Association of an insertion mutation in PRRT2 with hereditary spastic paraplegia accompanied by polyneuropathy

Background: Hereditary spastic paraplegia is a rare familial hereditary neurodegenerative disease caused by multiple autosomal dominant mutations. More than 50 mutant genes have been reported to be associated with this disease. Methods: In this study, we have reported a rare insertion mutation site...

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Bibliographic Details
Main Authors:	Cao, H. (Author), Dong, H. (Author), Ji, X. (Author), Luan, S. (Author), Wang, Z. (Author)
Format:	Article
Language:	English
Published:	John Wiley and Sons Inc 2021
Subjects:	adult amino acid substitution arginine Article autosomal dominant disorder blood analysis case report clinical article DNA extraction exon family study female Female gene insertion gene location gene mutation genetic association genetics genomic DNA hereditary motor sensory neuropathy hereditary spastic paraplegia human Humans indel mutation INDEL Mutation insertion mutation male Male membrane protein Membrane Proteins middle aged Middle Aged mutational analysis nerve protein Nerve Tissue Proteins nuclear magnetic resonance imaging paresthesia pathogenesis pedigree Pedigree physical examination Polyneuropathies polyneuropathy proline proline rich transmembrane protein 2 PRRT2 PRRT2 gene PRRT2 protein, human sequence analysis Spastic Paraplegia, Hereditary unclassified drug weakness whole exome sequencing
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Association of an insertion mutation in PRRT2 with hereditary spastic paraplegia accompanied by polyneuropathy

Internet

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