Expansion of the phenotypic spectrum of SPG6 caused by mutation in NIPA1
| Autor: | Hong Jiang, Guo-hua Zhao, Kun Xia, Juan Du, Yacen Hu, Beisha Tang, Lu Shen, Chong Chen, Zi-xiong Zhan, Yingying Luo |
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| Rok vydání: | 2010 |
| Předmět: |
Adult
Male Pathology medicine.medical_specialty Adolescent Genotype Hereditary spastic paraplegia Molecular Sequence Data Neural Conduction Chromosome Disorders medicine.disease_cause Young Adult Asian People medicine Spastic Missense mutation Humans Age of Onset Child Genetics Motor Neurons Mutation business.industry Reverse Transcriptase Polymerase Chain Reaction Spastic Paraplegia Hereditary Infant Membrane Proteins General Medicine Exons Middle Aged medicine.disease Phenotype Pedigree Peripheral neuropathy Child Preschool Mutation testing Surgery Female Neurology (clinical) business |
| Zdroj: | Clinical neurology and neurosurgery. 113(6) |
| ISSN: | 1872-6968 |
| Popis: | Background Hereditary spastic paraplegia type 6 (SPG6) is caused by mutations in the NIPA1 gene, this is a rare cause of HSP, until now, all the affected individuals reported displayed “pure” spastic paraplegia. Objectives To analyze the genotype/phenotype correlation of mutations so far described in NIPA1 . Methods Eighty-six Chinese Han HSP patients were investigated for SPG6 mutations by direct sequencing of the NIPA1 gene. Results One heterozygous missense mutation c.316G > C/p.G106R was identified in a complicated form of ADHSP family with peripheral nerves disease, and SPG6 mutation in our sample accounted for 3.6% (1/28) of ADHSP families and 1.1% (1/86) of non-ARHSP patients who were negative for SPG4, SPG3A and SPG31 mutations. Conclusions We report the first complicated case of SPG6 in the world by the presence of peripheral neuropathy, which extends the phenotype initially described. |
| Databáze: | OpenAIRE |
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