NIPA1mutation in complex hereditary spastic paraplegia with epilepsy
- 22 February 2011
- journal article
- case report
- Published by Wiley in European Journal of Neurology
- Vol. 18 (9), 1197-1199
- https://doi.org/10.1111/j.1468-1331.2011.03359.x
Abstract
Hereditary spastic paraplegia (HSP) is a group of clinically and genetically heterogeneous neurodegenerative disorders characterized in the 'pure' phenotype by progressive spasticity and weakness of the lower limbs. In the 'complex' phenotype, additional neurologic symptoms or signs are found. Mutations in the NIPA1 gene have been reported to cause spastic paraplegia type 6 (SPG6) in 10 families. SPG6 is a rare form of autosomal dominantly inherited HSP associated with a pure phenotype; however, in one complex SPG6 family, idiopathic generalized epilepsy (IGE) has been described and in addition, recurrent microdeletions at 15q11.2 including NIPA1 have been identified in patients with IGE. The purpose was to identify NIPA1 mutations in patients with pure and complex HSP. Fifty-two patients with HSP were screened for mutations in NIPA1. One previously reported missense mutation c.316G>A, p.Gly106Arg, was identified in a complex HSP patient with spastic dysarthria, facial dystonia, atrophy of the small hand muscles, upper limb spasticity, and presumably IGE. The epilepsy co-segregated with HSP in the family. NIPA1 mutations were rare in our population of patients with HSP, but can be found in patients with complex HSP. Epilepsy might be more common in SPG6 than in other forms of HSP because of a genetic risk factor closely linked to NIPA1.Keywords
This publication has 12 references indexed in Scilit:
- Recent advances in the genetics of spastic paraplegias.Current Neurology and Neuroscience Reports, 2008
- Clinical and genetic study of SPG6 mutation in a Chinese family with hereditary spastic paraplegiaJournal of the Neurological Sciences, 2008
- NIPA1 (SPG6) mutations are a rare cause of autosomal dominant spastic paraplegia in Europeneurogenetics, 2007
- Childhood-Onset Spastic Paraplegia With NIPA1 Gene MutationJournal of Child Neurology, 2006
- Novel SPG6 mutation p.A100T in a Japanese family with autosomal dominant form of hereditary spastic paraplegiaMovement Disorders, 2006
- Clinical and genetic study of a Brazilian family with spastic paraplegia (SPG6 locus)Movement Disorders, 2006
- A novel NIPA1 mutation associated with a pure form of autosomal dominant hereditary spastic paraplegianeurogenetics, 2005
- Distinct novel mutations affecting the same base in the NIPA1 gene cause autosomal dominant hereditary spastic paraplegia in two Chinese familiesHuman Mutation, 2005
- NIPA1 Gene Mutations Cause Autosomal Dominant Hereditary Spastic Paraplegia (SPG6)American Journal of Human Genetics, 2003
- CLASSIFICATION OF THE HEREDITARY ATAXIAS AND PARAPLEGIASThe Lancet, 1983