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Mol Med Rep. 2014 Sep;10(3):1423-5. doi: 10.3892/mmr.2014.2342. Epub 2014 Jun 17.

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

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School of Public Health, Fudan University, Shanghai 200032, P.R. China.
Department of Oncology, The First Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou, Zhejiang 310003, P.R. China.
Department of Cardiothoracic Surgery, Zhejiang Provincial People's Hospital, Hangzhou, Zhejiang 310014, P.R. China.
Department of Clinical Medicine, School of Medicine, Zhejiang University, Hangzhou, Zhejiang 310012, P.R. China.
Department of Family Medicine, Sir Run Run Shaw Hospital, School of Medicine, Zhejiang University, Hangzhou, Zhejiang 310016, P.R. China.


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.

[Indexed for MEDLINE]

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