title: A familial late‑onset hereditary ataxia mimicking pontocerebellar hypoplasia caused by a novel TSEN54 mutation.
abstract: 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.
authors.affiliation: School of Public Health, Fudan University, Shanghai 200032, P.R. China.
authors.forename: Yi
authors.initials: Y
authors.lastname: Qian
authors.affiliation: Department of Oncology, The First Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou, Zhejiang 310003, P.R. China.
authors.forename: Haiyong
authors.initials: H
authors.lastname: Wang
authors.affiliation: Department of Cardiothoracic Surgery, Zhejiang Provincial People's Hospital, Hangzhou, Zhejiang 310014, P.R. China.
authors.forename: Tao
authors.initials: T
authors.lastname: Jin
authors.affiliation: Department of Clinical Medicine, School of Medicine, Zhejiang University, Hangzhou, Zhejiang 310012, P.R. China.
authors.forename: Yiqing
authors.initials: Y
authors.lastname: Wang
authors.affiliation: Department of Family Medicine, Sir Run Run Shaw Hospital, School of Medicine, Zhejiang University, Hangzhou, Zhejiang 310016, P.R. China.
authors.forename: Lizheng
authors.initials: L
authors.lastname: Fang
authors.affiliation: Department of Family Medicine, Sir Run Run Shaw Hospital, School of Medicine, Zhejiang University, Hangzhou, Zhejiang 310016, P.R. China.
authors.forename: Yuhao
authors.initials: Y
authors.lastname: Chen
authors.affiliation: Department of Family Medicine, Sir Run Run Shaw Hospital, School of Medicine, Zhejiang University, Hangzhou, Zhejiang 310016, P.R. China.
authors.forename: Liying
authors.initials: L
authors.lastname: Chen
mesh_terms: D000328:Adult; D000368:Aged; D002526:Cerebellar Diseases / Q000235:genetics / Q000473:pathology; D004722:Endoribonucleases / Q000235:genetics*; D005260:Female; D023281:Genomics; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D010375:Pedigree; D017422:Sequence Analysis, DNA; D013132:Spinocerebellar Degenerations / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology
chemical_list: D004722:Endoribonucleases; C559616:TSEN54 protein, human