Article
Early onset cerebellar ataxia and preservation of tendon reflexes: clinical phenotypes associated with GAA trinucleotide repeat expanded and non-expanded genotypes.
Journal of the peripheral nervous system : JPNS - 1 Jan 1999
De Castro M, Cruz-Martínez A, Vílchez J J, Sevilla T, Pineda M, Berciano J, Palau F
Abstract excerpt
The aim of this study was to determine phenotypie characteristics of patients with early onset cerebellar ataxia (EOCA) with preserved tendon reflexes. The series comprises 25 patients, representing 10% of all ataxic patients who have been genetically studied in our laboratory since 1990. There were 11 males and 14 females. Fourteen patients were homozygous for the GAA expansion on chromosome 9q13 (group 1) and...
Topics
- Adolescent
- Adult
- Age Factors
- Age of Onset
- Child
- Child, Preschool
- Female
- Friedreich Ataxia
- Genotype
- Humans
- Iron-Binding Proteins
- Male
- Middle Aged
- Phenotype