Spastic paraplegia, optic atrophy, and neuropathy is linked to chromosome 11q13
| Autor: | Alessandra Starling, Fernando Kok, Agnes L. Nishimura, Lúcia Inês Macedo-Souza, Angelina Maria Martins Lino, Simone Amorim, Karina Lezirovitz, Silvana Santos, Mayana Zatz |
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| Rok vydání: | 2005 |
| Předmět: |
Adult
Male Reflex Startle Pediatrics medicine.medical_specialty Sensory axonal neuropathy Adolescent Genetic Linkage Neurological disorder Audiology CROMOSSOMOS Optic neuropathy Central nervous system disease Dysarthria Atrophy Optic Atrophies Hereditary medicine Spastic Humans Abnormalities Multiple Age of Onset Child Paraplegia Chromosomes Human Pair 11 Chromosome Mapping DNA Middle Aged medicine.disease Spine Pedigree Neurology Disease Progression Female Joints Neurology (clinical) medicine.symptom Hereditary Sensory and Motor Neuropathy Psychology Brazil Microsatellite Repeats |
| Zdroj: | Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual) Universidade de São Paulo (USP) instacron:USP |
| ISSN: | 1531-8249 0364-5134 |
| DOI: | 10.1002/ana.20478 |
| Popis: | We report an autosomal recessive neurodegenerative disorder in 25 white members from a large inbred Brazilian family, 22 of whom were evaluated clinically. This condition is characterized by (1) subnormal vision secondary to apparently nonprogressive congenital optic atrophy; (2) onset of progressive spastic paraplegia in infancy; (3) onset of progressive motor and sensory axonal neuropathy in late childhood/early adolescence; (4) dysarthria starting in the third decade of life; (5) exacerbated acoustic startle response; and (6) progressive joint contractures and spine deformities. Motor handicap was severe, and all patients were wheelchair bound after 15 years old. We performed a genome-wide screen including 25 affected individuals and 49 of their unaffected relatives. Linkage was detected at 11q13 region with a maximum logarithm of odds score of 14.43, obtained with marker D11S1883. The candidate region, which lies between D11S1908 and D11S1889, encompasses 4.8Mb and has more than 100 genes and expressed sequences. We propose the acronym SPOAN (spastic paraplegia, optic atrophy, and neuropathy) for this complex syndrome. Ann Neurol 2005;57:730 –737 In this article, we describe a large inbred family with 25 affected individuals, of whom 22 were evaluated clinically, with a previously unrecognized neurological disorder. Major manifestations include congenital optic atrophy, early-onset progressive spastic paraplegia, distal axonal motor and sensory peripheral neuropathy, and acoustic startle. A genetic analysis for this condition was able to find a linkage with marker D11S1883 on 11q13. |
| Databáze: | OpenAIRE |
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