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Article

Challenges and Controversies in the Genetic Diagnosis of Hereditary Spastic Paraplegia.

Current neurology and neuroscience reports - 28 Feb 2021

Saputra Lydia, Kumar Kishore Raj

Abstract excerpt

PURPOSE OF REVIEW: The hereditary spastic paraplegias (HSPs) are a group of disorders characterised by progressive lower limb weakness and spasticity. We address the challenges and controversies involved in the genetic diagnosis of HSP. RECENT FINDINGS: There is a large and rapidly expanding list of genes implicated in HSP, making it difficult to keep gene testing panels updated. There is also a high degree of...

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Identifiers

PMID: 33646413
DOI: 10.1007/s11910-021-01099-x
PMCID: PMC7921051

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