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To date, 35 genetic loci have been associated with a hereditary spastic paraplegia (HSP phenotype and the responsible gene has been identified at 13 of these loci.1 Heat shock protein 60 (HSP60) protein is a nuclear encoded mitochondrial chaperone protein, mutation in which has been reported in one family with HSP.2 This study aimed to identify the frequency of HSP60 mutations as a cause of autosomal dominant (AD) HSP and describes an interaction between HSP60 polymorphism and spastin mutations.
Methods.
We selected 100 index patients from AD HSP pedigrees who were negative by direct sequencing for spastin mutations and performed direct sequencing of the coding regions of HSP60 3 (for primer details, see table e-1 on the Neurology® Web site at www.neurology.org). Having identified a missense change, we performed restriction enzyme digest (enzyme MwoI) analysis in 131 controls and subsequently in 63 patients with HSP with a known spastin mutation. All patients and controls were of British/Caucasian origin. The Mann-Whitney U test and Student unpaired t test were used to analyze the data as appropriate. This study was approved by the South Sheffield Research Ethics Committee.
Results.
A recently reported heterozygous missense change, c.[1688G>C]/p.Glycine563Alanine (p.[Gly563Ala]),4 was identified in an index case of a large AD HSP pedigree. The p.[Gly563Ala] change was present in 4 out …
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