A novel mutation in KIF5A gene causing hereditary spastic paraplegia with axonal neuropathy
Copyright policy )A novel mutation in KIF5A gene causing hereditary spastic paraplegia with axonal neuropathy
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.
- University of Turin Italy
- University of Genoa Italy
- MRC Laboratory of Molecular Biology United Kingdom
- University of Messina Italy
- Medical Research Council United Kingdom
Adenosine Triphosphatases, Male, Neurologic Examination, Spastin, Spastic Paraplegia, Hereditary, Biopsy, Molecular Sequence Data, Kinesins, Membrane Proteins, Hereditary spastic paraplegia; KIF5A; Peripheral neuropathy; SPG10, Middle Aged, Axons, Electrophysiological Phenomena, Pedigree, GTP-Binding Proteins, Mutation, Humans, Family, Amino Acid Sequence, Molecular Biology, Gait Disorders, Neurologic
Adenosine Triphosphatases, Male, Neurologic Examination, Spastin, Spastic Paraplegia, Hereditary, Biopsy, Molecular Sequence Data, Kinesins, Membrane Proteins, Hereditary spastic paraplegia; KIF5A; Peripheral neuropathy; SPG10, Middle Aged, Axons, Electrophysiological Phenomena, Pedigree, GTP-Binding Proteins, Mutation, Humans, Family, Amino Acid Sequence, Molecular Biology, Gait Disorders, Neurologic
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