+ Resolve Article
+ Follow Us
Follow on FacebookFollow on Facebook
Follow on TwitterFollow on Twitter

+ Translate
+ Subscribe to Site Feed
GeoScience Most Shared ContentMost Shared Content

Autosomal recessive spastic paraplegia (SPG45) with mental retardation maps to 10q24.3-q25.1

, : Autosomal recessive spastic paraplegia (SPG45) with mental retardation maps to 10q24.3-q25.1. Neurogenetics 10(4): 325-331

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.


PMID: 19415352

DOI: 10.1007/s10048-009-0191-3

Other references

Uchiyama, M.; Baba, H.; Shiratori, T.; Yamamoto, T., 1971: Carbohydrate metabolism in hemorrhagic shock and glutathione. Masui. Japanese Journal of Anesthesiology 20(10): 930-932

Miura, T.; Meguro, T.; Takayama, S.; Yamada, K., 1997: Interferon therapy for Japanese hemophiliacs with chronic hepatitis C. Eight Japanese hemophiliacs with chronic hepatitis C (CHC) received interferon (IFN) therapy and four of them (50%) responded completely. Non-responders included 3 double-infected patients: 1 with hepatitis B virus (HBV) and 2 with human immunodef...

Gurgel, R.Q.; Correia, J.B.; Cuevas, L.E., 2008: Effect of rotavirus vaccination on circulating virus strains. Lancet 371(9609): 301-302

Tsipriian, V.I.; Martseniuk, N.I., 1984: Toxicological evaluation of products of the photolytic destruction of pesticides. Gigiena i Sanitariia: 77-80

Brem, S.; Ruffner, H.P.; Rast, D.M., 1983: Determination of C distribution in photosynthetic serine and phosphoglycerate from grape leaves. Serine and phosphoglyceric acid are the classical marker intermediates of photorespiration and reductive carbon assimilation in C(3) plants. The present paper introduces a new and fast method for the determination of (14)C distribution in these co...

Stins, J.F.; Michaels, C.F., 1997: Stimulus-target compatibility for reaching movements. Reaction time, movement time, and initial direction of reaching movements toward a target in left or right hemispace were measured. In Experiment 1, the target of movement and hand had to be selected; movements toward the imperative stimulus were...

Pak, S.M., 1961: On biology of Trichomonas foetus Riedmuller, 1928. Natural nidality of diseases and problems of parasitology. Acad Sci Kazakhstan SSR: 207-211

Civeira, G.; Lavado, R.S., 2007: Nitrate losses, nutrients and heavy metal accumulation from substrates assembled for urban soils reconstruction. Urban soils may suffer mild to severe degradation as a result of physical and chemical alterations. To reconstruct these soils, a new upper horizon must be created, usually through the application of organic matter, one source of which is biosolid...

Merryfield, D.L.; Moore, P.D., 1974: Prehistoric human activity and blanket peat initiation. [183.061:141.1]Pollen analysis and radiocarbon dating suggest that the formation of blanket peat on Exmoor may have been caused by stock grazing of woodland under climatic and soil-nutrient stress.

Levey, A.S.; Cattran, D.; Friedman, A.; Miller, W.Greg.; Sedor, J.; Tuttle, K.; Kasiske, B.; Hostetter, T., 2009: Proteinuria as a surrogate outcome in CKD: report of a scientific workshop sponsored by the National Kidney Foundation and the US Food and Drug Administration. Changes in proteinuria have been suggested as a surrogate outcome for kidney disease progression to facilitate the conduct of clinical trials. This report summarizes a workshop sponsored by the National Kidney Foundation and US Food and Drug Admin...