White matter lesions in spastic paraplegia with mutations in SPG5/CYP7B1
Copyright policy )White matter lesions in spastic paraplegia with mutations in SPG5/CYP7B1
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 (<1%) cases, even in those with complicated clinical features.
- University of Genoa Italy
- Bambino Gesù Children's Hospital Italy
- Boston Children's Hospital United States
Adult, Male, Adolescent, Spastic Paraplegia, Hereditary, DNA Mutational Analysis, Cytochrome P450 Family 7, Brain, Magnetic Resonance Imaging, Nerve Fibers, Myelinated, Pedigree, Predictive Value of Tests, Child, Preschool, Mutation, Steroid Hydroxylases, Humans, Female, Genetic Predisposition to Disease, Genetic Testing, Child, Chromosomes, Human, Pair 8
Adult, Male, Adolescent, Spastic Paraplegia, Hereditary, DNA Mutational Analysis, Cytochrome P450 Family 7, Brain, Magnetic Resonance Imaging, Nerve Fibers, Myelinated, Pedigree, Predictive Value of Tests, Child, Preschool, Mutation, Steroid Hydroxylases, Humans, Female, Genetic Predisposition to Disease, Genetic Testing, Child, Chromosomes, Human, Pair 8
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