European journal of neurology · 2012
Novel SPG10 mutation associated with dysautonomia, spinal cord atrophy, and skin biopsy abnormality.
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Collongues N, Depienne C, Boehm N, Echaniz-Laguna A, Samama B, Dürr A, Stevanin G, Leguern E, Brice A, Labauge P, de Seze J
Аннотация
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.
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.