Potential Clinical Benefit of Very Long Chain Fatty Acid Supplementation in Spinocerebellar Ataxia Type 34.

Autor: Gazulla J; Department of Neurology, Hospital Universitario Miguel Servet. Isabel la Católica, 1-3, Zaragoza, 50009, Spain. josegazulla@gmail.com., Berciano J; Department of Neurology, Hospital Universitario Marqués de Valdecilla (IDIVAL), University of Cantabria, CIBERNED, Avenida de Valdecilla s/n, Santander, 39008, Spain.

Publikováno v: Cerebellum (London, England) [Cerebellum] 2024 Oct; Vol. 23 (5), pp. 2193-2196. Date of Electronic Publication: 2024 May 21.

External Laryngeal Tremor in Adult-Onset Alexander Disease: A Case Report.

Autor: Gazulla J; Department of Neurology, Hospital Universitario Miguel Servet. Isabel la Católica, Zaragoza, Spain., Rodríguez-Valle A; Section of Genetics, Department of Clinical Biochemistry, Hospital Universitario Miguel Servet, Zaragoza, Spain., Calatayud-Lallana LM; Department of Otolaryngology, Hospital Universitario Miguel Servet, Zaragoza, Spain., Berciano J; Department of Neurology, Hospital Universitario Marqués de Valdecilla (IDIVAL), University of Cantabria, CIBERNED, Santander, Spain.

Publikováno v: Case reports in neurology [Case Rep Neurol] 2024 May 03; Vol. 16 (1), pp. 129-135. Date of Electronic Publication: 2024 May 03 (Print Publication: 2024).

Intronic FGF14 GAA repeat expansions are a common cause of ataxia syndromes with neuropathy and bilateral vestibulopathy.

Autor: Pellerin D; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, University College London, London, UK matthis.synofzik@uni-tuebingen.de david.pellerin.21@ucl.ac.uk.; Department of Neurology and Neurosurgery, Montreal Neurological Hospital and Institute, McGill University, Montreal, QC, Canada., Wilke C; Research Division Translational Genomics of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, Tübingen, Germany.; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany., Traschütz A; Research Division Translational Genomics of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, Tübingen, Germany.; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany., Nagy S; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, University College London, London, UK.; Department of Neurology, University Hospital Basel, University of Basel, Basel, Switzerland., Currò R; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, University College London, London, UK.; Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy., Dicaire MJ; Department of Neurology and Neurosurgery, Montreal Neurological Hospital and Institute, McGill University, Montreal, QC, Canada., Garcia-Moreno H; Ataxia Centre, UCL Queen Square Institute of Neurology, University College London, London, UK.; National Hospital for Neurology and Neurosurgery, University College London Hospitals NHS Foundation Trust, London, UK., Anheim M; Service de Neurologie, Hôpitaux Universitaires de Strasbourg, Hôpital de Hautepierre, Strasbourg, France.; Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, Strasbourg, France., Wirth T; Service de Neurologie, Hôpitaux Universitaires de Strasbourg, Hôpital de Hautepierre, Strasbourg, France.; Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, Strasbourg, France., Faber J; Department of Neurology, University Hospital Bonn, Bonn, Germany.; German Center for Neurodegenerative Diseases (DZNE), Bonn, Germany., Timmann D; Department of Neurology and Center for Translational Neuro- and Behavioral Sciences (C-TNBS), Essen University Hospital, University of Duisburg-Essen, Essen, Germany., Depienne C; Institute of Human Genetics, Essen University Hospital, University of Duisburg-Essen, Essen, Germany., Rujescu D; Department of Psychiatry and Psychotherapy, Comprehensive Center for Clinical Neurosciences and Mental Health, Medical University of Vienna, Vienna, Austria., Gazulla J; Department of Neurology, Hospital Universitario Miguel Servet, Zaragoza, Spain., Reilly MM; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, University College London, London, UK., Giunti P; Ataxia Centre, UCL Queen Square Institute of Neurology, University College London, London, UK.; National Hospital for Neurology and Neurosurgery, University College London Hospitals NHS Foundation Trust, London, UK., Brais B; Department of Neurology and Neurosurgery, Montreal Neurological Hospital and Institute, McGill University, Montreal, QC, Canada.; Department of Human Genetics, McGill University, Montreal, QC, Canada.; Centre de Réadaptation Lucie-Bruneau, Montreal, QC, Canada., Houlden H; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, University College London, London, UK., Schöls L; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.; Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, Tübingen, Germany., Strupp M; Department of Neurology and German Center for Vertigo and Balance Disorders, LMU University Hospital, LMU Munich, Munich, Germany., Cortese A; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, University College London, London, UK.; Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy., Synofzik M; Research Division Translational Genomics of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, Tübingen, Germany matthis.synofzik@uni-tuebingen.de david.pellerin.21@ucl.ac.uk.; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.

Publikováno v: Journal of neurology, neurosurgery, and psychiatry [J Neurol Neurosurg Psychiatry] 2024 Jan 11; Vol. 95 (2), pp. 175-179. Date of Electronic Publication: 2024 Jan 11.

Familial clustering of primary lateral sclerosis and amyotrophic lateral sclerosis: Supplementary evidence for a continuum.

Autor: Gazulla J; Department of Neurology, Miguel Servet University Hospital, Zaragoza, Spain., Izquierdo-Alvarez S; Section of Genetics, Department of Clinical Biochemistry, Miguel Servet University Hospital, Zaragoza, Spain., Ruiz-Fernández E; Department of Neurology, Miguel Servet University Hospital, Zaragoza, Spain., Berciano J; Department of Neurology, Marqués de Valdecilla University Hospital, University of Cantabria, Network Biomedical Research Center on Neurodegenerative Diseases, Santander, Spain.

Publikováno v: European journal of neurology [Eur J Neurol] 2022 Jan; Vol. 29 (1), pp. e1-e2. Date of Electronic Publication: 2021 Nov 14.

Two-year follow-up of docosahexaenoic acid supplementation in spinocerebellar ataxia type 38 (SCA38).

Autor: Gazulla J; Department of Neurology, Hospital Universitario Miguel Servet, Isabel la Católica, 1-3, 50009, Zaragoza, Spain. josegazulla@gmail.com., Benavente I; Department of Clinical Neurophysiology, Hospital Universitario San Jorge, Huesca, Spain., García-González E; Department of Clinical Biochemistry, Hospital Universitario Miguel Servet, Zaragoza, Spain., Berciano J; Department of Neurology, Hospital Universitario Marqués de Valdecilla (IDIVAL), University of Cantabria, CIBERNED, Santander, Spain.

Publikováno v: Journal of neurology [J Neurol] 2022 Oct; Vol. 269 (10), pp. 5643-5646. Date of Electronic Publication: 2022 Apr 19.