Hereditary Spastic Paraplegia Mimicking Cerebral Palsy-Heterozygous Mutation in ALDH18A1
Spastic paraplegias are characterised by progressive rigidity and weakness of the lower limbs. Spastic paraplegia is a standard differential diagnosis for spastic diplegic cerebral palsy. Hereditary Spastic Paraplegias (HSP) are genetically and clinically heterogeneous group of neurodegenerative d...
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| Autores principales: | , , , , |
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| Formato: | article |
| Lenguaje: | EN |
| Publicado: |
JCDR Research and Publications Private Limited
2021
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| Materias: | |
| Acceso en línea: | https://doaj.org/article/a638fe83c7294f10933bebaaf05f37ec |
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| Sumario: | Spastic paraplegias are characterised by progressive rigidity and weakness of the lower limbs. Spastic paraplegia is a standard
differential diagnosis for spastic diplegic cerebral palsy. Hereditary Spastic Paraplegias (HSP) are genetically and clinically
heterogeneous group of neurodegenerative disorders causing paraplegias. Eighty forms of HSP have been noted and 64 genes
have been identified. The Aldehyde Dehydrogenase 18 family member A1 (ALDH18A1) gene is located at 10q24.1 and it encodes
delta-1-Pyrroline-5-Carboxylate Synthetase (P5CS), a mitochondrial bifunctional enzyme which is used for catalysing various amino
acids. Mutations in this gene causes P5CS deficiency, which is responsible for neurodegenerative diseases. One should suspect
neurometabolic conditions when no definite history of birth asphyxia is present in a case of cerebral palsy. Hereby, the authors
report a case of a one-year-old male child with heterozygous mutation in ALDH18A1 gene resulting in spastic diplegia. |
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