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• W2207261760 abstract "Spinocerebellar ataxias (SCA) are a genetically heterogeneous, autosomal dominant group of neurological disorders consisting of slowly progressive gait and limb ataxia, imbalance, and dysarthria. Of the SCA subtypes identified, spinocerebellar ataxia type 28 (SCA28) is one of 11 subtypes not caused by repeat expansions [ [1] Smets K. Feconinck T. Baets J. Sieben A. Martin J.-J. Smouts I. Wang S. Taroni F. Di Bella D. Van Hecke W. Parizel P.M. Jadoul C. De Potter R. Couvreur F. Rugarli E. De Jonghe P. Partial deletion of AFG3L2 causing spinocerebellar ataxia type 28. Neurology. 2014; 82: 2092-2100 Crossref PubMed Scopus (21) Google Scholar ]. SCA28 is due to heterozygous missense mutations in the ATPase family gene 3-like 2 (AFG3L2) gene with at least 13 mutations to date [ 2 Löbbe AM, Kang J-S, Hilker R, Hackstein H, Müller U, Nolte D. A novel missense mutation in AFG3L2 associated with late onset and slow progression of spinocerebellar ataxia type 28. J. Mol. Neurosci. 2014;52(4):493–496. Google Scholar , 3 Mariotti C. Brusco A. Di Bella D. Cagnoli C. Seri M. Gellera C. Di Donato S. Taroni F. Spinocerebellar ataxia type 28: a novel autosomal dominant cerebellar ataxia characterized by slow progression and opthalmoparesis. Cerebellum. 2008; 7: 184-188 Crossref PubMed Scopus (49) Google Scholar , 4 Brussino A, Brusco, A, Dürr A. Spinocerebellar ataxia type 28. In: Pagon RA, Adam MP, et al. (eds) GeneReviews™ [Internet] 2011, updated 2013. University of Washington, Seattle. http://www.ncbi.nlm.nih.gov/books/NBK54582/. Google Scholar ]. AFG3L2 is located on chromosome 18p11.22-q11.2, contains 17 exons, and codes for a subunit of m-AAA protease located on the inner mitochondrial membrane [ 2 Löbbe AM, Kang J-S, Hilker R, Hackstein H, Müller U, Nolte D. A novel missense mutation in AFG3L2 associated with late onset and slow progression of spinocerebellar ataxia type 28. J. Mol. Neurosci. 2014;52(4):493–496. Google Scholar , 3 Mariotti C. Brusco A. Di Bella D. Cagnoli C. Seri M. Gellera C. Di Donato S. Taroni F. Spinocerebellar ataxia type 28: a novel autosomal dominant cerebellar ataxia characterized by slow progression and opthalmoparesis. Cerebellum. 2008; 7: 184-188 Crossref PubMed Scopus (49) Google Scholar , 4 Brussino A, Brusco, A, Dürr A. Spinocerebellar ataxia type 28. In: Pagon RA, Adam MP, et al. (eds) GeneReviews™ [Internet] 2011, updated 2013. University of Washington, Seattle. http://www.ncbi.nlm.nih.gov/books/NBK54582/. Google Scholar , 5 Cagnoli C. Mariotti C. Taroni F. Seri M. Brussino A. Michielotto C. Grisoli M. Di Bella D. Migone N. Gellera C. Di Donato S. Brusco A. SCA28, a novel form of autosomal dominant cerebellar ataxia on chromosome 18p11.22-q11.2. Brain. 2006; 129: 235-242 PubMed Google Scholar , 6 Myers K.A. Warman Chardon J. Huang L. Boycott K.M. Deletion of AFG3L2 associated with spinocerebellar ataxia type 28 in the context of multiple genomic anomalies. Am. J. Med. Genet. A. 2014; 164A: 3209-3212 Crossref PubMed Scopus (10) Google Scholar ]. Recent genetic findings also include cases of a frameshift mutation, a heterozygous deletion, and a partial deletion of the AFG3L2 gene." @default.
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• W2207261760 date "2015-11-01" @default.
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• W2207261760 title "A novel AFG3L2 mutation in a Somalian patient with spinocerebellar ataxia type 28" @default.
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• W2207261760 doi "https://doi.org/10.1016/j.jns.2015.10.003" @default.
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