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Byline: C. Globas (1), S. Bosch (2), Ch. Zuhlke (3), I. Daum (4), J. Dichgans (1), K. Burk (1) Keywords: Spinocerebellar ataxia; autosomal-dominant cerebellar ataxia; cerebellum; cognition; SCA6 Abstract: Abstract. The aim of this study was to assess cognitive function in patients with spinocerebellar ataxia type 6 (SCA6), an autosomal-dominantly inherited disease leading to a progressive cerebellar syndrome. In contrast to other SCA types, the pathological changes are mostly restricted to the cerebellum. Cognitive function was studied in 12 patients with genetically confirmed SCA6 (mean duration of disease: 9.2 +- 11.6 years) and 12 age- and IQ-matched controls using a test battery comprising tests for IQ, attention, verbal and visuospatial memory, as well as executive function. While none of the SCA6 subjects had features of general intellectual impairment, only mild deficits in single subtests especially in fronto-executive tasks were observed, but without reaching statistical significance. Thus the current findings do not demonstrate severe cognitive dysfunction in SCA6. Author Affiliation: (1) Department of Neurology, University of Tubingen, Hoppe-Seyler-Str. 3, 72076, Tubingen, Germany (2) Department of Neurology, University of Innsbruck, Austria (3) Department of Human Genetics, University of Lubeck, Germany (4) Department of Clinical Neuropsychology, University of Bochum, Germany Article History: Registration Date: 01/01/2003 Received Date: 13/02/2003 Accepted Date: 19/08/2003

Byline: K. Burk (1), C. Globas (1), S. Bosch (1), T. Klockgether (2), C. Zuhlke (3), I. Daum (4), J. Dichgans (1) Keywords: Key words spinocerebellar ataxia; cerebellum; cognition; executive dysfunction Abstract: Cognitive impairment was studied in distinct types of spinocerebellar ataxia (SCA): eleven SCA1, 14 SCA2, and 11 SCA3 individuals and 8 age- and IQ- matched controls. All were submitted to a neuropsychological test battery that comprised tests for IQ, attention, executive function, verbal and visuospatial memory. Executive dysfunction was prominent in SCA1 as compared with controls and all other SCA types. Mild deficits of verbal memory were present in SCA1, SCA2 and SCA3. The neuropathological pattern in different SCA types suggests that these cognitive deficits are not likely to be contingent upon cerebellar degeneration but to result from disruption of a cerebrocerebellar circuitry presumably at the pontine level. Author Affiliation: (1) Department of Neurology, University of Tubingen, Hoppe-Seyler-Str. 3, 72076 Tubingen, Germany. buerk@uni-tuebingen.de, DE (2) Department of Neurology, University of Bonn, Bonn, Germany, DE (3) Institute of Human Genetics, University of Lubeck, Lubeck, Germany, DE (4) Department of Clinical Neuropsychology, University of Bochum, Bochum, Germany, DE Article note: Received: 26 November 2002, Received in revised form: 13 September 2002, Accepted: 24 September 2002 Correspondence to K. Burk, MD

Byline: K. Burk (1), G. Stevanin (3), O. Didierjean (3), G. Cancel (3), Y. Trottier (4), M. Skalej (2), M. Abele (1), A. Brice (3), J. Dichgans (1), T. Klockgether (1) Keywords: Key words Cerebellar ataxia; Autosomal dominance; SCA2 locus Abstract: The detailed clinical, electrophysiological and imaging data of three German autosomal dominant cerebellar ataxia (ADCA) families are reported. Linkage to SCA2 was established using microsatellite markers D12S105, D12S1339(1328), D12S1340(1329) yielding a lod score exceeding +3.0 for the combined data. Analysis of the pedigree data provided evidence of anticipation as observed in other neurodegenerative disorders due to polyglutamine expansion encoded by a CAG repeat. This hypothesis was confirmed by the detection of the SCA2-specific pathological protein using the 1C2 monoclonal antibody which selectively recognizes large polyglutamine expansions and the characterization of a CAG expansion in the patients. Clinically, the families were characterized by progressive ataxia of stance, gait and limbs. Saccade velocity was markedly reduced in SCA2. Further oculomotor findings were gaze palsy, impaired smooth pursuit and reduced optokinetic reflex. Dementia and pyramidal tract signs were rather rare, while peripheral involvement (reduced or absent ankle reflexes, fasciculation-like movements, amyotrophy) was a prominent feature. Electrophysiological investigations provided evidence of sensory neuropathy of the axonal type and degeneration of the posterior columns. Imaging studies demonstrated severe shrinkage of brain-stem structures even in early stages of the disease. Author Affiliation: (1) Department of Neurology, University of Tubingen, Hoppe-Seyler-Strasse 3, D-72076 Tubingen, Germany Tel.: 49 70 71 29 8 21 41, Fax: 49 70 71 29 65 07, DE (2) Department of Neuroradiology, University of Tubingen, Tubingen, Germany, DE (3) Inserm U 289, Mecanismes et Consequences de la Mort Neuronale, Hopital de la Salpetriere, Paris, France, FR (4) Institut de Genetique et de Biologie Moleculaire et Cellulaire (IGBMC), Illkirch, France, FR Article note: Received: 10 September 1996 Accepted: 8 December 1996

Author(s): A. Sentrk [1]; S. Pfennig [1]; A. Weiss [1]; K. Burk [1]; A. Acker-Palmer (corresponding author) [1] replying to T. Pohlkamp et al . Nature 539, http://dx.doi.org/10.1038/nature20129 (2016). In [...]

Byline: Ch. Zuhlke (5), A. Budnik (5), U. Gehlken (5), A. Dalski (5), S. Purmann (5), M. Naumann (1), M. Schmidt (2), K. Burk (3,4), E. Schwinger (5) Author Affiliation: (1) Klinik fur Neurologie, Universitat Wurzburg, Germany (2) Arzt fur Allgemeinmedizin, Burgsinn, Germany (3) Klinik fur Neurologie, Universitat Tubingen, Germany (4) Klinik fur Neurologie, Universitat Ulm, Germany (5) Institut fur Humangenetik, Ratzeburger Allee 160, 23538, Lubeck, Germany Article History: Registration Date: 01/01/2004 Received Date: 10/03/2004 Accepted Date: 26/05/2004