neuro physiology | Yes |
| Neuro imaging | Yes |
| Neuro psychology | Yes |
| Neuro pathology | Yes |
| Genomics | Yes |
| Transcriptomics | Yes |
| Metabolomics | Yes |
Clinical Trials - Industry sponsored
| Name | Type | Patients |
|---|---|---|
| APOLLO: The Study of an Investigational Drug, Patisiran (ALN-TTR02), for the Treatment of Transthyretin (TTR)-Mediated Amyloidosis | Phase 3 | |
| The Study of an Investigational Drug, Patisiran (ALN-TTR02), for the Treatment of Transthyretin (TTR)-Mediated Amyloidosis in Patients Who Have Already Been Treated With ALN-TTR02 (Patisiran) | OLE | |
| NEURO-TTRansform: A Study to Evaluate the Efficacy and Safety of Eplontersen (Formerly Known as ION-682884, IONIS-TTR-LRx and AKCEA-TTR-LRx) in Participants With Hereditary Transthyretin-Mediated Amyloid Polyneuropathy | Phase 3 | |
| Study to Compare the Efficacy and Safety of Enzyme Replacement Therapies Avalglucosidase Alfa and Alglucosidase Alfa Administered Every Other Week in Patients With Late-onset Pompe Disease Who Have Not Been Previously Treated for Pompe Disease (COMET) | Phase 3 | |
| Long-Term Outcomes of Ataluren in Duchenne Muscular Dystrophy | Phase 3 | |
| Phase 3 Study to Assess the Efficacy and Safety of Batoclimab as Induction and Maintenance Therapy in Adult Participants With Generalized Myasthenia Gravis | Phase 3 | |
| Autologous T-cells Expressing a Chimeric Antigen Receptor Directed to B-Cell Maturation Antigen (BCMA) in patients with Generalized Myasthenia Gravis (GMG). | Phase 1b/2 |
Clinical Trials - Investigator initiated
There are no clinical trials for this centre