Clinical and Neuropathological Features of Spastic Ataxia in a Spanish Family with Novel Compound Heterozygous Mutations in STUB1
| Autor: | Orr Shomroni, Marianna R. Bevova, Peter Heutink, María-Jesús Sobrido, Shu-Bing Qian, Conceição Bettencourt, I. Bakker, Marianna Bugiani, Justo García de Yébenes, Xingqian Zhang, Sasja Heetveld, Raquel Ros, Jose Lopez-Sendon, Shushant Jain, Patrizia Rizzu, Beatriz Quintáns |
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| Přispěvatelé: | Human genetics, Pathology, Pediatric surgery, NCA - Brain mechanisms in health and disease |
| Jazyk: | angličtina |
| Rok vydání: | 2015 |
| Předmět: |
Adult
Male Heterozygote medicine.medical_specialty Ataxia Neurology physiopathology [Intellectual Disability] Ubiquitin-Protein Ligases physiopathology [Spinocerebellar Ataxias] diagnosis [Muscle Spasticity] genetics [Muscle Spasticity] Biology Compound heterozygosity Genetic analysis genetics [Optic Atrophy] Diagnosis Differential Intellectual Disability medicine Humans Spinocerebellar Ataxias diagnosis [Spinocerebellar Ataxias] Family ddc:610 genetics [Spinocerebellar Ataxias] Gene STUB1 protein human genetics [Ubiquitin-Protein Ligases] STUB1 Genetics physiopathology [Muscle Spasticity] Genetic heterogeneity diagnosis [Optic Atrophy] Pedigree Optic Atrophy diagnosis [Intellectual Disability] Muscle Spasticity Mutation Female Neurology (clinical) genetics [Intellectual Disability] Spastic ataxia medicine.symptom physiopathology [Optic Atrophy] |
| Zdroj: | Cerebellum, 14(3), 378-81. SPRINGER Cerebellum, 14(3), 378-381. Springer New York The Cerebellum 14(3), 378-381 (2015). doi:10.1007/s12311-014-0643-7 Bettencourt, C, Yebenes, J G, Lopez-Sendon, J L, Shomroni, O, Zhang, X Q, Qian, S B, Bakker, I M C, Heetveld, S, Ros, R, Quintans, B, Sobrido, M J, Bevova, M R, Jain, S, Bugiani, M, Heutink, P & Rizzu, P 2015, ' Clinical and Neuropathological Features of Spastic Ataxia in a Spanish Family with Novel Compound Heterozygous Mutations in STUB1 ', Cerebellum, vol. 14, no. 3, pp. 378-381 . https://doi.org/10.1007/s12311-014-0643-7 |
| ISSN: | 1473-4222 |
| DOI: | 10.1007/s12311-014-0643-7 |
| Popis: | Hereditary ataxias are clinically and genetically heterogeneous neurodegenerative disorders. Although many ataxia genes have been identified, about 50 % of cases await the identification of the genetic cause [1]. High-throughput sequencing, namely whole-exome sequencing (WES), has changed the paradigm of genetic analysis of rare heterogeneous Mendelian disorders [2], and allowed the identification of STUB1 mutations as the cause of autosomal recessive ataxia syndromes [3–7]. We report on clinical and pathological features of a family with spastic ataxia due to novel STUB1 |
| Databáze: | OpenAIRE |
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