Clinical and genetic study of a family with spinocerebellar ataxia type 1 SCAD and beta-thalassemia

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

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)345-350
Number of pages6
JournalItalian Journal of Neurological Sciences
Volume19
Issue number6
Publication statusPublished - 1998

Keywords

  • Beta-thalassemia
  • Cag expansion
  • SCA1

ASJC Scopus subject areas

  • Neuroscience(all)
  • Clinical Neurology
  • Psychiatry and Mental health
  • Dermatology

Fingerprint Dive into the research topics of 'Clinical and genetic study of a family with spinocerebellar ataxia type 1 SCAD and beta-thalassemia'. Together they form a unique fingerprint.

Cite this