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2 results on '"Marka, van Blitterswijk"'

1. Preface: promoting research in PLS: current knowledge and future challenges

Author

Vincenzo Silani, Omar Jawdat, Sheena Chew, Annemarie Hübers, Jerome E. Kurent, Leonard H. van den Berg, Kourosh Rezania, Raghav Govindarajan, Osamu Kano, Teepu Siddique, Juan Marcos Solano Atehortua, Bjorn Oskarsson, Matthew B. Harms, John K. Fink, David Walk, Orla Hardiman, Senda Ajroud-Driss, Stephen N. Scelsa, Vivian E. Drory, Bryan Hill, Jose Americo M. Fernandes, Richard J. Barohn, Hiroshi Mitsumoto, Jennifer Murphy, Pam Factor-Litvak, and Family, James Wymer, Volkan Granit, Mitsuya Morita, Patricia L. Andres, Michael Benatar, Terry Heiman-Patterson, Frank Davis, Albert C. Ludolph, Philippe Corcia, Georg Haase, Nailah Siddique, Angela Genge, Justin Kwan, Dominic A. Ferrey, Christina Fournier, Bryan J. Traynor, Ian R. A. Mackenzie, Jinsy Andrews, Marka van Blitterswijk, David Pellerin, Ghazala Hayat, Dale J. Lange, John Ravits, Sabrina Paganoni, Edward D. Huey, Yasushi Kisanuki, Estela Area Gomez, Mamede de Carvalho, Mary Kay Floeter, Jeffrey Statland, Deborah L. Warden, Merit Cudkowicz, Giovanni Manfredi, Kristen Kau, Lauren Elman, Martin R Turner, Matthew C. Kiernan, Guy A. Rouleau, Sharon P. Nations, Robin Conwit, David Marren, Zachary Simmons, Suma Babu, Eoin Finegan, and Peter Bede

Subjects
medicine.medical_specialty, business.industry, Amyotrophic Lateral Sclerosis, MEDLINE, medicine.disease, 03 medical and health sciences, 0302 clinical medicine, Physical medicine and rehabilitation, Neurology, Humans, Medicine, Neurology (clinical), Amyotrophic lateral sclerosis, business, 030217 neurology & neurosurgery, Primary Lateral Sclerosis
Abstract

Primary lateral sclerosis (PLS) is a condition that most neurologists will never personally diagnose. For the estimated several thousand people living with PLS globally, while it may not be life-sh...

Published
2020
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2. Profilin-1 mutations are rare in patients with amyotrophic lateral sclerosis and frontotemporal dementia

Author

Neill R. Graff-Radford, Ronald C. Petersen, Keith A. Josephs, David S. Knopman, Richard J. Caselli, Kevin B. Boylan, Matt Baker, Kevin F. Bieniek, Zbigniew K. Wszolek, Dennis W. Dickson, Marka van Blitterswijk, Rosa Rademakers, and Bradley F. Boeve

Subjects
Male, Oncology, medicine.medical_specialty, Pathology, Genotype, Polymorphism, Single Nucleotide, Article, Cohort Studies, Profilins, symbols.namesake, Internal medicine, mental disorders, Humans, Medicine, Outpatient clinic, Amyotrophic lateral sclerosis, Genotyping, Aged, Sanger sequencing, business.industry, Amyotrophic Lateral Sclerosis, Case-control study, Brain, nutritional and metabolic diseases, Frontotemporal lobar degeneration, Middle Aged, medicine.disease, nervous system diseases, DNA-Binding Proteins, Neurology, Case-Control Studies, Frontotemporal Dementia, TDP-43 Proteinopathies, symbols, Female, Human medicine, Neurology (clinical), Frontotemporal Lobar Degeneration, business, Frontotemporal dementia
Abstract

Mutations in profilin-1 (PFN1) have recently been identified in patients with amyotrophic lateral sclerosis (ALS). Because of the considerable overlap between ALS and the common subtype of frontotemporal dementia, which is characterized by transactive response DNA-binding protein 43 pathology (FTLD-TDP), we tested cohorts of ALS and FTLD-TDP patients for PFN1 mutations. DNA was obtained from 342 ALS patients and 141 FTLD-TDP patients at our outpatient clinic and brain bank for neurodegenerative diseases at the Mayo Clinic Florida, Jacksonville, USA. We screened these patients for mutations in coding regions of PFN1 by Sanger sequencing. Subsequently, we used TaqMan genotyping assays to investigate the identified variant in 1167 control subjects. From the results, one variant, p.E117G, was detected in one ALS patient, one FTLD-TDP patient, and two control subjects. The mutation frequency of patients versus control subjects was not significantly different (p-value = 0.36). Moreover, PFN1 and TDP-43 staining of autopsy material did not differ between patients with or without this variant. In conclusion, the p.E117G variant appears to represent a benign polymorphism. PFN1 mutations, in general, are rare in ALS and FTLD-TDP patients.

Published
2013
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