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July 2016

Choreoathetosis, Dystonia, and Myoclonus in 3 Siblings With Autosomal Recessive Spinocerebellar Ataxia Type 16

Author Affiliations
  • 1Department of Clinical Neuroscience, Institute of Biomedical Sciences, Tokushima University Graduate School, Tokushima, Japan
  • 2Department of Neurology, Tokushima Prefectural Central Hospital, Tokushima, Japan
  • 3Laboratorio di Neurogenetica, CERC-IRCCS Santa Lucia, Rome, Italy
  • 4Dipartimento di Scienze Chirurgiche e Biomediche, Università di Perugia, Perugia, Italy
JAMA Neurol. 2016;73(7):888-890. doi:10.1001/jamaneurol.2016.0647

Extracerebellar symptoms may be seen in most cases of both autosomal dominant and recessive cerebellar ataxias, being characterized by multisystem involvement.1 Autosomal recessive spinocerebellar ataxia type 16 (SCAR16) is an adolescent-onset ataxia with cerebellar atrophy, occasionally accompanied by cognitive decline, spasticity, hypogonadism, and movement disorders.2 In 2013, the STIP1 homologous and U Box–containing protein 1 gene (STUB1; 16p13.3; OMIM: *607207), was identified as a novel causative gene for SCAR16, which encodes the C-terminus of the heat shock protein 70–interacting protein,3 which has a biological role in regulating protein quality control.4 We report 3 sibling cases with SCAR16 with choreoathetosis, dystonia, and myoclonus.

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