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

JAMA Neurol. 2016 Jul 1;73(7):888-90. doi: 10.1001/jamaneurol.2016.0647.

Authors

Toshitaka Kawarai¹, Ryosuke Miyamoto¹, Yoshimitsu Shimatani², Antonio Orlacchio³, Ryuji Kaji¹

Affiliations

¹ Department of Clinical Neuroscience, Institute of Biomedical Sciences, Tokushima University Graduate School, Tokushima, Japan.
² Department of Neurology, Tokushima Prefectural Central Hospital, Tokushima, Japan.
³ Laboratorio di Neurogenetica, CERC-IRCCS Santa Lucia, Rome, Italy4Dipartimento di Scienze Chirurgiche e Biomediche, Università di Perugia, Perugia, Italy.

PMID: 27182963
DOI: 10.1001/jamaneurol.2016.0647

No abstract available

Publication types

Research Support, Non-U.S. Gov't
Video-Audio Media

MeSH terms

Adult
Brain / diagnostic imaging*
Dystonia / complications*
Dystonia / diagnostic imaging
Dystonia / genetics
Female
Humans
Magnetic Resonance Imaging
Male
Middle Aged
Mutation / genetics
Myoclonus / complications*
Myoclonus / diagnostic imaging
Myoclonus / genetics
Siblings*
Spinocerebellar Ataxias / complications*
Spinocerebellar Ataxias / diagnostic imaging
Spinocerebellar Ataxias / genetics
Tomography, Emission-Computed, Single-Photon
Ubiquitin-Protein Ligases / genetics

Substances

STUB1 protein, human
Ubiquitin-Protein Ligases