期刊
MOLECULAR MEDICINE REPORTS
卷 10, 期 3, 页码 1423-1425出版社
SPANDIDOS PUBL LTD
DOI: 10.3892/mmr.2014.2342
关键词
pontocerebellar hypoplasia; TSEN54 mutation; hereditary ataxia
资金
- Health Bureau of Zhejiang Province, China [2012KYA108]
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.
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