Abstract
Hereditary spastic paraplegias are genetically and clinically heterogeneous. Twentysix loci have been identified to date. SPG27 was recently mapped to chromosome 10 in a single family with autosomal recessive hereditary spastic paraplegia (AR–HSP) and a pure phenotype. We describe a Tunisian family with a complicated form of AR–HSP also linked to SPG27. The parents are first cousins and 3 out of their 4 children manifest early onset progressive spastic paraparesis associated with sensorimotor polyneuropathy. In addition, the eldest girl had facial dysmorphism and short stature (–3SD). Two of the three patients were mentally retarded, and one of these also had cerebellar signs. Their ages at onset were 2, 5 and 7 years. A genome–wide scan suggested linkage to SPG27 on the long arm of chromosome 10 with a multipoint lod score of 2.54. In addition, a recombination detected in this family by haplotype reconstruction reduced the SPG27 locus from 25 to 19.6 cM. This is the first clinical description of a complicated form of spastic paraplegia, characterized by great phenotypic variability among the sibs, associated with the SPG27 locus.
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Ribai, P., Stevanin, G., Bouslam, N. et al. A new phenotype linked to SPG27 and refinement of the critical region on chromosome. J Neurol 253, 714–719 (2006). https://doi.org/10.1007/s00415-006-0094-2
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DOI: https://doi.org/10.1007/s00415-006-0094-2