White matter lesions in spastic paraplegia with mutations in SPG5/CYP7B1
| Autor: | Denise Cassandrini, Filippo M. Santorelli, Marianna Ciccolella, R. Biancheri, Alessandra Tessa, Andrea Rossi, Carlo Minetti |
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| Rok vydání: | 2008 |
| Předmět: |
Adult
Male Pathology medicine.medical_specialty CYP7B1 Adolescent DNA Mutational Analysis Cytochrome P450 Family 7 Locus (genetics) Biology Nerve Fibers Myelinated White matter Young Adult Predictive Value of Tests medicine Spastic Humans Genetic Predisposition to Disease Genetic Testing Child Gene Genetics (clinical) Genetic testing Genetics medicine.diagnostic_test Genetic heterogeneity Spastic Paraplegia Hereditary Brain Magnetic Resonance Imaging Hyperintensity Pedigree medicine.anatomical_structure Neurology Child Preschool Pediatrics Perinatology and Child Health Mutation Steroid Hydroxylases Female Neurology (clinical) Chromosomes Human Pair 8 |
| Zdroj: | Neuromuscular disorders : NMD. 19(1) |
| ISSN: | 0960-8966 |
| Popis: | Hereditary spastic paraplegias (HSPs) are relatively frequent disorders presenting great genetic heterogeneity. The recent identification of mutations in SPG5/CYP7B1 in six autosomal recessive kindred linked to the SPG5 locus on chromosome 8q prompted us to test the relative frequency of SPG5/CYP7B1 variants in 12 families and in sporadic HSP patients by high-resolution melting screening combined with direct sequencing. We present two patients who harbored three mutations (including two novel variants) in SPG5/CYP7B1 and white matter involvement evidenced at brain MRI. In HSP patients in whom no other genes were mutated, screening of SPG5/CYP7B1 seems to have a low diagnostic yield in autosomal recessive (8%) and sporadic ( |
| Databáze: | OpenAIRE |
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