Prominent Spasticity and Hyperreflexia of the Legs in a Nepalese Patient with Friedreich Ataxia

• Published in: Internal Medicine 2019/10/01, Vol.58(19), pp.2865-2869
• Main Authors: Naruse, Hiroya, Takahashi, Yuji, Ishiura, Hiroyuki, Matsukawa, Takashi, Mitsui, Jun, Ichikawa, Yaeko, Hamada, Masashi, Shimizu, Jun, Goto, Jun, Toda, Tatsushi, Tsuji, Shoji
• Format: Article
• Language: English
• Subjects: Adolescent; Age; Alleles; Ataxia; Case Report; DNA Mutational Analysis; Extremities; Frataxin; Friedreich ataxia; Friedreich Ataxia - complications; Friedreich Ataxia - genetics; Friedreich Ataxia - physiopathology; Friedreich ataxia with retained reflexes (FARR); Friedreich's ataxia; haplotype analysis; Haplotypes; Humans; Internal medicine; Iron-Binding Proteins - genetics; Iron-Binding Proteins - metabolism; Leg; Male; Muscle Spasticity - etiology; Muscle Spasticity - genetics; Muscle Spasticity - physiopathology; Mutation; Nepal; Nepalese; Patients; Reflex, Abnormal - physiology; Reflexes; Spasticity; Trinucleotide Repeat Expansion
• ISSN: 0918-2918; 1349-7235
• DOI: 10.2169/internalmedicine.2953-19

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.