Prominent Spasticity and Hyperreflexia of the Legs in a Nepalese Patient with Friedreich Ataxia.
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ABSTRACT:
SUBMITTER: Naruse H
PROVIDER: S-EPMC6815894 | biostudies-literature | 2019 Oct
REPOSITORIES: biostudies-literature
Publications
Prominent Spasticity and Hyperreflexia of the Legs in a Nepalese Patient with Friedreich Ataxia.
Naruse Hiroya H Takahashi Yuji Y Ishiura Hiroyuki H Matsukawa Takashi T Mitsui Jun J Ichikawa Yaeko Y Hamada Masashi M Shimizu Jun J Goto Jun J Toda Tatsushi T Tsuji Shoji S
Internal medicine (Tokyo, Japan) 20190607 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 F ...[more]
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