Article
Ataxia-without-telangiectasia. Progressive multisystem degeneration with IgE deficiency and chromosomal instability.
Journal of the neurological sciences - 1 Jan 2000
Byrne E, Hallpike J F, Manson J I, Sutherland G R, Thong Y H
Abstract excerpt
Three of five siblings developed a progressive neurological disorder during infancy or early childhood characterized by cerebellar ataxia, choreoathetosis and peripheral neuropathy. Immunological studies revealed a marked selective deficiency of serum IgE in all three affected siblings. There was evidence of chromosomal instability in the three affected siblings and in one of the parents. One of the affected...
Topics
- Adolescent
- Adult
- Ataxia Telangiectasia
- Cerebellar Ataxia
- Chromosome Banding
- Chromosome Mapping
- Dysgammaglobulinemia
- Female
- Humans
- Immunoglobulin E
- Leukemia, Lymphoid