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Broadened Friedreich's ataxia phenotype after gene cloning. Minimal GAA expansion causes late-onset spastic ataxia.
- Source :
-
Neurology [Neurology] 1997 Dec; Vol. 49 (6), pp. 1617-20. - Publication Year :
- 1997
-
Abstract
- We describe three siblings from an Italian family affected by an autosomal recessive spinocerebellar degeneration. Gait ataxia, presenting between 38 and 45 years, was the first symptom in all three patients. Dysarthria, dysmetria, brisk tendon reflexes, extensor plantar response, and scoliosis were constant features. Disease progression was slow. Electrophysiologic studies demonstrated a slight reduction in sural nerve sensory action potential in only one patient. Analysis of GAA expansion within the X25 gene showed that patients were homozygous for the expansion, with the shorter expanded allele ranging from 120 to 156 triplets. The size of the GAA expansion may be smaller than we previously described. Such minimal expansions may result in atypical forms of Friedreich's ataxia.
- Subjects :
- Action Potentials physiology
Age of Onset
Base Sequence
Evoked Potentials, Somatosensory physiology
Female
Friedreich Ataxia epidemiology
Friedreich Ataxia physiopathology
Humans
Male
Middle Aged
Muscle Spasticity epidemiology
Muscle Spasticity physiopathology
Neural Conduction physiology
Pedigree
Phenotype
Time Factors
Cloning, Molecular
Friedreich Ataxia genetics
Muscle Spasticity genetics
Subjects
Details
- Language :
- English
- ISSN :
- 0028-3878
- Volume :
- 49
- Issue :
- 6
- Database :
- MEDLINE
- Journal :
- Neurology
- Publication Type :
- Academic Journal
- Accession number :
- 9409356
- Full Text :
- https://doi.org/10.1212/wnl.49.6.1617