Expanding the spectrum of KIF5A mutations-case report of a large kindred with familial ALS and overlapping syndrome.

Autor: Dulski J; Department of Neurology, Mayo Clinic, Jacksonville, FL, USA.; Division of Neurological and Psychiatric Nursing, Faculty of Health Sciences, Medical University of Gdansk, Gdansk, Poland.; Neurology Department, St Adalbert Hospital, Copernicus PL Ltd., Gdansk, Poland., Strongosky AJ; Department of Neurology, Mayo Clinic, Jacksonville, FL, USA., Al-Shaikh RH; Department of Neurology, Mayo Clinic, Jacksonville, FL, USA., Wszolek ZK; Department of Neurology, Mayo Clinic, Jacksonville, FL, USA.

Publikováno v: Amyotrophic lateral sclerosis & frontotemporal degeneration [Amyotroph Lateral Scler Frontotemporal Degener] 2023 May; Vol. 24 (3-4), pp. 347-350. Date of Electronic Publication: 2023 Jan 05.

Predominant motor neuron involvement as a manifestation of pathogenic (full range) ATXN3 mutations.

Autor: Dulski J; Department of Neurology, Mayo Clinic, 4500 San Pablo Rd, Jacksonville, FL, 32224, USA.; Division of Neurological and Psychiatric Nursing, Faculty of Health Sciences, Medical University of Gdansk, Gdansk, Poland.; Neurology Department, St Adalbert Hospital, Copernicus PL Ltd., Gdansk, Poland., Piña AES; Facultad de Medicina, Universidad Autónoma del Estado de México, Mexico, Mexico., Al-Shaikh RH; Department of Neurology, Mayo Clinic, 4500 San Pablo Rd, Jacksonville, FL, 32224, USA.; Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA., Petrucelli L; Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.; Mayo Clinic Graduate School of Biomedical Sciences, Jacksonville, FL, USA., Wszolek ZK; Department of Neurology, Mayo Clinic, 4500 San Pablo Rd, Jacksonville, FL, 32224, USA. Wszolek.Zbigniew@mayo.edu.

Publikováno v: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology [Neurol Sci] 2023 Jan; Vol. 44 (1), pp. 389-392. Date of Electronic Publication: 2022 Sep 23.

First report on spinocerebellar ataxia type 3 (Machado-Joseph disease) in Poland.

Autor: Dulski J; Department of Neurology, Mayo Clinic, Jacksonville, FL, USA; Division of Neurological and Psychiatric Nursing, Faculty of Health Sciences, Medical University of Gdansk, Gdansk, Poland; Neurology Department, St Adalbert Hospital, Copernicus PL Ltd., Gdansk, Poland., Al-Shaikh RH; Department of Neurology, Mayo Clinic, Jacksonville, FL, USA., Sulek A; Department of Genetics, Institute of Psychiatry and Neurology, Warsaw, Poland., Kasprzak J; Neurology Department, St Adalbert Hospital, Copernicus PL Ltd., Gdansk, Poland., Sławek J; Division of Neurological and Psychiatric Nursing, Faculty of Health Sciences, Medical University of Gdansk, Gdansk, Poland; Neurology Department, St Adalbert Hospital, Copernicus PL Ltd., Gdansk, Poland., Wszolek ZK; Department of Neurology, Mayo Clinic, Jacksonville, FL, USA. Electronic address: Wszolek.Zbigniew@mayo.edu.

Publikováno v: Parkinsonism & related disorders [Parkinsonism Relat Disord] 2022 Dec; Vol. 105, pp. 39-42. Date of Electronic Publication: 2022 Oct 28.

Toward allele-specific targeting therapy and pharmacodynamic marker for spinocerebellar ataxia type 3.

Autor: Prudencio M; Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA.; Neuroscience Graduate Program, Mayo Clinic Graduate School of Biomedical Sciences, Jacksonville, FL 32224, USA., Garcia-Moreno H; Ataxia Centre, Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Ataxia Centre, National Hospital for Neurology and Neurosurgery, University College London Hospitals NHS Trust, London WC1N 3BG, UK., Jansen-West KR; Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA., Al-Shaikh RH; Department of Neurology, Mayo Clinic, Jacksonville, FL 32224, USA., Gendron TF; Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA.; Neuroscience Graduate Program, Mayo Clinic Graduate School of Biomedical Sciences, Jacksonville, FL 32224, USA., Heckman MG; Division of Biomedical Statistics and Informatics, Mayo Clinic, Jacksonville, FL 32224, USA., Spiegel MR; Division of Biomedical Statistics and Informatics, Mayo Clinic, Jacksonville, FL 32224, USA., Carlomagno Y; Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA.; Neuroscience Graduate Program, Mayo Clinic Graduate School of Biomedical Sciences, Jacksonville, FL 32224, USA., Daughrity LM; Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA., Song Y; Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA., Dunmore JA; Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA., Byron N; Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA., Oskarsson B; Department of Neurology, Mayo Clinic, Jacksonville, FL 32224, USA., Nicholson KA; Sean M. Healey and AMG Center for ALS, Massachusetts General Hospital (MGH), Boston, MA 02114, USA., Staff NP; Department of Neurology, Mayo Clinic, Rochester, MN 55905, USA., Gorcenco S; Lund University, Skåne University Hospital, Department of Clinical Sciences Lund, Neurology, Lund 22185, Sweden., Puschmann A; Lund University, Skåne University Hospital, Department of Clinical Sciences Lund, Neurology, Lund 22185, Sweden., Lemos J; Coimbra University Hospital Centre, Coimbra University, Coimbra 3000-075, Portugal., Januário C; Coimbra University Hospital Centre, Coimbra University, Coimbra 3000-075, Portugal., LeDoux MS; University of Memphis and Veracity Neuroscience LLC, Memphis, TN 38152, USA., Friedman JH; Department of Neurology, Warren Alpert Medical School of Brown University, Providence, RI 02906, USA., Polke J; Ataxia Centre, Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Ataxia Centre, National Hospital for Neurology and Neurosurgery, University College London Hospitals NHS Trust, London WC1N 3BG, UK., Labrum R; Ataxia Centre, Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Ataxia Centre, National Hospital for Neurology and Neurosurgery, University College London Hospitals NHS Trust, London WC1N 3BG, UK., Shakkottai V; Department of Neurology, University of Michigan, Ann Arbor, MI 48109, USA., McLoughlin HS; Department of Neurology, University of Michigan, Ann Arbor, MI 48109, USA., Paulson HL; Department of Neurology, University of Michigan, Ann Arbor, MI 48109, USA., Konno T; Department of Neurology, Brain Research Institute, Niigata University, Niigata 951-8585, Japan., Onodera O; Department of Neurology, Brain Research Institute, Niigata University, Niigata 951-8585, Japan., Ikeuchi T; Department of Molecular Genetics, Brain Research Institute, Niigata University, Niigata 951-8585, Japan., Tada M; Department of Pathology, Brain Research Institute, Niigata University, Niigata 951-8585, Japan., Kakita A; Department of Pathology, Brain Research Institute, Niigata University, Niigata 951-8585, Japan., Fryer JD; Neuroscience Graduate Program, Mayo Clinic Graduate School of Biomedical Sciences, Jacksonville, FL 32224, USA.; Department of Neuroscience, Mayo Clinic, Scottsdale, AZ 85259, USA., Karremo C; Lund University, Skåne University Hospital, Department of Clinical Sciences Lund, Neurology, Lund 22185, Sweden., Gomes I; Coimbra University Hospital Centre, Coimbra University, Coimbra 3000-075, Portugal., Caviness JN; Department of Neurology, Mayo Clinic, Scottsdale, AZ 85259, USA., Pittelkow MR; Department of Dermatology, Mayo Clinic, Scottsdale, AZ 85259, USA., Aasly J; Norwegian University of Science and Technology, 7006 Trondheim, Norway., Pfeiffer RF; Department of Neurology, Oregon Health & Science University, Portland, OR 97239, USA., Veerappan V; Department of Neurology, Oregon Health & Science University, Portland, OR 97239, USA., Eggenberger ER; Department of Neurology, Mayo Clinic, Jacksonville, FL 32224, USA., Freeman WD; Department of Neurology, Mayo Clinic, Jacksonville, FL 32224, USA., Huang JF; Department of Neurology, Mayo Clinic, Jacksonville, FL 32224, USA., Uitti RJ; Department of Neurology, Mayo Clinic, Jacksonville, FL 32224, USA., Wierenga KJ; Department of Neurology, Mayo Clinic, Jacksonville, FL 32224, USA., Marin Collazo IV; Department of Neurology, Mayo Clinic, Jacksonville, FL 32224, USA., Tipton PW; Department of Neurology, Mayo Clinic, Jacksonville, FL 32224, USA., van Gerpen JA; University of Alabama at Birmingham, Birmingham, AL 35233, USA., van Blitterswijk M; Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA.; Neuroscience Graduate Program, Mayo Clinic Graduate School of Biomedical Sciences, Jacksonville, FL 32224, USA., Bu G; Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA.; Neuroscience Graduate Program, Mayo Clinic Graduate School of Biomedical Sciences, Jacksonville, FL 32224, USA., Wszolek ZK; Department of Neurology, Mayo Clinic, Jacksonville, FL 32224, USA. wszolek.zbigniew@mayo.edu p.giunti@ucl.ac.uk petrucelli.leonard@mayo.edu., Giunti P; Ataxia Centre, Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK. wszolek.zbigniew@mayo.edu p.giunti@ucl.ac.uk petrucelli.leonard@mayo.edu.; Ataxia Centre, National Hospital for Neurology and Neurosurgery, University College London Hospitals NHS Trust, London WC1N 3BG, UK., Petrucelli L; Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA. wszolek.zbigniew@mayo.edu p.giunti@ucl.ac.uk petrucelli.leonard@mayo.edu.; Neuroscience Graduate Program, Mayo Clinic Graduate School of Biomedical Sciences, Jacksonville, FL 32224, USA.

Publikováno v: Science translational medicine [Sci Transl Med] 2020 Oct 21; Vol. 12 (566).

Progressive supranuclear palsy is not associated with neurogenic orthostatic hypotension.

Autor: van Gerpen JA; From the Departments of Neurology (J.A.v.G., R.H.A.-S., P.W.T., Z.K.W., R.J.U., W.P.C.), Psychiatry and Psychology (T.J.F.), and Neuroscience (D.W.D.) and Division of Biomedical Statistics and Informatics (M.G.H.), Mayo Clinic, Jacksonville, FL; and Department of Neurology (E.E.B., W.S., J.K.C.-G., K.A.J., P.A.L., J.E.A.) and Division of Biomedical Statistics and Informatics (D.E.B.), Mayo Clinic, Rochester, MN., Al-Shaikh RH; From the Departments of Neurology (J.A.v.G., R.H.A.-S., P.W.T., Z.K.W., R.J.U., W.P.C.), Psychiatry and Psychology (T.J.F.), and Neuroscience (D.W.D.) and Division of Biomedical Statistics and Informatics (M.G.H.), Mayo Clinic, Jacksonville, FL; and Department of Neurology (E.E.B., W.S., J.K.C.-G., K.A.J., P.A.L., J.E.A.) and Division of Biomedical Statistics and Informatics (D.E.B.), Mayo Clinic, Rochester, MN., Tipton PW; From the Departments of Neurology (J.A.v.G., R.H.A.-S., P.W.T., Z.K.W., R.J.U., W.P.C.), Psychiatry and Psychology (T.J.F.), and Neuroscience (D.W.D.) and Division of Biomedical Statistics and Informatics (M.G.H.), Mayo Clinic, Jacksonville, FL; and Department of Neurology (E.E.B., W.S., J.K.C.-G., K.A.J., P.A.L., J.E.A.) and Division of Biomedical Statistics and Informatics (D.E.B.), Mayo Clinic, Rochester, MN., Wszolek ZK; From the Departments of Neurology (J.A.v.G., R.H.A.-S., P.W.T., Z.K.W., R.J.U., W.P.C.), Psychiatry and Psychology (T.J.F.), and Neuroscience (D.W.D.) and Division of Biomedical Statistics and Informatics (M.G.H.), Mayo Clinic, Jacksonville, FL; and Department of Neurology (E.E.B., W.S., J.K.C.-G., K.A.J., P.A.L., J.E.A.) and Division of Biomedical Statistics and Informatics (D.E.B.), Mayo Clinic, Rochester, MN., Uitti RJ; From the Departments of Neurology (J.A.v.G., R.H.A.-S., P.W.T., Z.K.W., R.J.U., W.P.C.), Psychiatry and Psychology (T.J.F.), and Neuroscience (D.W.D.) and Division of Biomedical Statistics and Informatics (M.G.H.), Mayo Clinic, Jacksonville, FL; and Department of Neurology (E.E.B., W.S., J.K.C.-G., K.A.J., P.A.L., J.E.A.) and Division of Biomedical Statistics and Informatics (D.E.B.), Mayo Clinic, Rochester, MN., Ferman TJ; From the Departments of Neurology (J.A.v.G., R.H.A.-S., P.W.T., Z.K.W., R.J.U., W.P.C.), Psychiatry and Psychology (T.J.F.), and Neuroscience (D.W.D.) and Division of Biomedical Statistics and Informatics (M.G.H.), Mayo Clinic, Jacksonville, FL; and Department of Neurology (E.E.B., W.S., J.K.C.-G., K.A.J., P.A.L., J.E.A.) and Division of Biomedical Statistics and Informatics (D.E.B.), Mayo Clinic, Rochester, MN., Dickson DW; From the Departments of Neurology (J.A.v.G., R.H.A.-S., P.W.T., Z.K.W., R.J.U., W.P.C.), Psychiatry and Psychology (T.J.F.), and Neuroscience (D.W.D.) and Division of Biomedical Statistics and Informatics (M.G.H.), Mayo Clinic, Jacksonville, FL; and Department of Neurology (E.E.B., W.S., J.K.C.-G., K.A.J., P.A.L., J.E.A.) and Division of Biomedical Statistics and Informatics (D.E.B.), Mayo Clinic, Rochester, MN., Benarroch EE; From the Departments of Neurology (J.A.v.G., R.H.A.-S., P.W.T., Z.K.W., R.J.U., W.P.C.), Psychiatry and Psychology (T.J.F.), and Neuroscience (D.W.D.) and Division of Biomedical Statistics and Informatics (M.G.H.), Mayo Clinic, Jacksonville, FL; and Department of Neurology (E.E.B., W.S., J.K.C.-G., K.A.J., P.A.L., J.E.A.) and Division of Biomedical Statistics and Informatics (D.E.B.), Mayo Clinic, Rochester, MN., Singer W; From the Departments of Neurology (J.A.v.G., R.H.A.-S., P.W.T., Z.K.W., R.J.U., W.P.C.), Psychiatry and Psychology (T.J.F.), and Neuroscience (D.W.D.) and Division of Biomedical Statistics and Informatics (M.G.H.), Mayo Clinic, Jacksonville, FL; and Department of Neurology (E.E.B., W.S., J.K.C.-G., K.A.J., P.A.L., J.E.A.) and Division of Biomedical Statistics and Informatics (D.E.B.), Mayo Clinic, Rochester, MN., Cutsforth-Gregory JK; From the Departments of Neurology (J.A.v.G., R.H.A.-S., P.W.T., Z.K.W., R.J.U., W.P.C.), Psychiatry and Psychology (T.J.F.), and Neuroscience (D.W.D.) and Division of Biomedical Statistics and Informatics (M.G.H.), Mayo Clinic, Jacksonville, FL; and Department of Neurology (E.E.B., W.S., J.K.C.-G., K.A.J., P.A.L., J.E.A.) and Division of Biomedical Statistics and Informatics (D.E.B.), Mayo Clinic, Rochester, MN., Heckman MG; From the Departments of Neurology (J.A.v.G., R.H.A.-S., P.W.T., Z.K.W., R.J.U., W.P.C.), Psychiatry and Psychology (T.J.F.), and Neuroscience (D.W.D.) and Division of Biomedical Statistics and Informatics (M.G.H.), Mayo Clinic, Jacksonville, FL; and Department of Neurology (E.E.B., W.S., J.K.C.-G., K.A.J., P.A.L., J.E.A.) and Division of Biomedical Statistics and Informatics (D.E.B.), Mayo Clinic, Rochester, MN., Brushaber DE; From the Departments of Neurology (J.A.v.G., R.H.A.-S., P.W.T., Z.K.W., R.J.U., W.P.C.), Psychiatry and Psychology (T.J.F.), and Neuroscience (D.W.D.) and Division of Biomedical Statistics and Informatics (M.G.H.), Mayo Clinic, Jacksonville, FL; and Department of Neurology (E.E.B., W.S., J.K.C.-G., K.A.J., P.A.L., J.E.A.) and Division of Biomedical Statistics and Informatics (D.E.B.), Mayo Clinic, Rochester, MN., Josephs KA; From the Departments of Neurology (J.A.v.G., R.H.A.-S., P.W.T., Z.K.W., R.J.U., W.P.C.), Psychiatry and Psychology (T.J.F.), and Neuroscience (D.W.D.) and Division of Biomedical Statistics and Informatics (M.G.H.), Mayo Clinic, Jacksonville, FL; and Department of Neurology (E.E.B., W.S., J.K.C.-G., K.A.J., P.A.L., J.E.A.) and Division of Biomedical Statistics and Informatics (D.E.B.), Mayo Clinic, Rochester, MN., Low PA; From the Departments of Neurology (J.A.v.G., R.H.A.-S., P.W.T., Z.K.W., R.J.U., W.P.C.), Psychiatry and Psychology (T.J.F.), and Neuroscience (D.W.D.) and Division of Biomedical Statistics and Informatics (M.G.H.), Mayo Clinic, Jacksonville, FL; and Department of Neurology (E.E.B., W.S., J.K.C.-G., K.A.J., P.A.L., J.E.A.) and Division of Biomedical Statistics and Informatics (D.E.B.), Mayo Clinic, Rochester, MN., Ahlskog JE; From the Departments of Neurology (J.A.v.G., R.H.A.-S., P.W.T., Z.K.W., R.J.U., W.P.C.), Psychiatry and Psychology (T.J.F.), and Neuroscience (D.W.D.) and Division of Biomedical Statistics and Informatics (M.G.H.), Mayo Clinic, Jacksonville, FL; and Department of Neurology (E.E.B., W.S., J.K.C.-G., K.A.J., P.A.L., J.E.A.) and Division of Biomedical Statistics and Informatics (D.E.B.), Mayo Clinic, Rochester, MN., Cheshire WP; From the Departments of Neurology (J.A.v.G., R.H.A.-S., P.W.T., Z.K.W., R.J.U., W.P.C.), Psychiatry and Psychology (T.J.F.), and Neuroscience (D.W.D.) and Division of Biomedical Statistics and Informatics (M.G.H.), Mayo Clinic, Jacksonville, FL; and Department of Neurology (E.E.B., W.S., J.K.C.-G., K.A.J., P.A.L., J.E.A.) and Division of Biomedical Statistics and Informatics (D.E.B.), Mayo Clinic, Rochester, MN. cheshire@mayo.edu.

Publikováno v: Neurology [Neurology] 2019 Oct 01; Vol. 93 (14), pp. e1339-e1347. Date of Electronic Publication: 2019 Sep 04.