학술논문
Childhood-onset hereditary spastic paraplegia and its treatable mimics.
Document Type
Article
Source
Subject
*FAMILIAL spastic paraplegia
*INBORN errors of metabolism
*CEREBRAL palsy
*GENETIC disorders
*GENETIC counseling
*METABOLISM
*MOLECULAR pathology
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Language
ISSN
1096-7192
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. [ABSTRACT FROM AUTHOR]