Genetic testing for the spastic paraplegias
Drowning by numbers
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Spasticity is a common feature of so many neurologic conditions that even the inherited forms of spasticity are difficult to classify or categorize. Overall, 36 forms of inherited spastic paraplegia have been identified. The well-characterized subgroup of autosomal dominant and pure forms with only pyramidal signs in the lower limbs have already been associated with 15 loci at which 9 genes have been identified, and more unpure forms of the disease exist. This complicates things for neurologists, who do not know which gene to test first, and for molecular geneticists, who have to test multiple genes in the same patient. The horizon has become even wider, because in this issue of Neurology®, Dick et al.1 describe another locus for an autosomal recessive, complex form of spastic paraplegia: SPG35 (table).
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