title: Spinocerebellar ataxia types 1, 2, 3 and 6: the clinical spectrum of ataxia and morphometric brainstem and cerebellar findings.
abstract: To assess the clinical spectrum of ataxia and cerebellar oculomotor deficits in the most common spinocerebellar ataxias (SCAs), we analysed the baseline data of the EUROSCA natural history study, a multicentric cohort study of 526 patients with either spinocerebellar ataxia type 1, 2, 3 or 6. To quantify ataxia symptoms, we used the Scale for the Assessment and Rating of Ataxia (SARA). The presence of cerebellar oculomotor signs was assessed using the Inventory of Non-Ataxia Symptoms (INAS). In a subgroup of patients, in which magnetic resonance images (MRIs) were available, we correlated MRI morphometric measures with clinical signs on an exploratory basis. The SARA subscores posture and gait (items 1-3), speech (item 4) and the limb kinetic subscore (items 5-8) did not differ between the genotypes. The scores of SARA item 3 (sitting), 5 (finger chase) and 6 (nose-finger test) differed between the subtypes whereas the scores of the remaining items were not different. In SCA1, ataxia symptoms were correlated with brainstem atrophy and in SCA3 with both brainstem and cerebellar atrophy. Cerebellar oculomotor deficits were most frequent in SCA6 followed by SCA3, whereas these abnormalities were less frequent in SCA1 and SCA2. Our data suggest that vestibulocerebellar, spinocerebellar and pontocerebellar circuits in SCA1, SCA2, SCA3 and SCA6 are functionally impaired to almost the same degree, but at different anatomical levels. The seemingly low prevalence of cerebellar oculomotor deficits in SCA1 and SCA2 is most probably related to the defective saccadic system in these disorders.
authors.affiliation: Department of Neurology, University Hospital of Bonn, Sigmund-Freud-Straße 25, 53105 Bonn, Germany. heike.jacobi@ukb.uni-bonn.de
authors.forename: Heike
authors.initials: H
authors.lastname: Jacobi
authors.forename: Till-Karsten
authors.initials: TK
authors.lastname: Hauser
authors.forename: Paola
authors.initials: P
authors.lastname: Giunti
authors.forename: Christoph
authors.initials: C
authors.lastname: Globas
authors.forename: Peter
authors.initials: P
authors.lastname: Bauer
authors.forename: Tanja
authors.initials: T
authors.lastname: Schmitz-Hübsch
authors.forename: László
authors.initials: L
authors.lastname: Baliko
authors.forename: Alessandro
authors.initials: A
authors.lastname: Filla
authors.forename: Caterina
authors.initials: C
authors.lastname: Mariotti
authors.forename: Maria
authors.initials: M
authors.lastname: Rakowicz
authors.forename: Perine
authors.initials: P
authors.lastname: Charles
authors.forename: Pascale
authors.initials: P
authors.lastname: Ribai
authors.forename: Sandra
authors.initials: S
authors.lastname: Szymanski
authors.forename: Jon
authors.initials: J
authors.lastname: Infante
authors.forename: Bart P C
authors.initials: BP
authors.lastname: van de Warrenburg
authors.forename: Alexandra
authors.initials: A
authors.lastname: Dürr
authors.forename: Dagmar
authors.initials: D
authors.lastname: Timmann
authors.forename: Sylvia
authors.initials: S
authors.lastname: Boesch
authors.forename: Roberto
authors.initials: R
authors.lastname: Fancellu
authors.forename: Rafal
authors.initials: R
authors.lastname: Rola
authors.forename: Chantal
authors.initials: C
authors.lastname: Depondt
authors.forename: Ludger
authors.initials: L
authors.lastname: Schöls
authors.forename: Elzbieta
authors.initials: E
authors.lastname: Zdzienicka
authors.forename: Jun-Suk
authors.initials: JS
authors.lastname: Kang
authors.forename: Susanne
authors.initials: S
authors.lastname: Ratzka
authors.forename: Berry
authors.initials: B
authors.lastname: Kremer
authors.forename: Dennis A
authors.initials: DA
authors.lastname: Stephenson
authors.forename: Béla
authors.initials: B
authors.lastname: Melegh
authors.forename: Massimo
authors.initials: M
authors.lastname: Pandolfo
authors.forename: Sophie
authors.initials: S
authors.lastname: Tezenas du Montcel
authors.forename: Johannes
authors.initials: J
authors.lastname: Borkert
authors.forename: Jörg B
authors.initials: JB
authors.lastname: Schulz
authors.forename: Thomas
authors.initials: T
authors.lastname: Klockgether
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D001259:Ataxia / Q000175:diagnosis / Q000473:pathology; D001284:Atrophy; D001933:Brain Stem / Q000473:pathology*; D002531:Cerebellum / Q000473:pathology*; D015331:Cohort Studies; D005260:Female; D020233:Gait Disorders, Neurologic / Q000175:diagnosis / Q000473:pathology; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D020754:Spinocerebellar Ataxias / Q000175:diagnosis* / Q000473:pathology*; D055815:Young Adult