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

Toshitaka Kawarai, MD1; Ryosuke Miyamoto, MD1; Yoshimitsu Shimatani, MD2; Antonio Orlacchio, MD, PhD3,4; Ryuji Kaji, MD1
[+] 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.
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This case series describes members of the same family with spinocerebellar ataxia type 16 with choreoathetosis, dystonia, and myoclonus.

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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Pedigree, Photographs, Magnetic Resonance Images, and Whole-Exome Sequencing

A, Pedigree chart showing a marriage with the fourth-degree consanguinity and 3 affected members. B and C, Posture of the 2 affected members. B, The proband (IV-3) shows left lateral shift of the neck and trunk in the supine position. C, The proband's brother (IV-5) shows athetotic posture of the hand. D, Brain magnetic resonance imaging studies of the proband (IV-3; upper panels) at 37 years of age and his younger brother (IV-4; lower panels) at 36 years of age revealing severe atrophy of the cerebellum. Enlargement of the fourth ventricle and widened cerebellar folia can be observed in T2-weighted sagittal images (left panels) and axial fluid-attenuated inversion recovery images (middle panels). The brainstem remains intact. No abnormal intensity is observed in the globus pallidus, putamen, caudate nucleus, and thalamus in axial fluid-attenuated inversion recovery magnetic resonance images (right panels). A mild enlargement of the lateral ventricles can be observed in IV-4 (right lower panel). E, Sequence of the normal STUB1 exon 6 sequence as well as the mutation detected in the proband are presented. The top sequence is of the control; middle, unaffected sister (IV-1); bottom, proband. The arrowheads indicate the missense mutation, c.724G>A (p.E242K). Arg indicates arginine, Cys, cysteine; Glu, glutamate; Lys, lysine; Met, methionine; and Phe, phenylalanine.

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Involuntary Movements Observed in Patients With STUB1-SCAR16

Segment 1, proband (IV-3) choreoathetosis and dystonic posture. Segment 2, proband’s brother (IV-5) athetotic posture of the right hand and dystonic posture of the left foot and myoclonus and tremulous movements. Segment 3, proband’s brother (IV-5) vertical ocular flutter.

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