Friedreich Ataxia: Clinical Report of an Uncommon Point Mutation (R165C)
Received Date: Jan 21, 2018 / Accepted Date: Feb 22, 2018 / Published Date: Feb 26, 2018
Introduction: Friedreich ataxia (FRDA) is the most common hereditary ataxia now. It is inherited as an autosomal recessive disease. Most of the patients are homozygotes, with an expansion of a GAA triplet in both alleles of the first intron of the frataxin gene (FXN, 9q13) (95-98% of the patients). The rest of the patients are heterozygotes with an expansion in only one allele and a point mutation in the other. These cases are more difficult to diagnose due to the low prevalence and the needed of enlarge molecular tests. Case Report: An ambulant 42-year-old man was referred to our hospital due to gait instability that had started 7 years ago. A clinical examination showed gait ataxia, areflexia, decrease vibration sense, scoliosis, and pes cavus. Results and Discussion: Laboratory tests, neuroimaging and neurophysiologic studies had been done since then without relevant findings. Somatosensory evoked potentials were also done and described a sensitive axonal neuropathy with an affectation of the posterior columns of the spinal cord. Due findings of 300-350 repetitions of GAA in one allele and the point mutation R165C in the other that confirmed the diagnosis. Conclusion: This case report highlights that, although most patients of Friedreich ataxia are usually homozygotes, there are a small number of patients that are heterozygotes and can have different phenotypes being important to identify them to give genetic counselling and detect new complications that suppose a risk for their lives.
Keywords: Friedreich’s ataxia; Heterozygotes; Point mutation; R165C
Citation: Tercero RMG, Heras JG, Urrea CD, Benitez PB, Pérez AH, et al. (2018) Friedreich Ataxia: Clinical Report of an Uncommon Point Mutation (R165C). J Neurol Disord 6: 376. Doi: 10.4172/2329-6895.1000376
Copyright: © 2018 Tercero RMG, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
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