A clinical, genetic and candidate gene study of Silver syndrome, a complicated form of hereditary spastic paraplegia

Journal of Neurology
Thomas T WarnerAndrew H Crosby

Abstract

Silver syndrome (SS) is a complicated form of hereditary spastic paraplegia associated with distal wasting of the small muscles of the hands. We have previously described a large kindred with SS and mapped a genetic locus (SPG17) to chromosome 11q12-q14. In the current study we analyse the clinical phenotype and perform linkage analysis in three new SS families. In addition we analyse candidate genes mapping to the SS locus (SPG17). Clinical assessments were performed on 25 (15 affected) individuals from each family in which SS segregates with variable clinical expression. Neurophysiological studies, performed in the index case of two families, suggested anterior horn cell or nerve root involvement. Linkage analysis using microsatellite markers mapping to the SPG17 locus was performed and only one of the three families had a microsatellite segregation pattern compatible with linkage. Candidate genes mapping to the SS critical region were analysed in this and one other SPG17-linked family. Mutation analysis of genes encoding calpain 1 ( CAPN1), copper chaperone for superoxide dismutase ( CCS), ADP ribosylation factor-like 2 ( ARL2), LOC120664, a putative homologue of atlastin ( ATLSTL-1) and sorting nexin 15 ( SNX15) failed to i...Continue Reading

Citations

Jan 24, 2006·Neuromuscular Disorders : NMD·Bart P C van de WarrenburgBaziel G M van Engelen
Sep 1, 2005·Annals of Neurology·Antonio OrlacchioGiorgio Bernardi
Jul 7, 2017·Cold Spring Harbor Molecular Case Studies·Leila DardourKoen Devriendt
Sep 20, 2019·Annals of the New York Academy of Sciences·Hanting LiangHui Pan
May 4, 2010·Annals of Neurology·M Chiara ManziniChristopher A Walsh
Jun 30, 2021·Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova·G E RudenskayaO P Ryzhkova

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