1. Prominent Spasticity and Hyperreflexia of the Legs in a Nepalese Patient with Friedreich Ataxia.
- Author
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Naruse H, Takahashi Y, Ishiura H, Matsukawa T, Mitsui J, Ichikawa Y, Hamada M, Shimizu J, Goto J, Toda T, and Tsuji S
- Subjects
- Adolescent, Alleles, DNA Mutational Analysis, Friedreich Ataxia genetics, Friedreich Ataxia physiopathology, Haplotypes, Humans, Iron-Binding Proteins genetics, Iron-Binding Proteins metabolism, Male, Muscle Spasticity genetics, Muscle Spasticity physiopathology, Mutation, Nepal, Trinucleotide Repeat Expansion, Frataxin, Friedreich Ataxia complications, Muscle Spasticity etiology, Reflex, Abnormal physiology
- Abstract
Friedreich ataxia (FRDA) is an autosomal recessive spinocerebellar ataxia caused by mutations of FXN. Hypotonus and hyporeflexia of the lower extremities are observed in most FRDA patients. Patients with hyperreflexia, called Friedreich ataxia with retained reflexes (FARR), have also been identified. We herein report the case of a 16-year-old Nepalese boy presenting with early-onset ataxia with prominent spasticity and hyperreflexia of the legs. Mutational analyses established the diagnosis of FRDA presenting as FARR. A haplotype analysis revealed that expanded alleles of the patient shared a common haplotype with Indian and European FRDA patients, suggesting that the mutation descended from a common founder.
- Published
- 2019
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