Complicated autosomal recessive hereditary spastic paraplegia with vertical eye movement paresis (Parinaud's syndrome): a novel phenotype caused by a new homozygous SPG7 gene muta…

Aims: Hereditary spastic paraplegia (HSP) is a clinically and gentically heterogenous neurodegenerative disorder. Clinically an uncomplicated and a complicated form can be distinguished. The uncomplicated form is characterised by slow progressive spastic paraparesis and disturbation of micturition. For the complicated forms a huge number of additional symptoms have been reported. So far thirty-one different genetic loci (SPG1–31) are known. SPG7 encodes the protein paraplegin, which is a mitochondrial metalloprotease. Mutations of SPG7 account for less than 5% of autosomal recessive hereditary spastic paraplegia…