caa a22 4500 445357185 CHVBK 20180317142904.0 cr unu---uuuuu 170323e20110801xx s 000 0 eng 10.1007/s10072-010-0445-8 doi (NATIONALLICENCE)springer-10.1007/s10072-010-0445-8 A novel mutation in KIF5A gene causing hereditary spastic paraplegia with axonal neuropathy [Elektronische Daten] [Olimpia Musumeci, Maria Bassi, Anna Mazzeo, Marina Grandis, Claudia Crimella, Andrea Martinuzzi, Antonio Toscano] 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. Springer-Verlag, 2010 Hereditary spastic paraplegia nationallicence KIF5A nationallicence SPG10 nationallicence Peripheral neuropathy nationallicence Musumeci Olimpia Department of Neurosciences, Psychiatry and Anaesthesiology, University of Messina, Messina, Italy aut Bassi Maria Laboratory of Molecular Biology IRCCS E. Medea, Bosisio Parini, Lecco, Italy aut Mazzeo Anna Department of Neurosciences, Psychiatry and Anaesthesiology, University of Messina, Messina, Italy aut Grandis Marina Department of Neurosciences, Ophthalmology, and Genetics, University of Genova, Genova, Italy aut Crimella Claudia Laboratory of Molecular Biology IRCCS E. Medea, Bosisio Parini, Lecco, Italy aut Martinuzzi Andrea IRCCS E. Medea Scientific Institute, Conegliano Research Centre, Conegliano, Italy aut Toscano Antonio Department of Neurosciences, Psychiatry and Anaesthesiology, University of Messina, Messina, Italy aut Neurological Sciences Springer Milan 32/4(2011-08-01), 665-668 1590-1874 32:4<665 2011 32 10072 https://doi.org/10.1007/s10072-010-0445-8 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s10072-010-0445-8 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Musumeci Olimpia Department of Neurosciences, Psychiatry and Anaesthesiology, University of Messina, Messina, Italy aut NATIONALLICENCE 700 1- Bassi Maria Laboratory of Molecular Biology IRCCS E. Medea, Bosisio Parini, Lecco, Italy aut NATIONALLICENCE 700 1- Mazzeo Anna Department of Neurosciences, Psychiatry and Anaesthesiology, University of Messina, Messina, Italy aut NATIONALLICENCE 700 1- Grandis Marina Department of Neurosciences, Ophthalmology, and Genetics, University of Genova, Genova, Italy aut NATIONALLICENCE 700 1- Crimella Claudia Laboratory of Molecular Biology IRCCS E. Medea, Bosisio Parini, Lecco, Italy aut NATIONALLICENCE 700 1- Martinuzzi Andrea IRCCS E. Medea Scientific Institute, Conegliano Research Centre, Conegliano, Italy aut NATIONALLICENCE 700 1- Toscano Antonio Department of Neurosciences, Psychiatry and Anaesthesiology, University of Messina, Messina, Italy aut NATIONALLICENCE 773 0- Neurological Sciences Springer Milan 32/4(2011-08-01), 665-668 1590-1874 32:4<665 2011 32 10072 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer