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White matter lesions in spastic paraplegia with mutations in SPG5/CYP7B1 |
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| Authors: | Roberta Biancheri Marianna Ciccolella Andrea Rossi Alessandra Tessa Denise Cassandrini Carlo Minetti Filippo M Santorelli |
| Institution: | 1. IRCCS G. Gaslini Pediatric Institute and University of Genoa, Units of Muscular and Neurodegenerative Diseases, Child Neurology and Psychiatry, and Neuroradiology, IRCCS Bambino Gesù Children’s Hospital, Piazza S. Onofrio 4, 00165 Rome, Italy;2. Molecular Medicine and Neurology, IRCCS Bambino Gesù Children’s Hospital, Piazza S. Onofrio 4, 00165 Rome, Italy;1. Department of Internal Medicine, Uijeongbu St. Mary’s Hospital, The Catholic University of Korea, Seoul, South Korea;2. Department of Hospital Pathology, Uijeongbu St. Mary’s Hospital, The Catholic University of Korea, Seoul, South Korea;3. Department of Internal Medicine, Seoul St. Mary’s Hospital, The Catholic University of Korea, Seoul, South Korea;1. Institute of Bioorganic Chemistry NAS of Belarus, Minsk, Belarus;2. Sechenov First Moscow State Medical University, Moscow, Russia |
| Abstract: | 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. |
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