Downbeat nystagmus as an initial clinical sign in spinocerebellar ataxia type 6

Downbeat nystagmus as an initial clinical sign in spinocerebellar ataxia type 6 Neurol Sci (2017) 38:1543–1545 DOI 10.1007/s10072-017-2973-y LETTER TO THE EDITOR Downbeat nystagmus as an initial clinical sign in spinocerebellar ataxia type 6 1 2 1 1 Tatsuya Ueno & Hisanori Nishizawa & Chieko Suzuki & Jin-ichi Nunomura & Masahiko Tomiyama Received: 13 January 2017 /Accepted: 19 April 2017 /Published online: 29 April 2017 Springer-Verlag Italia 2017 Dear Editor, revealed isolated DBN, but no cerebellar ataxia and dysar- Spinocerebellar ataxia type 6 (SCA6) is characterized clinical- thria. The DBN amplitude increased during lateral gaze. ly by progressive cerebellar ataxia with cerebellar atrophy, Smooth pursuit and saccade were normal. She had no other dysarthria, and oculomotor disturbance, and genetically by cranial nerve disturbance, sensory disturbance, or limb weak- CAG repeat expansion in the α -voltage-dependent calcium ness, and her deep tendon reflex and gait were normal. As she 1A channel gene (CACNA1A) on chromosome 19p13 [1]. SCA6 had only isolated DBN without cerebellar ataxia and no family accounts for 15% of all cases of SCAs worldwide [1]. history of SCA, we initially considered her illness as cerebel- Downbeat nystagmus (DBN) is defined as a vertical sponta- lar tumor, Arnold–Chiari malformation, cerebrovascular dis- neous nystagmus, marked by downward fast phases [2], and Neurological Sciences Springer Journals

Downbeat nystagmus as an initial clinical sign in spinocerebellar ataxia type 6

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Springer Milan
Copyright © 2017 by Springer-Verlag Italia
Medicine & Public Health; Neurology; Neuroradiology; Neurosurgery; Psychiatry
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