Clinical and genetic correlate in childhood onset Friedreich ataxia

Alikasifoglu M., Topaloglu H., Tuncbilek E., Ceviz N., Anar B., Demir E., ...Daha Fazla

NEUROPEDIATRICS, cilt.30, sa.2, ss.72-76, 1999 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 30 Sayı: 2
  • Basım Tarihi: 1999
  • Doi Numarası: 10.1055/s-2007-973463
  • Dergi Adı: NEUROPEDIATRICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.72-76
  • Anahtar Kelimeler: Friedreich ataxia, childhood onset, frataxin gene, GAA repeat expansion, GAA TRIPLET REPEAT, TRINUCLEOTIDE REPEAT, EXPANSION, DISEASE, PHENOTYPE, FRATAXIN, FEATURES, DEFICIENCY, MUTATION
  • Gazi Üniversitesi Adresli: Hayır

Özet

We analyzed the clinical and genetic aspects of 28 FRDA patients from 20 families. 19 families were consanguineous. The onset was between 4 and 131/2 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 CAA repeats in both alleles had peculiar findings. Significant correlation of expansion was obtained for the early onset, and cardiomyopathy as the onset.