Novel mutations in spastin gene and absence of correlation with age at onset of symptoms
| Autor: | Yi Yang, Teepu Siddique, Wu Yen Hung, Rose-Mary Boustany, Raymond P. Roos, Hong Zhai, Afif Hentati, Rup Tandan, F. Hentati, Nigel G. Laing, Anser C. Azim, Saeed Bohlega, W. Chen, Franca Cambi, Han Xiang Deng, Hiroshi Mitsumoto, M. Ben Hamida, C. L. Warner |
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| Předmět: |
Adult
Male Spastin Tunisia Adolescent Hereditary spastic paraplegia Mutant Locus (genetics) Genetic linkage medicine Humans Spasticity Age of Onset Gene Aged Genetics Adenosine Triphosphatases business.industry Genetic heterogeneity Spastic Paraplegia Hereditary Calcium-Binding Proteins Middle Aged medicine.disease nervous system diseases Mutation North America Female Neurology (clinical) medicine.symptom business Neuroscience |
| Zdroj: | University of Western Australia Scopus-Elsevier |
| Popis: | Article abstract Autosomal dominant hereditary spastic paraplegia is genetically heterogeneous, with at least five loci identified by linkage analysis. Recently, mutations in spastin were identified in SPG4 , the most common locus for dominant hereditary spastic paraplegia that was previously mapped to chromosome 2p22. We identified five novel mutations in the spastin gene in five families with SPG4 mutations from North America and Tunisia and showed the absence of correlation between the predicted mutant spastin protein and age at onset of symptoms. |
| Databáze: | OpenAIRE |
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