A complex form of hereditary spastic paraplegia harboring a novel variant, p.W1515*, in the SPG11 gene
Individuals with hereditary spastic paraplegia (HSP) are known to present with a variety of symptoms, including intellectual disability, cognitive decline, parkinsonism, and epilepsy. We report here our experience of treating a family with consanguinity, including three patients with HSP-related sym...
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| Format: | Article |
| Language: | English |
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Elsevier
2022-03-01
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| Series: | eNeurologicalSci |
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S2405650221000848 |
| _version_ | 1818987221052555264 |
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| author | Kensuke Daida Yosuke Nishioka Yuanzhe Li Hiroyo Yoshino Manabu Funayama Nobutaka Hattori Kenya Nishioka |
| author_facet | Kensuke Daida Yosuke Nishioka Yuanzhe Li Hiroyo Yoshino Manabu Funayama Nobutaka Hattori Kenya Nishioka |
| author_sort | Kensuke Daida |
| collection | DOAJ |
| description | Individuals with hereditary spastic paraplegia (HSP) are known to present with a variety of symptoms, including intellectual disability, cognitive decline, parkinsonism, and epilepsy. We report here our experience of treating a family with consanguinity, including three patients with HSP-related symptoms. We performed whole-exome sequencing and identified a novel pathogenic nonsense variant, c.4544G > A, p.W1515*, in the SPG11 gene. Proband and her affected sister showed the same course of gait disturbance due to spastic paraplegia from childhood and progressive cognitive decline from early adulthood. Brain MRI depicted a thinning of the corpus callosum, severe atrophic changes in the frontotemporal lobes, and ears of the lynx sign. Patients with SPG11 variants clinically present with distinctive symptoms. |
| first_indexed | 2024-12-20T19:03:14Z |
| format | Article |
| id | doaj.art-0b11aa0414894d12addc4b6c2416b9cd |
| institution | Directory Open Access Journal |
| issn | 2405-6502 |
| language | English |
| last_indexed | 2024-12-20T19:03:14Z |
| publishDate | 2022-03-01 |
| publisher | Elsevier |
| record_format | Article |
| series | eNeurologicalSci |
| spelling | doaj.art-0b11aa0414894d12addc4b6c2416b9cd2022-12-21T19:29:21ZengElseviereNeurologicalSci2405-65022022-03-0126100391A complex form of hereditary spastic paraplegia harboring a novel variant, p.W1515*, in the SPG11 geneKensuke Daida0Yosuke Nishioka1Yuanzhe Li2Hiroyo Yoshino3Manabu Funayama4Nobutaka Hattori5Kenya Nishioka6Department of Neurology, Juntendo University School of Medicine, 2-1-1 Hongo, Bunkyo-ku, Tokyo 113-8421, JapanNishioka Memorial Central Clinic, 375 Hasama, Isobecho, Shima-shi, Mie 517-0214, JapanDepartment of Neurology, Juntendo University School of Medicine, 2-1-1 Hongo, Bunkyo-ku, Tokyo 113-8421, JapanResearch Institute for Diseases of Old Age, Graduate School of Medicine, Juntendo University, 2-1-1 Hongo, Bunkyo-ku, Tokyo 113-8421, JapanDepartment of Neurology, Juntendo University School of Medicine, 2-1-1 Hongo, Bunkyo-ku, Tokyo 113-8421, Japan; Research Institute for Diseases of Old Age, Graduate School of Medicine, Juntendo University, 2-1-1 Hongo, Bunkyo-ku, Tokyo 113-8421, JapanDepartment of Neurology, Juntendo University School of Medicine, 2-1-1 Hongo, Bunkyo-ku, Tokyo 113-8421, Japan; Research Institute for Diseases of Old Age, Graduate School of Medicine, Juntendo University, 2-1-1 Hongo, Bunkyo-ku, Tokyo 113-8421, JapanDepartment of Neurology, Juntendo University School of Medicine, 2-1-1 Hongo, Bunkyo-ku, Tokyo 113-8421, Japan; Corresponding author.Individuals with hereditary spastic paraplegia (HSP) are known to present with a variety of symptoms, including intellectual disability, cognitive decline, parkinsonism, and epilepsy. We report here our experience of treating a family with consanguinity, including three patients with HSP-related symptoms. We performed whole-exome sequencing and identified a novel pathogenic nonsense variant, c.4544G > A, p.W1515*, in the SPG11 gene. Proband and her affected sister showed the same course of gait disturbance due to spastic paraplegia from childhood and progressive cognitive decline from early adulthood. Brain MRI depicted a thinning of the corpus callosum, severe atrophic changes in the frontotemporal lobes, and ears of the lynx sign. Patients with SPG11 variants clinically present with distinctive symptoms.http://www.sciencedirect.com/science/article/pii/S2405650221000848Hereditary spastic paraplegiaWhole exome sequencingMRISPG11Ears of the lynx sign |
| spellingShingle | Kensuke Daida Yosuke Nishioka Yuanzhe Li Hiroyo Yoshino Manabu Funayama Nobutaka Hattori Kenya Nishioka A complex form of hereditary spastic paraplegia harboring a novel variant, p.W1515*, in the SPG11 gene eNeurologicalSci Hereditary spastic paraplegia Whole exome sequencing MRI SPG11 Ears of the lynx sign |
| title | A complex form of hereditary spastic paraplegia harboring a novel variant, p.W1515*, in the SPG11 gene |
| title_full | A complex form of hereditary spastic paraplegia harboring a novel variant, p.W1515*, in the SPG11 gene |
| title_fullStr | A complex form of hereditary spastic paraplegia harboring a novel variant, p.W1515*, in the SPG11 gene |
| title_full_unstemmed | A complex form of hereditary spastic paraplegia harboring a novel variant, p.W1515*, in the SPG11 gene |
| title_short | A complex form of hereditary spastic paraplegia harboring a novel variant, p.W1515*, in the SPG11 gene |
| title_sort | complex form of hereditary spastic paraplegia harboring a novel variant p w1515 in the spg11 gene |
| topic | Hereditary spastic paraplegia Whole exome sequencing MRI SPG11 Ears of the lynx sign |
| url | http://www.sciencedirect.com/science/article/pii/S2405650221000848 |
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