Elena Cortés-Vicente1,2, Janina Turon-Sans1,2, Ellen Gelpi3,4, Jordi Clarimón4,5, Sergi Borrego-Écija6, Oriol Dols-Icardo5,7, Ignacio Illán-Gala5,7, Alberto Lleó5,7, Isabel Illa1,2, Rafael Blesa5,7, Ammar Al-Chalabi8, Ricard Rojas-García1,2. 1. Neuromuscular Diseases Unit, Department of Neurology, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain. 2. Center for Networked Biomedical Research into Rare Diseases (CIBERER), Madrid, Spain. 3. Neurological Tissue Bank of the Biobanc Hospital Clínic IDIBAPS, Barcelona, Spain. 4. Institute of Neurology, Medical University of Vienna, Vienna, Austria. 5. Memory Unit, Department of Neurology, and Sant Pau Biomedical Research Institute, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain. 6. Alzheimer and Other Cognitive Disorders Unit, Department of Neurology, Hospital Clinic of Barcelona, Barcelona, Spain. 7. Center for Networked Biomedical Research into Neurodegenerative Diseases (CIBERNED), Madrid, Spain. 8. Maurice Wohl Clinical Neuroscience Institute, Department of Basic and Clinical Neuroscience, King's College London, London, United Kingdom.
Abstract
AIM: To determine the motor phenotype and outcome in a clinically ascertained group of patients with motor neuron disease (MND) and frontotemporal dementia (FTD). METHODS: This is an observational retrospective clinical study of patients fulfilling the clinical criteria for MND-FTD. A contemporary series of patients with amyotrophic lateral sclerosis (ALS) without dementia were included for comparison. Demographic, clinical, genetic, and neuropathological data were collected. A descriptive and comparative data analysis was performed. RESULTS: We identified 22 patients with MND-FTD. Selective distal upper limb muscle weakness and atrophy with non-significant lower limb weakness during follow-up was the most frequent motor pattern, present in 18 patients - in 15 of them associated with severe dysphagia. Aspiration pneumonia was the most common cause of death (12/19; 63%) despite gastrostomy. One-third of the patients did not develop upper motor neuron dysfunction. When compared to classic ALS without dementia (n = 162), these features were significantly different. A neuro-pathological examination was performed on 7 patients, and it confirmed the presence of MND with TDP43 protein aggregates in all patients. CONCLUSIONS: The MND-FTD patients frequently displayed a distinctive motor pattern characterized by weakness and atrophy in distal upper limb muscles and dysphagia, with no or little spreading to other regions. These features may help to define specific subgroups of patients, which is important with regard to clinical management, outcome, and research.
AIM: To determine the motor phenotype and outcome in a clinically ascertained group of patients with motor neuron disease (MND) and frontotemporal dementia (FTD). METHODS: This is an observational retrospective clinical study of patients fulfilling the clinical criteria for MND-FTD. A contemporary series of patients with amyotrophic lateral sclerosis (ALS) without dementia were included for comparison. Demographic, clinical, genetic, and neuropathological data were collected. A descriptive and comparative data analysis was performed. RESULTS: We identified 22 patients with MND-FTD. Selective distal upper limb muscle weakness and atrophy with non-significant lower limb weakness during follow-up was the most frequent motor pattern, present in 18 patients - in 15 of them associated with severe dysphagia. Aspiration pneumonia was the most common cause of death (12/19; 63%) despite gastrostomy. One-third of the patients did not develop upper motor neuron dysfunction. When compared to classic ALS without dementia (n = 162), these features were significantly different. A neuro-pathological examination was performed on 7 patients, and it confirmed the presence of MND with TDP43 protein aggregates in all patients. CONCLUSIONS: The MND-FTDpatients frequently displayed a distinctive motor pattern characterized by weakness and atrophy in distal upper limb muscles and dysphagia, with no or little spreading to other regions. These features may help to define specific subgroups of patients, which is important with regard to clinical management, outcome, and research.
Authors: Sterre C M de Boer; Lina Riedl; Sven J van der Lee; Markus Otto; Sarah Anderl-Straub; Ramon Landin-Romero; Federica Sorrentino; Jay L P Fieldhouse; Lianne M Reus; Blanca Vacaflor; Glenda Halliday; Daniela Galimberti; Janine Diehl-Schmid; Simon Ducharme; Olivier Piguet; Yolande A L Pijnenburg Journal: J Alzheimers Dis Date: 2021 Impact factor: 4.472
Authors: Ignacio Illán-Gala; Victor Montal; Jordi Pegueroles; Eduard Vilaplana; Daniel Alcolea; Oriol Dols-Icardo; Noemi de Luna; Janina Turón-Sans; Elena Cortés-Vicente; Luis Martinez-Roman; Maria Belén Sánchez-Saudinós; Andrea Subirana; Laura Videla; Isabel Sala; Isabel Barroeta; Sílvia Valldeneu; Rafael Blesa; Jordi Clarimón; Alberto Lleó; Juan Fortea; Ricard Rojas-García Journal: Neurology Date: 2020-09-10 Impact factor: 9.910
Authors: David Reyes-Leiva; Oriol Dols-Icardo; Sonia Sirisi; Elena Cortés-Vicente; Janina Turon-Sans; Noemi de Luna; Rafael Blesa; Olivia Belbin; Victor Montal; Daniel Alcolea; Juan Fortea; Alberto Lleó; Ricard Rojas-García; Ignacio Illán-Gala Journal: Front Neurol Date: 2022-01-18 Impact factor: 4.003