期刊
EUROPEAN JOURNAL OF NEUROLOGY
卷 20, 期 2, 页码 398-401出版社
WILEY
DOI: 10.1111/j.1468-1331.2012.03803.x
关键词
dysautonomia; KIF5A/SPG10; skin biopsy; spastic paraplegia; spinal cord atrophy
Background: SPG10 is a rare form of autosomic dominant hereditary spastic paraplegia (HSP) caused by mutations in the KIF5A gene, which may be involved in axonal transport. Methods: We report the characteristics of a French family with a novel missense mutation c. 580 G>C in exon 7 of the KIF5A gene. Results: The proband and his sister presented with an adult onset HSP, a sensory spinal cord-like syndrome, dysautonomia, and severe axonal polyneuropathy. Contrary to the proband, his sister presented a secondary improvement in spasticity and walking. In the proband, MRI findings consisted in spinal cord atrophy and symmetric cerebral demyelination, whereas the skin biopsy suggested a defect in the number of vesicles and synaptophysin density at the pre-synaptic membrane. Conclusion: This study extends the phenotype of SPG10 and argues for abnormalities in the axonal vesicular transport.
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