Early symptoms in spinocerebellar ataxia type 1, 2, 3, and 6

Christoph Globas, Sophie Tezenas du Montcel, L. Balikó, Syliva Boesch, Chantal Depondt, Stefano DiDonato, Alexandra Durr, Alessandro Filla, Thomas Klockgether, Caterina Mariotti, B. Melegh, Maryla Rakowicz, Pascale Ribai, Rafal Rola, Tanja Schmitz-Hubsch, Sandra Szymanski, Dagmar Timmann, Bart P. Van de Warrenburg, Peter Bauer, Ludger Schols

Research output: Contribution to journalArticle

69 Citations (Scopus)

Abstract

Onset of genetically determined neurodegenerative diseases is difficult to specify because of their insidious and slowly progressive nature. This is especially true for spinocerebellar ataxia (SCA) because of varying affection of many parts of the nervous system and huge variability of symptoms. We investigated early symptoms in 287 patients with SCA1, SCA2, SCA3, or SCA6 and calculated the influence of CAG repeat length on age of onset depending on (1) the definition of disease onset, (2) people defining onset, and (3) duration of symptoms. Gait difficulty was the initial symptom in two-thirds of patients. Double vision, dysarthria, impaired hand writing, and episodic vertigo preceded ataxia in 4% of patients, respectively. Frequency of other early symptoms did not differ from controls and was regarded unspecific. Data about disease onset varied between patients and relatives for 1 year or more in 44% of cases. Influence of repeat length on age of onset was maximum when onset was defined as beginning of permanent gait disturbance and cases with symptoms for more than 10 years were excluded. Under these conditions, CAG repeat length determined 64% of onset variability in SCA1, 67% in SCA2, 46% in SCA3, and 41% in SCA6 demonstrating substantial influence of nonrepeat factors on disease onset in all SCA subtypes. Identification of these factors is of interest as potential targets for disease modifying compounds. In this respect, recognition of early symptoms that develop before onset of ataxia is mandatory to determine the shift from presymptomatic to affected status in SCA.

Original languageEnglish
Pages (from-to)2232-2238
Number of pages7
JournalMovement Disorders
Volume23
Issue number15
DOIs
Publication statusPublished - Nov 15 2008

Fingerprint

Spinocerebellar Ataxias
Ataxia
Gait
Age of Onset
Dysarthria
Diplopia
Vertigo
Neurodegenerative Diseases
Nervous System
Hand

Keywords

  • CAG repeat expansion
  • Determinants of age at onset
  • Early symptoms
  • Spinocerebellar ataxia

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology

Cite this

Globas, C., du Montcel, S. T., Balikó, L., Boesch, S., Depondt, C., DiDonato, S., ... Schols, L. (2008). Early symptoms in spinocerebellar ataxia type 1, 2, 3, and 6. Movement Disorders, 23(15), 2232-2238. https://doi.org/10.1002/mds.22288

Early symptoms in spinocerebellar ataxia type 1, 2, 3, and 6. / Globas, Christoph; du Montcel, Sophie Tezenas; Balikó, L.; Boesch, Syliva; Depondt, Chantal; DiDonato, Stefano; Durr, Alexandra; Filla, Alessandro; Klockgether, Thomas; Mariotti, Caterina; Melegh, B.; Rakowicz, Maryla; Ribai, Pascale; Rola, Rafal; Schmitz-Hubsch, Tanja; Szymanski, Sandra; Timmann, Dagmar; Van de Warrenburg, Bart P.; Bauer, Peter; Schols, Ludger.

In: Movement Disorders, Vol. 23, No. 15, 15.11.2008, p. 2232-2238.

Research output: Contribution to journalArticle

Globas, C, du Montcel, ST, Balikó, L, Boesch, S, Depondt, C, DiDonato, S, Durr, A, Filla, A, Klockgether, T, Mariotti, C, Melegh, B, Rakowicz, M, Ribai, P, Rola, R, Schmitz-Hubsch, T, Szymanski, S, Timmann, D, Van de Warrenburg, BP, Bauer, P & Schols, L 2008, 'Early symptoms in spinocerebellar ataxia type 1, 2, 3, and 6', Movement Disorders, vol. 23, no. 15, pp. 2232-2238. https://doi.org/10.1002/mds.22288
Globas C, du Montcel ST, Balikó L, Boesch S, Depondt C, DiDonato S et al. Early symptoms in spinocerebellar ataxia type 1, 2, 3, and 6. Movement Disorders. 2008 Nov 15;23(15):2232-2238. https://doi.org/10.1002/mds.22288
Globas, Christoph ; du Montcel, Sophie Tezenas ; Balikó, L. ; Boesch, Syliva ; Depondt, Chantal ; DiDonato, Stefano ; Durr, Alexandra ; Filla, Alessandro ; Klockgether, Thomas ; Mariotti, Caterina ; Melegh, B. ; Rakowicz, Maryla ; Ribai, Pascale ; Rola, Rafal ; Schmitz-Hubsch, Tanja ; Szymanski, Sandra ; Timmann, Dagmar ; Van de Warrenburg, Bart P. ; Bauer, Peter ; Schols, Ludger. / Early symptoms in spinocerebellar ataxia type 1, 2, 3, and 6. In: Movement Disorders. 2008 ; Vol. 23, No. 15. pp. 2232-2238.
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