TY - JOUR
T1 - A novel mutation in KIF5A gene causing hereditary spastic paraplegia with axonal neuropathy
AU - Musumeci, Olimpia
AU - Bassi, Maria Teresa
AU - Mazzeo, Anna
AU - Grandis, Marina
AU - Crimella, Claudia
AU - Martinuzzi, Andrea
AU - Toscano, Antonio
PY - 2011/8
Y1 - 2011/8
N2 - Hereditary spastic paraplegias (HSPs) include a group of neurodegenerative diseases, and so far 46 SPG loci have been mapped and 17 genes isolated. Among the autosomal dominant HSPs (AD-HSPs), SPG10 is a rare form due to mutations in KIF5A gene (locus 12q13.3). We describe the clinical, neurophysiological, morphological and genetic study of an Italian family with AD-HSP. The proband presented with an adult onset spastic paraparesis and diffuse paresthesias where neurophysiological and nerve biopsy morphological studies revealed an axonal neuropathy. Molecular genetic analysis identified a new missense mutation (c.608C[G) of KIF5A gene resulting in a serine to cysteine substitution, S203C, located in a highly conserved domain of the protein. This pedigree confirms the occurrence of an axonal peripheral neuropathy in SPG10.
AB - Hereditary spastic paraplegias (HSPs) include a group of neurodegenerative diseases, and so far 46 SPG loci have been mapped and 17 genes isolated. Among the autosomal dominant HSPs (AD-HSPs), SPG10 is a rare form due to mutations in KIF5A gene (locus 12q13.3). We describe the clinical, neurophysiological, morphological and genetic study of an Italian family with AD-HSP. The proband presented with an adult onset spastic paraparesis and diffuse paresthesias where neurophysiological and nerve biopsy morphological studies revealed an axonal neuropathy. Molecular genetic analysis identified a new missense mutation (c.608C[G) of KIF5A gene resulting in a serine to cysteine substitution, S203C, located in a highly conserved domain of the protein. This pedigree confirms the occurrence of an axonal peripheral neuropathy in SPG10.
KW - Hereditary spastic paraplegia
KW - KIF5A
KW - Peripheral neuropathy
KW - SPG10
UR - http://www.scopus.com/inward/record.url?scp=80053995429&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=80053995429&partnerID=8YFLogxK
U2 - 10.1007/s10072-010-0445-8
DO - 10.1007/s10072-010-0445-8
M3 - Article
C2 - 21107874
AN - SCOPUS:80053995429
VL - 32
SP - 665
EP - 668
JO - Neurological Sciences
JF - Neurological Sciences
SN - 1590-1874
IS - 4
ER -