A familial late-onset hereditary ataxia mimicking pontocerebellar hypoplasia caused by a novel TSEN54 mutation

作者：Qian, Yi; Wang, Haiyong; Jin, Tao; Wang, Yiqing; Fang, Lizheng; Chen, Yuhao; Chen, Liying^*

来源：Molecular Medicine Reports, 2014, 10(3): 1423-1425.

DOI：10.3892/mmr.2014.2342

• pontocerebellar hypoplasia
• TSEN54 mutation
• hereditary ataxia

Pontocerebellar hypoplasia (PCH) comprises a rare group of neurodegenerative disorders with variable symptoms of cerebellar ataxia. Several gene mutations have been reported to be associated with different presentations of PCH. In the present study, an extended familial case of late-onset hereditary ataxia mimicking PCH in respect of clinical manifestation, neuroradiological findings and genetic analysis is described. By means of direct sequencing, a novel heterozygous mutation was found in the TSEN54 gene by c.254A > T(+) (p.E85V), which may be a new subtype of hereditary ataxia. However, this subtype was shown to exhibit late onset, differing from PCH with prenatal onset and predominantly affecting the growth of neurons.

• 出版日期2014-9
• 单位浙江省人民医院; 浙江大学; 复旦大学