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Expansion of the mutation and phenotypic spectrum of hereditary spastic paraplegia.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 1 Aug 2022

Xing Fu, Du Juan

Abstract excerpt

BACKGROUND: Hereditary spastic paraplegias (HSPs) are a heterogeneous group of rare neurodegenerative disorders affecting the corticospinal tracts, and more than 80 HSP loci have been mapped to cause HSP. In this study, we aim to perform a genetic and clinical study of ten (6 male, 4 female) sporadic Chinese HSP patients. METHODS: Next-generation sequencing (NGS) gene panels combined with multiplex...

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PMID: 35348942
DOI: 10.1007/s10072-022-05921-3

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