Erratum: Clinical exome sequencing for cerebellar ataxia and spastic paraplegia uncovers novel gene–disease associations and unanticipated rare disorders

Correction to: European Journal of Human Genetics (2016) 24, 1460–1466; doi:10.1038/ejhg.2016.42; published online 11 May 2016

Since publication, the authors have noticed that they had reported a sibship with autosomal recessive hereditary spastic paraplegia (HSP) in whom they identified a homozygous c.772G>A (p.Glu258Lys) variant in the TH gene, which they classified as possibly causative. This suggested that the TH gene, known to be responsible for autosomal recessive dopamine-responsive dystonia, could also be associated with HSP, as has been suggested for GCH1, the gene for autosomal dominant dopamine-responsive dystonia.¹ However, recently mutations in CAPN1 were found in a new form of autosomal recessive HSP (SPG78)² and querying their exome data revealed a homozygous nonsense mutation (Chr11(GRCh37):g.64951004C>T; NM_005186.3:c.397C>T; p.(Arg133*)) in CAPN1 in this particular sibship. The authors believe that this is the more likely cause for the autosomal recessive HSP in this family.