Late-onset spastic paraplegia type 10 (SPG10) family presenting with bulbar symptoms and fasciculations mimicking amyotrophic lateral sclerosis
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- 作者：Seiji Kajia ; b ; 1 ; seiji-kaji@hotmail.co.jp" class="auth_mail" title="E-mail the corresponding author ; Toshitaka Kawaraia ; 1 ; tkawarai@tokushima-u.ac.jp" class="auth_mail" title="E-mail the corresponding author ; Ryosuke Miyamotoa ; ninigii@gmail.com" class="auth_mail" title="E-mail the corresponding author ; Hiroyuki Noderaa ; hnodera@tokushima-u.ac.jp" class="auth_mail" title="E-mail the corresponding author ; Lucia Pedacec ; l.pedace@hsantalucia.it" class="auth_mail" title="E-mail the corresponding author ; Antonio Orlacchioc ; d ; a.orlacchio@hsantalucia.it" class="auth_mail" title="E-mail the corresponding author ; Yuishin Izumia ; yizumi@tokushima-u.ac.jp" class="auth_mail" title="E-mail the corresponding author ; Ryosuke Takahashia ; ryosuket@kuhp.kyoto-u.ac.jp" class="auth_mail" title="E-mail the corresponding author ; Ryuji Kajia ; rkaji@tokushima-u.ac.jp" class="auth_mail" title="E-mail the corresponding author
- 关键词：HSP ; hereditary spastic paraplegia ; SPG10 ; spastic paraplegia type 10 ; KIF5A ; kinesin family member 5A ; ALS ; amyotrophic lateral sclerosis
- 刊名：Journal of the Neurological Sciences
- 出版年：2016
- 出版时间：15 May 2016
- 年：2016
- 卷：364
- 期：Complete
- 页码：45-49
- 全文大小：333 K
文摘
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This report describes the first known Asian KIF5A-SPG10 family.
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A missense mutation p.Arg162Trp was identified, which previously reported from Italy.
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Two elderly asymptomatic carriers were demonstrated.
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Fasciculations were electrophysiologically proven in the 2 patients.
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Distribution of fasciculations would differ from those in ALS.