Yue Luo
Current Organizations / Institutes
The organizations/institutes from the scholar's latest article
Research Subjects
Yue Luo has a total of 10 co-authors. Here are the top co-authors by number of shared publications:
- Daniel H. Park
International Collaborative Research Administration, Juntendo University, Tokyo, Japan
1 shared publication - Hiroyo Yoshino
Research Institute for Diseases of Old Age, Graduate School of Medicine, Juntendo University
1 shared publication - Kazuaki Kanai
Department of Neurology, Chiba University Graduate School of Medicine, Chiba, Japan
1 shared publication - Manabu Funayama
Department of Neurology, Faculty of Medicine, Juntendo University, Tokyo, Japan
1 shared publication - Mayu Ishiguro
Department of Neurology, Faculty of Medicine, Juntendo University, Tokyo, Japan
1 shared publication - Monami Osawa
Department of Neurology, Faculty of Medicine, Juntendo University, Tokyo, Japan
1 shared publication
Latest Publications
- Open Access
- 1 August 2026
- Published by Wolters Kluwer Health in Neurology Genetics
- Vol. 12 (4) , e200404
Expanding the Spectrum of BCAP31 -Associated Diseases
Hemizygous variants in B-cell receptor–associated protein 31 (BCAP31) can cause deafness, dystonia, and cerebral hypomyelination syndrome, which typically presents in infancy. We performed whole-exome sequencing in a family with 2 affected individuals who exhibited congenital hearing loss and adult-onset motor symptoms, including Parkinson disease (PD) and cerebellar ataxia. To assess the frequency of BCAP31 variants, we analyzed 234 Japanese individuals with either recessively inherited familial PD or early-onset PD using Sanger sequencing. Whole-exome sequencing identified a novel BCAP31 variant (c.302G>A; p.Arg101Lys) shared by both individuals. The proband developed parkinsonism in early adulthood; responded well to levodopa; and later exhibited wearing-off phenomena, dyskinesias, and cerebellar signs. Sanger sequencing of a Japanese population with PD identified 3 additional BCAP31 variants; however, all 3 variants were predicted to be benign and showed no enrichment compared with public databases. This report links a BCAP31 variant to adult-onset PD. Our findings suggest that BCAP31 should be considered in male patients with early-onset PD and atypical features such as congenital deafness and cerebellar involvement.
- 1 August 2026
- Published by Wolters Kluwer Health in Neurology Genetics
- Vol. 12 (4) , e200404
Open AccessExpanding the Spectrum of BCAP31 -Associated Diseases
Hemizygous variants in B-cell receptor–associated protein 31 (BCAP31) can cause deafness, dystonia, and cerebral hypomyelination syndrome, which typically presents in infancy. We performed whole-exome sequencing in a family with 2 affected individuals who exhibited congenital hearing loss and adult-onset motor symptoms, including Parkinson disease (PD) and cerebellar ataxia. To assess the frequency of BCAP31 variants, we analyzed 234 Japanese individuals with either recessively inherited familial PD or early-onset PD using Sanger sequencing. Whole-exome sequencing identified a novel BCAP31 variant (c.302G>A; p.Arg101Lys) shared by both individuals. The proband developed parkinsonism in early adulthood; responded well to levodopa; and later exhibited wearing-off phenomena, dyskinesias, and cerebellar signs. Sanger sequencing of a Japanese population with PD identified 3 additional BCAP31 variants; however, all 3 variants were predicted to be benign and showed no enrichment compared with public databases. This report links a BCAP31 variant to adult-onset PD. Our findings suggest that BCAP31 should be considered in male patients with early-onset PD and atypical features such as congenital deafness and cerebellar involvement.