A new locus for autosomal recessive hereditary spastic paraplegia maps to chromosome 16q24.3

Article Abstract:

Genomewide linkage analysis has been carried out on a large consanguineous family affected with autosomal recessive spastic paraplegia. Evidence of linkage to chromosome 16q24.3 was found with markers D16S413 and D16S303. Age at onset for the family was 25-42 years. All already-described spastic paraplegia loci were excluded. Hereditary spastic paraplegias (HSPs) are inherited disorders characterized by weakness of lower limbs and progressive spasticity.

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Red-green color vision impairment in Duchenne muscular dystrophy

Article Abstract:

A study was conducted to evaluate the color vision of 44 patients with Duchenne muscular dystrophy (DMD) who underwent four different color tests. The four tests Cambridge Colour Test, Neitz Anomaloscope, Ishihara and American Optical Hardy-Rand-Rittler made it possible to identify the existence of losses in color discrimination and to show that these losses were selective for the red-green axis.

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Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia

Article Abstract:

A study identified three mutations such as V626F, L619F and N471D in the KIAA0196 gene in six families that map to the eighth hereditary spastic paraplegia (HSP) locus, SPG8. Results reveal that none of these are identified in 500 control individuals but L619 and V626 residues are strictly conserved across species and have notable effect on the protein product strumpellin.

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