Abstract
Hereditary spastic paraplegias (HSPs) are characterized by progressive spasticity in the lower limbs. They are clinically heterogeneous, and pure forms as well as complicated forms with other accompanying clinical findings are known. HSPs are also genetically heterogeneous. We performed clinical and genetic studies in a consanguineous family with five affected members. A genome scan using 405 microsatellite markers for eight members of the family identified candidate gene loci, and subsequent fine mapping in 16 members identified the gene locus responsible for the HSP. The clinical manifestations were very early onset spastic paraplegia (SPG) accompanied by mental retardation and ocular signs. The gene locus was identified as the interval 102.05–106.64 Mbp on chromosome 10. Gene MRPL43 was analyzed in the patients. No mutation but high levels of mRNA were detected. We have mapped a novel autosomal recessive complicated form of HSP (SPG45) to a 4.6-Mbp region at 10q24.3–q25.1 with multipoint logarithm of odds scores >4.5.
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Acknowledgments
We thank the family for participating in the study, Dr. Piraye Serdaroglu for her contribution to the neurological evaluations, and Dr. Mustafa Atas for the ophthalmologic evaluations. We gratefully acknowledge the genome scan of the family performed by NHLBI Mammalian Genotyping Service (contract number HV48141). This work was supported by the Turkish State Planning Organization and the Scientific and Technological Research Council of Turkey (106T596). AT was partially supported by the Turkish Academy of Sciences. SAU was a fellow of the Scientific and Technological Research Council of Turkey.
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Umut Dursun and Cigdem Koroglu contributed equally to this work.
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Dursun, U., Koroglu, C., Kocasoy Orhan, E. et al. Autosomal recessive spastic paraplegia (SPG45) with mental retardation maps to 10q24.3–q25.1. Neurogenetics 10, 325–331 (2009). https://doi.org/10.1007/s10048-009-0191-3
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DOI: https://doi.org/10.1007/s10048-009-0191-3