Clinical and genetic study of a family with spinocerebellar ataxia type 1 (SCA1) and beta-thalassemia View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

1998-12

AUTHORS

V. Pietrini, M. Godani, S. Calzetti, A. Negrotti, B. Castellotti, M. C. Riggio, C. Toffoli

ABSTRACT

We report a family affected by autosomal dominant ataxia, in which numerous members also showed microcytosis. Genetic analysis demonstrated a CAG expansion in the SCA1 locus in five members, while all subjects with microcytosis revealed a C-T substitution at codon 39 of the beta-globin gene. A pure cerebellar syndrome with prominent gait ataxia characterized the first stages of the neurological disease. The fully developed disease included additional clinical findings such as dysarthria and dysphagia, and instrumental signs of axonal involvement of the peripheral nerves. Ophthalmoplegia was not observed. The coexistence of hereditary spinocerebellar degeneration and erythropathies or hemoglobinopathies has been previously described. We discuss the possible linkages between these two pathologies. More... »

PAGES

345-350

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/bf02341780

DOI

http://dx.doi.org/10.1007/bf02341780

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1015249463

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/10935828


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