Friedreich ataxia with minimal GAA expansion presenting as adult-onset spastic ataxia
- 1 February 2002
- journal article
- case report
- Published by Elsevier in Journal of the Neurological Sciences
- Vol. 194 (1) , 75-82
- https://doi.org/10.1016/s0022-510x(01)00681-5
Abstract
No abstract availableKeywords
This publication has 43 references indexed in Scilit:
- Friedreich ataxia: an overviewJournal of Medical Genetics, 2000
- Friedreich's ataxia: Point mutations and clinical presentation of compound heterozygotesAnnals of Neurology, 1999
- Clinical and Genetic Abnormalities in Patients with Friedreich's AtaxiaNew England Journal of Medicine, 1996
- Friedreich's Ataxia: Autosomal Recessive Disease Caused by an Intronic GAA Triplet Repeat ExpansionScience, 1996
- Friedreich's ataxia with retained tendon reflexesNeurology, 1996
- Early‐onset ataxia with cardiomyopathy and retained tendon reflexes maps to the friedreich's ataxia locus on chromosome 9qAnnals of Neurology, 1995
- Late onset Friedreich's disease: clinical features and mapping of mutation to the FRDA locus.Journal of Neurology, Neurosurgery & Psychiatry, 1994
- HEREDITARY ATAXIAS AND PARAPLEGIAS IN CANTABRIA, SPAINBrain, 1991
- Mapping of mutation causing Friedreich's ataxia to human chromosome 9Nature, 1988
- FRIEDREICH'S ATAXIA: A CLINICAL AND GENETIC STUDY OF 90 FAMILIES WITH AN ANALYSIS OF EARLY DIAGNOSTIC CRITERIA AND INTRAFAMILIAL CLUSTERING OF CLINICAL FEATURESBrain, 1981