Heterozygous Deletion of KLHL1/ATX8OS at the SCA8 Locus Is Unlikely Associated With Cerebellar Impairment in Humans

Cerebellum. 2016 Apr;15(2):208-12. doi: 10.1007/s12311-015-0679-3.

Giorgia Mandrile^{1

2}, Eleonora Di Gregorio^{3

4}, Himanshu Goel⁵, Daniela Giachino^{1

2}, Stefania De Mercanti^{2

6}, Marco Iudicello⁶, Marco Rolando⁷, Sabrina Losa⁷, Mario De Marchi^{1

2}, Alfredo Brusco^{8

9}

¹ Medical Genetics, San Luigi Gonzaga University Hospital, Orbassano, 10043, Italy.
² Department of Clinical and Biological Sciences, University of Torino, Orbassano, 10043, Italy.
³ Department of Medical Sciences, University of Torino, via Santena 19, Torino, 10126, Italy.
⁴ Medical Genetics, Città della Salute e della Scienza di Torino University Hospital, Torino, 10126, Italy.
⁵ Faculty of Health and Medicine, Callaghan and Hunter Genetics, University of Newcastle, Waratah, NSW2308, Australia.
⁶ Neurology Division, San Luigi Gonzaga University Hospital, Orbassano, 10043, Italy.
⁷ Azienda Sanitaria Locale TO3 di Collegno e Pinerolo, Neuropsichiatria Infantile, Collegno, 10093, Italy.
⁸ Department of Medical Sciences, University of Torino, via Santena 19, Torino, 10126, Italy. alfredo.brusco@unito.it.
⁹ Medical Genetics, Città della Salute e della Scienza di Torino University Hospital, Torino, 10126, Italy. alfredo.brusco@unito.it.

No abstract available

Keywords: ATXNOS8; Ataxia; Genomic deletion; KLHL1; SCA8.

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