Hereditary spastic paraplegias (HSPs), a group of neurodegenerative disorders that cause progressive spasticity of the lower limbs, are characterized by clinical and genetic heterogeneity. To date, three loci for autosomal recessive HSP have been mapped on chromosomes 8p, 16q, and 15q. After exclusion of linkage at these loci, we performed a genomewide search in a consanguineous Italian family with autosomal recessive HSP complicated by mild mental retardation and distal motor neuropathy. Using homozygosity mapping, we obtained positive LOD scores for markers on chromosome region 3q27-q28, with a maximum multipoint LOD score of 3.9 for marker D3S1601. Haplotype analysis allowed us to identify a homozygous region (4.5 cM), flanked by markers D3S1580 and D3S3669, that cosegregates with the disease. These data strongly support the presence, on chromosome 3q27-28, of a new locus for complicated recessive spastic paraplegia, which we have named "SPG14."
Background To assess the radiographic third molar maturation with internationally developed techniques for age estimation. Material and Methods The study analyzed 1,062 panoramic radiographs of patients treated at the School of Dentistry of the University of Passo Fundo/RS/Brazil, between 2009 and 2020. The patients were separated into ages between 15.00 and 23.99 years and, for each radiograph, the third molars were classified into stages from 1 to 10, with the subsequent application of one of the formulae proposed by Gunst et al. A dichotomous variable indicating whether each individual was younger or older than 18 was calculated from the chronological age of the individuals. A logistic regression model was adjusted to assess whether the third molar stages are correlated with the age of individuals. Results The error indicators between estimated and chronological ages showed that mean errors closer to zero are seen in the 18-18.9 and 17-17.9 age groups, respectively. Male individuals were earlier in terms of dental mineralization but there were no significant differences between sexes regarding the applicability of the method. The ROC curve shows that the analysis of a single third molar for age estimation gives a maximum of 70.4% reliability. Conclusions The moderate performance of the technique tested in the present study justify future country-specific corrections to improve age estimation from the radiographic assessment of third molar maturity. Key words: Dental age estimation, forensic dentistry, radiology, third molar.
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