Novel SPG10 mutation associated with dysautonomia, spinal cord atrophy, and skin biopsy abnormality.
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.


CONCLUSIONS
This study extends the phenotype of SPG10 and argues for abnormalities in the axonal vesicular transport.
Department of Neurology, University of Strasbourg, Strasbourg, France. nicolas.collongues@chru-strasbourg.fr
N
N
Collongues
C
C
Depienne
N
N
Boehm
A
A
Echaniz-Laguna
B
B
Samama
A
A
Dürr
G
G
Stevanin
E
E
Leguern
A
A
Brice
P
P
Labauge
J
J
de Seze
D000328:Adult; D001284:Atrophy / Q000235:genetics / Q000473:pathology; D001706:Biopsy; D002540:Cerebral Cortex / Q000473:pathology; D003711:Demyelinating Diseases / Q000473:pathology; D005260:Female; D006801:Humans; D016547:Kinesins / Q000235:genetics*; D008297:Male; D010375:Pedigree; D010641:Phenotype; D011115:Polyneuropathies / Q000150:complications / Q000473:pathology; D054969:Primary Dysautonomias / Q000150:complications / Q000235:genetics* / Q000473:pathology*; D012867:Skin / Q000473:pathology*; D015419:Spastic Paraplegia, Hereditary / Q000150:complications / Q000235:genetics* / Q000473:pathology*; D013116:Spinal Cord / Q000473:pathology*; D013572:Synaptic Vesicles / Q000378:metabolism; D016708:Synaptophysin / Q000378:metabolism
C500506:KIF5A protein, human; D016708:Synaptophysin; D016547:Kinesins