Fragile X-associated tremor/ataxia syndrome: An under-recognised cause of tremor and ataxia
详细信息 查看全文
- 作者：Sarah Kalusa ; sarahkalus@gmail.com" class="auth_mail" title="E-mail the corresponding author ; John Kingb ; Elaine Luia ; c ; Frank Gaillarda ; c
- 关键词：Ataxia ; FMR1 ; Fragile X-associated tremor/ataxia syndrome ; Fragile X syndrome ; Middle cerebellar peduncle sign ; Tremor
- 刊名：Journal of Clinical Neuroscience
- 出版年：2016
- 出版时间：January 2016
- 年：2016
- 卷：23
- 期：Complete
- 页码：162-164
- 全文大小：810 K
文摘
- •
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a degenerative movement disorder.
- •
FXTAS results from a fragile X “premutation”.
- •
The classic phenotype is kinetic tremor and cerebellar ataxia.
- •
Revised FXTAS diagnostic criteria include two major radiological features.
- •
The “MCP sign” has long been considered the radiological hallmark of FXTAS.
- •
Corpus callosum splenium T2 hyperintensity is as prevalent as the MCP sign.