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

Globas, Christoph and Tezenas du Montcel, Sophie and Balikó, László and Boesch, Sylvia and Depondt, Chantal and DiDonato, Stefano and Durr, Alexandra and Filla, Alessandro and Klockgether, Thomas and Mariotti, Caterina and Melegh, Béla and Rakowicz, Maria and Ribai, Pascale and Rola, Rafal and Schmitz-Hübsch, Tanja and Szymanski, Sandra and Timmann, Dagmar and van de Warrenburg, Bart P. and Bauer, Péter and Schols, Ludger (2008) Early symptoms in spinocerebellar ataxia type 1, 2, 3, and 6. MOVEMENT DISORDERS, 23 (15). pp. 2232-2238. ISSN 0885-3185

Text Balikó L Movement Dis 2008 23 15 p2232-2238.pdf - Published Version Restricted to Registered users only Download (3MB) | Request a copy

Abstract

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

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