CAPN1 Variants as Cause of Hereditary Spastic Paraplegia Type 76
Background. Autosomal recessive hereditary spastic paraplegias (HSP) are a rare group of hereditary neurodegenerative disorders characterized by spasticity with or without other symptoms. SPG11 gene is the most common cause of autosomal recessive HSP. We report a case of autosomal recessive spastic...
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| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
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Wiley
2019-01-01
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| Series: | Case Reports in Neurological Medicine |
| Online Access: | http://dx.doi.org/10.1155/2019/7615605 |
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| author | Jesus Eduardo Garcia-Berlanga Mariana Moscovich Isaac Jair Palacios Alejandro Banegas-Lagos Augusto Rojas-Martinez Daniel Martinez-Ramirez |
| author_facet | Jesus Eduardo Garcia-Berlanga Mariana Moscovich Isaac Jair Palacios Alejandro Banegas-Lagos Augusto Rojas-Martinez Daniel Martinez-Ramirez |
| author_sort | Jesus Eduardo Garcia-Berlanga |
| collection | DOAJ |
| description | Background. Autosomal recessive hereditary spastic paraplegias (HSP) are a rare group of hereditary neurodegenerative disorders characterized by spasticity with or without other symptoms. SPG11 gene is the most common cause of autosomal recessive HSP. We report a case of autosomal recessive spastic paraplegia type 76 due to heterozygous variants of CAPN1 in an Argentinean subject. Case Presentation. A 38-year-old Argentinean female presented with progressive gait problems and instability of 15-year duration. Oculomotor abnormalities, ataxia, bradykinesia, cervical dystonia, and lower limb pyramidal signs were observed. Brain MRI was unremarkable. Whole-exome sequencing analysis identified two heterozygous variants in CAPN1. Conclusions. Clinicians should screen for CAPN1 mutation in a young female patient without significant family history with a spastic paraplegia syndrome associated with other symptoms. |
| format | Article |
| id | doaj-art-441e8d0504734a42801e14bd53ad41db |
| institution | OA Journals |
| issn | 2090-6668 2090-6676 |
| language | English |
| publishDate | 2019-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Neurological Medicine |
| spelling | doaj-art-441e8d0504734a42801e14bd53ad41db2025-08-20T02:05:51ZengWileyCase Reports in Neurological Medicine2090-66682090-66762019-01-01201910.1155/2019/76156057615605CAPN1 Variants as Cause of Hereditary Spastic Paraplegia Type 76Jesus Eduardo Garcia-Berlanga0Mariana Moscovich1Isaac Jair Palacios2Alejandro Banegas-Lagos3Augusto Rojas-Martinez4Daniel Martinez-Ramirez5Tecnologico de Monterrey, Escuela de Medicina y Ciencias de la Salud, Monterrey, Nuevo Leon, MexicoDepartment of Neurology, Christian-Albrechts University, Kiel, GermanyTecnologico de Monterrey, Escuela de Medicina y Ciencias de la Salud, Monterrey, Nuevo Leon, MexicoTecnologico de Monterrey, Escuela de Medicina y Ciencias de la Salud, Monterrey, Nuevo Leon, MexicoTecnologico de Monterrey, Escuela de Medicina y Ciencias de la Salud, Monterrey, Nuevo Leon, MexicoTecnologico de Monterrey, Escuela de Medicina y Ciencias de la Salud, Monterrey, Nuevo Leon, MexicoBackground. Autosomal recessive hereditary spastic paraplegias (HSP) are a rare group of hereditary neurodegenerative disorders characterized by spasticity with or without other symptoms. SPG11 gene is the most common cause of autosomal recessive HSP. We report a case of autosomal recessive spastic paraplegia type 76 due to heterozygous variants of CAPN1 in an Argentinean subject. Case Presentation. A 38-year-old Argentinean female presented with progressive gait problems and instability of 15-year duration. Oculomotor abnormalities, ataxia, bradykinesia, cervical dystonia, and lower limb pyramidal signs were observed. Brain MRI was unremarkable. Whole-exome sequencing analysis identified two heterozygous variants in CAPN1. Conclusions. Clinicians should screen for CAPN1 mutation in a young female patient without significant family history with a spastic paraplegia syndrome associated with other symptoms.http://dx.doi.org/10.1155/2019/7615605 |
| spellingShingle | Jesus Eduardo Garcia-Berlanga Mariana Moscovich Isaac Jair Palacios Alejandro Banegas-Lagos Augusto Rojas-Martinez Daniel Martinez-Ramirez CAPN1 Variants as Cause of Hereditary Spastic Paraplegia Type 76 Case Reports in Neurological Medicine |
| title | CAPN1 Variants as Cause of Hereditary Spastic Paraplegia Type 76 |
| title_full | CAPN1 Variants as Cause of Hereditary Spastic Paraplegia Type 76 |
| title_fullStr | CAPN1 Variants as Cause of Hereditary Spastic Paraplegia Type 76 |
| title_full_unstemmed | CAPN1 Variants as Cause of Hereditary Spastic Paraplegia Type 76 |
| title_short | CAPN1 Variants as Cause of Hereditary Spastic Paraplegia Type 76 |
| title_sort | capn1 variants as cause of hereditary spastic paraplegia type 76 |
| url | http://dx.doi.org/10.1155/2019/7615605 |
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