Hereditary spastic paraplegia due to NIPA1 gene mutation: Case report
Introduction: Hereditary spastic paraplegia (HSP) is the term for a group of neurological disorders characterized by progressive spasticity and muscle weakness in the lower limbs. Its etiology is genetic and has been associated with mutations in more than 60 genes. HSP is rare and may be useful in...
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Universidad Nacional de Colombia
2022-08-01
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| author | Dary Jizeth Parra-Párraga Eugenia Espinosa-García |
| author_facet | Dary Jizeth Parra-Párraga Eugenia Espinosa-García |
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Introduction: Hereditary spastic paraplegia (HSP) is the term for a group of neurological disorders characterized by progressive spasticity and muscle weakness in the lower limbs. Its etiology is genetic and has been associated with mutations in more than 60 genes. HSP is rare and may be useful in the differential diagnosis of cerebral palsy.
Case presentation: 16-year-old male with a diagnosis of HSP due to mutation of the NIPA1 gene:c.316G>A (p. Gly106arg), which corresponds to HSP type 6 (SPG6). The patient presented with clinical signs of progressive upper motor neuron syndrome in the lower limbs, such as spasticity, hyperreflexia and paraparesis, associated with focal onset seizures diagnosed at age 11 and successfully treated with valproic acid. Spasticity treatment was complex and included oral baclofen, intraoperative botulinum toxin, physical therapy, and multilevel orthopedic surgery for the management of musculoskeletal deformities.
Conclusion: This is a rare case of complex HSP, associated with epilepsy, due to the mutation of the NIPA1 gene (SPG6), the most common pathogenic variant within this type of mutation. The present case demonstrates the importance of making an early diagnosis of GSP6 to perform timely interventions in these patients, prevent complications, and avoid a higher level of disability.
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| format | Article |
| id | doaj-art-3d275f17dd4e475884d9b69fff82dd41 |
| institution | OA Journals |
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| language | English |
| publishDate | 2022-08-01 |
| publisher | Universidad Nacional de Colombia |
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| spelling | doaj-art-3d275f17dd4e475884d9b69fff82dd412025-08-20T02:05:29ZengUniversidad Nacional de ColombiaCase Reports2462-85222022-08-018110.15446/cr.v8n1.90865Hereditary spastic paraplegia due to NIPA1 gene mutation: Case reportDary Jizeth Parra-Párraga0https://orcid.org/0000-0001-9726-8895Eugenia Espinosa-García1https://orcid.org/0000-0003-0890-6475Universidad Militar Nueva GranadaUniversidad Militar Nueva Granada Introduction: Hereditary spastic paraplegia (HSP) is the term for a group of neurological disorders characterized by progressive spasticity and muscle weakness in the lower limbs. Its etiology is genetic and has been associated with mutations in more than 60 genes. HSP is rare and may be useful in the differential diagnosis of cerebral palsy. Case presentation: 16-year-old male with a diagnosis of HSP due to mutation of the NIPA1 gene:c.316G>A (p. Gly106arg), which corresponds to HSP type 6 (SPG6). The patient presented with clinical signs of progressive upper motor neuron syndrome in the lower limbs, such as spasticity, hyperreflexia and paraparesis, associated with focal onset seizures diagnosed at age 11 and successfully treated with valproic acid. Spasticity treatment was complex and included oral baclofen, intraoperative botulinum toxin, physical therapy, and multilevel orthopedic surgery for the management of musculoskeletal deformities. Conclusion: This is a rare case of complex HSP, associated with epilepsy, due to the mutation of the NIPA1 gene (SPG6), the most common pathogenic variant within this type of mutation. The present case demonstrates the importance of making an early diagnosis of GSP6 to perform timely interventions in these patients, prevent complications, and avoid a higher level of disability. https://revistas.unal.edu.co/index.php/care/article/view/90865Hereditary spastic ParaplegiaMutationGenetics |
| spellingShingle | Dary Jizeth Parra-Párraga Eugenia Espinosa-García Hereditary spastic paraplegia due to NIPA1 gene mutation: Case report Case Reports Hereditary spastic Paraplegia Mutation Genetics |
| title | Hereditary spastic paraplegia due to NIPA1 gene mutation: Case report |
| title_full | Hereditary spastic paraplegia due to NIPA1 gene mutation: Case report |
| title_fullStr | Hereditary spastic paraplegia due to NIPA1 gene mutation: Case report |
| title_full_unstemmed | Hereditary spastic paraplegia due to NIPA1 gene mutation: Case report |
| title_short | Hereditary spastic paraplegia due to NIPA1 gene mutation: Case report |
| title_sort | hereditary spastic paraplegia due to nipa1 gene mutation case report |
| topic | Hereditary spastic Paraplegia Mutation Genetics |
| url | https://revistas.unal.edu.co/index.php/care/article/view/90865 |
| work_keys_str_mv | AT daryjizethparraparraga hereditaryspasticparaplegiaduetonipa1genemutationcasereport AT eugeniaespinosagarcia hereditaryspasticparaplegiaduetonipa1genemutationcasereport |