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Your search keyword '"Cinti, R"' showing total 13 results
Start Over Author "Cinti, R" Publisher elsevier bv
13 results on '"Cinti, R"'

13. Genetic Mapping to 10q23.3-q24.2, in a Large Italian Pedigree, of a New Syndrome Showing Bilateral Cataracts, Gastroesophageal Reflux, and Spastic Paraparesis with Amyotrophy

Author

Giuseppe De Michele, C. Borrone, Marco Seri, Rita Bini, Paola Forabosco, Paolo Picco, Giovanni Romeo, Marcella Devoto, Margherita Lerone, Margherita Silengo, Ivana Pela, Roberta Cinti, Vincenzo Brescia Morra, Roberto Cusano, Francesco Caroli, Seri, M, Cusano, R, Forabosco, P, Cinti, R, Caroli, F, Picco, P, Bini, R, BRESCIA MORRA, Vincenzo, DE MICHELE, Giuseppe, Lerone, M, Silengo, M, Pela, I, Borrone, C, Romeo, G, and Devoto, M.

Subjects
Male, medicine.medical_specialty, Eye disease, Molecular Sequence Data, Wide genome screening, Neurological disorder, Cataract, Anticipation, medicine, Genetics, Brachial Plexus Neuritis, Humans, Bilateral cataract, Abnormalities, Multiple, Genetics(clinical), Spasticity, Genetics (clinical), Base Sequence, business.industry, Chromosomes, Human, Pair 10, Chromosome Mapping, Syndrome, Amyotrophy, medicine.disease, Dermatology, Paraparesis, Tropical Spastic, Bilateral Cataracts, Pedigree, Haplotypes, Italy, Spastic paraparesis, Anticipation (genetics), Chromosomal region, Gastroesophageal Reflux, Chromosome 10q23.3-24.2, Female, medicine.symptom, business, Trinucleotide repeat expansion, Linkage analysis, Research Article
Abstract

SummaryWe have recently observed a large pedigree with a new rare autosomal dominant spastic paraparesis. In three subsequent generations, 13 affected individuals presented with bilateral cataracts, gastroesophageal reflux with persistent vomiting, and spastic paraparesis with amyotrophy. Bilateral cataracts occurred in all affected individuals, with the exception of one patient who presented with a chorioretinal dystrophy, whereas clinical signs of spastic paraparesis showed a variable expressivity. Using a genomewide mapping approach, we mapped the disorder to the long arm of chromosome 10 on band q23.3-q24.2, in a 12-cM chromosomal region where additional neurologic disorders have been localized. The spectrum of phenotypic manifestations in this family is reminiscent of a smaller pedigree, reported recently, confirming the possibility of a new syndrome. Finally, the anticipation of symptoms suggests that an unstable trinucleotide repeat may be responsible for the condition.

Published
1999
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