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Spinocerebellar Ataxia: A Rational Approach to Aetiological Diagnosis

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Abstract

The objective of this study was to determine the main causal diagnosis for spinocerebellar ataxia (SCA) in a geographically defined population of ataxia patients and to suggest a rational basis for choosing appropriate clinical and paraclinical assessments. Given the many aetiologies responsible for SCA, the diagnosis requires the performance of a wide range of paraclinical analyses. At present, there is no consensus on the diagnostic value of these examinations. Furthermore, most of the currently available data gathered by reference centres suffer from selection bias. We performed a prospective study of consecutive cerebellar ataxia patients referred by their family doctors to a university hospital in northern France. Multiple system atrophy and obvious secondary causes (e.g. alcoholism) were excluded by our screening process. The patient’s family members were also assessed. Of the 204 patients examined, 47% presented autosomal dominant ataxia and 33% presented sporadic ataxia. Autosomal recessive ataxia was rare (8%) and age at onset was significantly earlier for this condition than for other forms. An aetiological diagnosis was established in 44% of patients, a plausible hypothesis could be formed in 13% of cases, and no diagnosis was made in the remaining 44%. Established diagnoses included SCA1, SCA2, SCA3 and SCA6 mutations, Friedreich’s ataxia, and one rare case of ataxia associated with anti-glutamic acid decarboxylase antibodies. Two families presented ataxia associated with autosomal, dominant, optic atrophy with an OPA1 mutation. Mitochondrial diseases were suspected in about 10% of patients. In SCA, reliable determination of the transmission mode always requires the assessment of family members. Mitochondrial disease may be an emerging cause of ataxia. Metabolite assays appeared to be of little value when systematically performed and so should be prescribed only by metabolic disorder specialists in selected cases of sporadic and recessive ataxia. Ophthalmological examination was the most helpful physiological assessment.

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Disclosures

There was no sponsorship for this study. The authors report no disclosures.

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Authors and Affiliations

  1. Department of Neurology, EA 2683, IMPRT, IFR114, Université Lille Nord de France, CHRU, Lille, France

    Adrian Degardin, Alain Destée, Luc Defebvre & David Devos

  2. Department of Pediatrics, Centre de Référence des Maladies Métaboliques, Université Lille Nord de France, CHRU, Lille, France

    Dries Dobbelaere

  3. Neurobiology Unit, Centre de Biologie Pathologie, CHRU, 59037, Lille, France

    Isabelle Vuillaume & Bernard Sablonnière

  4. IMPRT, IFR114, Université Lille Nord de France, CHRU, Lille, France

    Isabelle Vuillaume & Bernard Sablonnière

  5. Department of Neuro-ophthalmology, IFR114, Université Lille Nord de France, CHRU, Lille, France

    Sabine Defoort-Dhellemmes

  6. Department of Clinical Neurophysiology, EA 2683, IMPRT, IFR114, Université Lille Nord de France, CHRU, Lille, France

    Jean-François Hurtevent

  7. Hôpital Roger Salengro, Clinique Neurologique, CHRU, 59037, Lille Cedex, France

    Adrian Degardin

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  1. Adrian Degardin
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  2. Dries Dobbelaere
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  3. Isabelle Vuillaume
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  9. David Devos
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Correspondence to Adrian Degardin.

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Degardin, A., Dobbelaere, D., Vuillaume, I. et al. Spinocerebellar Ataxia: A Rational Approach to Aetiological Diagnosis. Cerebellum 11, 289–299 (2012). https://doi.org/10.1007/s12311-011-0310-1

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  • DOI: https://doi.org/10.1007/s12311-011-0310-1

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