Novel SPG10 mutation associated with dysautonomia, spinal cord atrophy, and skin biopsy abnormality.
Eur J Neurol
; 20(2): 398-401, 2013 Feb.
Article
em En
| MEDLINE
| ID: mdl-22788249
ABSTRACT
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.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Pele
/
Medula Espinal
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Paraplegia Espástica Hereditária
/
Cinesinas
/
Disautonomias Primárias
Tipo de estudo:
Risk_factors_studies
Limite:
Adult
/
Female
/
Humans
/
Male
Idioma:
En
Ano de publicação:
2013
Tipo de documento:
Article