Article
Clinical, cytogenetic and immunological aspects in 4 cases resembling ataxia telangiectasia.
European neurology - 1 Jan 1992
Lanzi G, Balottin U, Franciotta D, Maserati E, Ottolini A, Pasquali F, Veggiotti P
Abstract excerpt
Four cases resembling ataxia telangiectasia, all characterized by the absence of telangiectasias, are presented. Two are sisters while the other 2 are sporadic cases. The 2 sisters, aged 14 and 12 years, present a progressive neurological disease similar to that characterizing the Louis-Bar syndr...
Topics
- Adolescent
- Ataxia Telangiectasia
- Athetosis
- Child
- Chorea
- Chromosome Aberrations
- Chromosome Disorders
- Chromosomes, Human, Pair 14
- Chromosomes, Human, Pair 7
- Female
- Follow-Up Studies
- Genes, Recessive
- Humans
- Immunoglobulin A
- Immunoglobulin E
- Intellectual Disability
- Leukocyte Count
- Lymphocyte Activation