1. Childhood-onset hereditary spastic paraplegia and its treatable mimics
- Author
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Afshin Saffari, Darius Ebrahimi-Fakhari, and Phillip L. Pearl
- Subjects
0301 basic medicine ,congenital, hereditary, and neonatal diseases and abnormalities ,Pediatrics ,medicine.medical_specialty ,Hereditary spastic paraplegia ,Endocrinology, Diabetes and Metabolism ,Genetic counseling ,030105 genetics & heredity ,Biochemistry ,Cerebrotendinous Xanthomatosis ,Article ,Cerebral palsy ,03 medical and health sciences ,0302 clinical medicine ,Endocrinology ,Spastic diplegia ,Genetics ,Medicine ,Spasticity ,Molecular Biology ,business.industry ,Biotinidase deficiency ,medicine.disease ,nervous system diseases ,Inborn error of metabolism ,medicine.symptom ,business ,030217 neurology & neurosurgery - Abstract
Early-onset forms of hereditary spastic paraplegia and inborn errors of metabolism that present with spastic diplegia are among the most common "mimics" of cerebral palsy. Early detection of these heterogenous genetic disorders can inform genetic counseling, anticipatory guidance, and improve outcomes, particularly where specific treatments exist. The diagnosis relies on clinical pattern recognition, biochemical testing, neuroimaging, and increasingly next-generation sequencing-based molecular testing. In this short review, we summarize the clinical and molecular understanding of: 1) childhood-onset and complex forms of hereditary spastic paraplegia (SPG5, SPG7, SPG11, SPG15, SPG35, SPG47, SPG48, SPG50, SPG51, SPG52) and, 2) the most common inborn errors of metabolism that present with phenotypes that resemble hereditary spastic paraplegia.
- Published
- 2022