Mohammad Rohani1,2, Anthony E Lang1,3, Farzad Sina1, Elahe Elahi4, Alfonso Fasano1,3, John Hardy5, Jose Bras5, Afagh Alavi6. 1. Morton and Gloria Shulman Movement Disorders Clinic and the Edmond J. Safra Program in Parkinson's Disease Toronto Western Hospital and Division of Neurology University of Toronto Toronto Ontario Canada. 2. Department of Neurology Hazrat Rasool Hospital Iran University of Medical Sciences Tehran Iran. 3. Krembil Research Institute Toronto Ontario Canada. 4. School of Biology College of Science University of Tehran Tehran Iran. 5. UK Dementia Research Institute at UCL and Department of Molecular Neuroscience Institute of Neurology University College London Queen Square, London WC1N 3BG UK. 6. Genetics research center University of Social Welfare and Rehabilitation Sciences Tehran Iran.
Abstract
BACKGROUND: Kufor-Rakeb syndrome (KRS) is a rare autosomal recessive neurologic disease with diverse phenotypic features. Herein we report an Iranian KRS family with seizure and action myoclonus in addition to other typical manifestations of this syndrome. METHOD: All family members underwent careful neurologic examination. Exome sequencing was performed and ATP13A2 variation genotyped in all family members. RESULTS: Cognitive deficits, hypokinesia, rigidity, spasticity, brisk deep tendon reflexes, upward gaze palsy, tremor, and facial-faucial-finger mini-myoclonus were the common manifestations of all affected siblings. Two cases had seizure and the most severely affected sibling demonstrated severe action myoclonus. Exome sequencing identified a homozygous nonsense mutation c.2455C>T;p.Arg819* in ATP13A2 gene. CONCLUSIONS: We reported five KRS affected siblings who manifested myoclonus and seizure. The most severely affected one demonstrated action myoclonus, which has not been reported so far.
BACKGROUND: Kufor-Rakeb syndrome (KRS) is a rare autosomal recessive neurologic disease with diverse phenotypic features. Herein we report an Iranian KRS family with seizure and action myoclonus in addition to other typical manifestations of this syndrome. METHOD: All family members underwent careful neurologic examination. Exome sequencing was performed and ATP13A2 variation genotyped in all family members. RESULTS: Cognitive deficits, hypokinesia, rigidity, spasticity, brisk deep tendon reflexes, upward gaze palsy, tremor, and facial-faucial-finger mini-myoclonus were the common manifestations of all affected siblings. Two cases had seizure and the most severely affected sibling demonstrated severe action myoclonus. Exome sequencing identified a homozygous nonsense mutation c.2455C>T;p.Arg819* in ATP13A2 gene. CONCLUSIONS: We reported five KRS affected siblings who manifested myoclonus and seizure. The most severely affected one demonstrated action myoclonus, which has not been reported so far.
Entities:
Keywords:
ATP13A2 mutation; Kufor‐Rakeb syndrome; action myoclonus; neurodegeneration with brain iron accumulation; seizure
Authors: Maria I Behrens; Norbert Brüggemann; Pedro Chana; Pablo Venegas; Marianne Kägi; Teresa Parrao; Patricia Orellana; Cristian Garrido; Cecilia V Rojas; Jan Hauke; Eric Hahnen; Rafael González; Nicolas Seleme; Verónica Fernández; Alexander Schmidt; Ferdinand Binkofski; Detlef Kömpf; Christian Kubisch; Johann Hagenah; Christine Klein; Alfredo Ramirez Journal: Mov Disord Date: 2010-09-15 Impact factor: 10.338
Authors: Alfredo Ramirez; André Heimbach; Jan Gründemann; Barbara Stiller; Dan Hampshire; L Pablo Cid; Ingrid Goebel; Ammar F Mubaidin; Abdul-Latif Wriekat; Jochen Roeper; Amir Al-Din; Axel M Hillmer; Meliha Karsak; Birgit Liss; C Geoffrey Woods; Maria I Behrens; Christian Kubisch Journal: Nat Genet Date: 2006-09-10 Impact factor: 38.330
Authors: Susanne A Schneider; Coro Paisan-Ruiz; Niall P Quinn; Andrew J Lees; Henry Houlden; John Hardy; Kailash P Bhatia Journal: Mov Disord Date: 2010-06-15 Impact factor: 10.338
Authors: Leire Manrique; Antonio Sánchez-Rodríguez; Ana L Pelayo-Negro; Marc Corral-Juan; Antoni Matilla-Dueñas; Jon Infante Journal: Mov Disord Clin Pract Date: 2021-06-14