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Triple Repeat Diseases of the Nervous Systems pp 47–77Cite as

Spinocerebellar Ataxias Caused by Polyglutamine Expansions

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Part of the book series: Advances in Experimental Medicine and Biology ((AEMB,volume 516))

Abstract

Autosomal dominant cerebellar ataxias (ADCA) constitute a group of disorders, clinically and molecularly heterogeneous. They are characterized by variable degrees of cerebellar and brainstem degeneration or dysfunction. Neuronal loss variably affects the pons, the inferior olive, the basal ganglia, the cerebellum and its afferent and efferent fibers. Onset is generally during the third or fourth decade but can also occur in childhood or in the old age. Patients usually present with progressive cerebellar ataxia and associated neurological signs, such as ophthalmoplegia, pyramidal or extrapyramidal signs, deep sensory loss and dementia. Attempts to classify subtypes of ADCA were largely unsatisfactory until AE Harding distinguished three phenotypes based on clinical associated signs.1 ADCA type I is the most common subtype and variably combines cerebellar ataxia, dysarthria, ophthalmoplegia, pyramidal and extrapyramidal signs, deep sensory loss, amyotrophy and dementia. However, several other signs and symptoms may also be associated, i.e., slow eye movements, sphincter disturbances, axonal neuropathy, fasciculation and/ or swallowing difficulties. ADCA type II was first described by Froment et al2 and is characterized by the association of progressive macular degeneration with cerebellar ataxia. Finally, ADCA type III denotes a “pure”, generally late onset, cerebellar syndrome.

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Authors and Affiliations

  1. INSERM U289, Groupe Hospitalier Pitié Salpêtriére, Paris, France

    Giovanni Stevanin, Alexandra Dürr & Alexis Brice

  2. Institut Fédératif di Recherche des Neurosciences, Groupe Hospitalier Pitié Salpêtriére, Paris, France

    Giovanni Stevanin, Alexandra Dürr & Alexis Brice

  3. Département de Génétique, Cytogénétique et Embryologie, Groupe Hospitalier Pitié Salpêtriére, Paris, France

    Alexandra Dürr & Alexis Brice

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  1. Giovanni Stevanin
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  1. Department of Medicine, Baylor College of Medicine, Houston, Texas, USA

    Lubov T. Timchenko

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Stevanin, G., Dürr, A., Brice, A. (2002). Spinocerebellar Ataxias Caused by Polyglutamine Expansions. In: Timchenko, L.T. (eds) Triple Repeat Diseases of the Nervous Systems. Advances in Experimental Medicine and Biology, vol 516. Springer, Boston, MA. https://doi.org/10.1007/978-1-4615-0117-6_3

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