Clinical and genetic correlate in childhood onset Friedreich ataxia
| Autor: | H. Topaloǧlu, M. Alikaşifoǧlu, N. Ceviz, B. Anar, E. Tunçbilek, E. Demir, Ş. Özme |
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| Rok vydání: | 1999 |
| Předmět: |
Male
Weakness medicine.medical_specialty Ataxia Adolescent Cardiomyopathy Action Potentials Gastroenterology Polymerase Chain Reaction Consanguinity Internal medicine medicine Humans Allele Child Molecular Biology Early onset business.industry General Medicine medicine.disease medicine.anatomical_structure Echocardiography Friedreich Ataxia Child Preschool Pediatrics Perinatology and Child Health Female Neurology (clinical) medicine.symptom business Cardiomyopathies Trinucleotide Repeat Expansion Sensory nerve |
| Zdroj: | Neuropediatrics. 30(2) |
| ISSN: | 0174-304X |
| Popis: | We analyzed the clinical and genetic aspects of 28 FRDA patients from 20 families. 19 families were consanguineous. The onset was between 4 and 13 1/2 years of age (mean 15.4 +/- 6.2). Three patients presented with cardiomyopathy, one with weakness, and the rest with ataxia. There were two patients with preserved lower-limb deep tendon reflexes. Sensory nerve action potentials were reduced in 14/14 patients. Cardiac echograms were abnormal in 17/19 cases, and this was between 6 and 16 years of age (mean 10.1 +/- 3.5). Four families were multiplex. Clinical intra-familial variability was observed. Increased GAA repeats of the X25 gene were found in 27/28 patients studied, all in a homozygous state. 88.9% of patients had a smaller allele larger than 500 repeats, and 66.7% had more than 700 repeats. The patient who did not have increased GAA repeats in both alleles had peculiar findings. Significant correlation of expansion was obtained for the early onset, and cardiomyopathy as the onset. |
| Databáze: | OpenAIRE |
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