OBJECTIVE: To determine the frequency, in the UK, of sporadic Creutzfeldt-Jakob Disease (sCJD) with a cerebellar ataxic onset, and to describe the clinical features of the syndrome. METHODS: A retrospective review of autopsy-proved cases of sCJD cases in the UK, 1990-2005, identifying those presenting with cerebellar features without early cognitive decline. RESULTS: 29 of 618 (5%) patients with sCJD had an isolated cerebellar onset. Mean illness duration was 9 months. Subsequently, 21 (72%) developed myoclonus and 23 (79%) developed pyramidal features. Magnetic resonance imaging showed high signal in the basal ganglia in 11 of 14 (79%) patients. 7 of 15 (47%) patients were valine homozygotic at prion protein gene (PRNP)-129. Only 8 (28%) cases were referred to the surveillance unit after death. CONCLUSION: A better definition of sCJD presenting with an isolated cerebellar syndrome might improve future case recognition and contribute to the determination of its cause.
OBJECTIVE: To determine the frequency, in the UK, of sporadic Creutzfeldt-Jakob Disease (sCJD) with a cerebellar ataxic onset, and to describe the clinical features of the syndrome. METHODS: A retrospective review of autopsy-proved cases of sCJD cases in the UK, 1990-2005, identifying those presenting with cerebellar features without early cognitive decline. RESULTS: 29 of 618 (5%) patients with sCJD had an isolated cerebellar onset. Mean illness duration was 9 months. Subsequently, 21 (72%) developed myoclonus and 23 (79%) developed pyramidal features. Magnetic resonance imaging showed high signal in the basal ganglia in 11 of 14 (79%) patients. 7 of 15 (47%) patients were valine homozygotic at prion protein gene (PRNP)-129. Only 8 (28%) cases were referred to the surveillance unit after death. CONCLUSION: A better definition of sCJD presenting with an isolated cerebellar syndrome might improve future case recognition and contribute to the determination of its cause.
Authors: S Poser; B Mollenhauer; A Kraubeta; I Zerr; B J Steinhoff; A Schroeter; M Finkenstaedt; W J Schulz-Schaeffer; H A Kretzschmar; K Felgenhauer Journal: Brain Date: 1999-12 Impact factor: 13.501
Authors: F Graus; F Keime-Guibert; R Reñe; B Benyahia; T Ribalta; C Ascaso; G Escaramis; J Y Delattre Journal: Brain Date: 2001-06 Impact factor: 13.501
Authors: J A Mastrianni; M T Curtis; J C Oberholtzer; M M Da Costa; S DeArmond; S B Prusiner; J Y Garbern Journal: Neurology Date: 1995-11 Impact factor: 9.910
Authors: P Brown; C J Gibbs; P Rodgers-Johnson; D M Asher; M P Sulima; A Bacote; L G Goldfarb; D C Gajdusek Journal: Ann Neurol Date: 1994-05 Impact factor: 10.422
Authors: Bart Van Everbroeck; Itte Dobbeleir; Michele De Waele; Peter De Deyn; Jean-Jacques Martin; Patrick Cras Journal: J Neurol Date: 2004-03 Impact factor: 4.849
Authors: Javier Riancho; Manuel Delgado-Alvarado; José Luis Fernández-Torre; Pascual Sánchez-Juan; Jose Miguel Polo Journal: J Neurol Date: 2016-02-12 Impact factor: 4.849
Authors: Leonardo Baldarçara; Stuart Currie; M Hadjivassiliou; Nigel Hoggard; Allison Jack; Andrea P Jackowski; Mario Mascalchi; Cecilia Parazzini; Kathrin Reetz; Andrea Righini; Jörg B Schulz; Alessandra Vella; Sara Jane Webb; Christophe Habas Journal: Cerebellum Date: 2015-04 Impact factor: 3.847