caa a22 4500 445364807 CHVBK 20180317142926.0 cr unu---uuuuu 170323e20110501xx s 000 0 eng 10.1007/s10048-010-0271-4 doi (NATIONALLICENCE)springer-10.1007/s10048-010-0271-4 Posterior column ataxia with retinitis pigmentosa in a Japanese family with a novel mutation in FLVCR1 [Elektronische Daten] [Hiroyuki Ishiura, Yoko Fukuda, Jun Mitsui, Yasuo Nakahara, Budrul Ahsan, Yuji Takahashi, Yaeko Ichikawa, Jun Goto, Tetsuo Sakai, Shoji Tsuji] Posterior column ataxia with retinitis pigmentosa (PCARP) is an autosomal recessive neurodegenerative disorder characterized by retinitis pigmentosa and sensory ataxia. Previous studies of PCARP in two families showed a linkage to 1q31-q32. However, detailed investigations on the clinical presentations as well as molecular genetics of PCARP have been limited. Here, we describe a Japanese consanguineous family with PCARP. Two affected siblings suffered from childhood-onset retinitis pigmentosa and slowly progressive sensory ataxia. They also showed mild mental retardation, which has not been described in patients with PCARP. Parametric linkage analysis using high-density single nucleotide polymorphism arrays supported a linkage to the same locus. Target capture and high-throughput sequencing technologies revealed a novel homozygous c.1477G>C (G493R) mutation in FLVCR1, which cosegregated with the disease. A recent study has identified three independent mutations in FLVCR1 in the original and other families. Our results further confirmed that PCARP is caused by mutations in FLVCR1. Springer-Verlag, 2011 Posterior column ataxia with retinitis pigmentosa nationallicence Linkage analysis nationallicence Target capture nationallicence Massively parallel sequencing nationallicence FLVCR1 nationallicence Ishiura Hiroyuki Department of Neurology, Graduate School of Medicine, The University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, 113-8655, Tokyo, Japan aut Fukuda Yoko Department of Neurology, Graduate School of Medicine, The University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, 113-8655, Tokyo, Japan aut Mitsui Jun Department of Neurology, Graduate School of Medicine, The University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, 113-8655, Tokyo, Japan aut Nakahara Yasuo Department of Neurology, Graduate School of Medicine, The University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, 113-8655, Tokyo, Japan aut Ahsan Budrul Department of Neurology, Graduate School of Medicine, The University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, 113-8655, Tokyo, Japan aut Takahashi Yuji Department of Neurology, Graduate School of Medicine, The University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, 113-8655, Tokyo, Japan aut Ichikawa Yaeko Department of Neurology, Graduate School of Medicine, The University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, 113-8655, Tokyo, Japan aut Goto Jun Department of Neurology, Graduate School of Medicine, The University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, 113-8655, Tokyo, Japan aut Sakai Tetsuo Department of Neurology, Himeno Hospital, 2316 Niishiro, Hirokawa Town, Yame County, 834-0115, Fukuoka, Japan aut Tsuji Shoji Department of Neurology, Graduate School of Medicine, The University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, 113-8655, Tokyo, Japan aut neurogenetics Springer-Verlag 12/2(2011-05-01), 117-121 1364-6745 12:2<117 2011 12 10048 https://doi.org/10.1007/s10048-010-0271-4 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s10048-010-0271-4 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Ishiura Hiroyuki Department of Neurology, Graduate School of Medicine, The University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, 113-8655, Tokyo, Japan aut NATIONALLICENCE 700 1- Fukuda Yoko Department of Neurology, Graduate School of Medicine, The University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, 113-8655, Tokyo, Japan aut NATIONALLICENCE 700 1- Mitsui Jun Department of Neurology, Graduate School of Medicine, The University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, 113-8655, Tokyo, Japan aut NATIONALLICENCE 700 1- Nakahara Yasuo Department of Neurology, Graduate School of Medicine, The University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, 113-8655, Tokyo, Japan aut NATIONALLICENCE 700 1- Ahsan Budrul Department of Neurology, Graduate School of Medicine, The University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, 113-8655, Tokyo, Japan aut NATIONALLICENCE 700 1- Takahashi Yuji Department of Neurology, Graduate School of Medicine, The University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, 113-8655, Tokyo, Japan aut NATIONALLICENCE 700 1- Ichikawa Yaeko Department of Neurology, Graduate School of Medicine, The University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, 113-8655, Tokyo, Japan aut NATIONALLICENCE 700 1- Goto Jun Department of Neurology, Graduate School of Medicine, The University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, 113-8655, Tokyo, Japan aut NATIONALLICENCE 700 1- Sakai Tetsuo Department of Neurology, Himeno Hospital, 2316 Niishiro, Hirokawa Town, Yame County, 834-0115, Fukuoka, Japan aut NATIONALLICENCE 700 1- Tsuji Shoji Department of Neurology, Graduate School of Medicine, The University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, 113-8655, Tokyo, Japan aut NATIONALLICENCE 773 0- neurogenetics Springer-Verlag 12/2(2011-05-01), 117-121 1364-6745 12:2<117 2011 12 10048 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer