title: Childhood-onset spastic paraplegia with NIPAL gene mutation.
abstract: Hereditary spastic paraplegia is a heterogeneous group of inherited neurodegenerative disorders in which the predominant clinical feature is gait disturbance owing to spasticity and weakness of the lower limbs. Autosomal dominant hereditary spastic paraplegia is the predominant form of the disorder. To date, 10 autosomal dominant hereditary spastic paraplegia gene loci and genes for 6 of them have been identified. Spastic paraplegia 6, with a typical teenage onset and considered to be one of the more severe forms of the disease, is due to mutations in the gene NIPA1. We report a childhood-onset, aggressive, spastic paraparesis in a North American family with a c.316G>A mutation of the NIPA1 gene, confirming c.316 as a mutational hot spot.
authors.affiliation: Barrow Neurological Institute, Phoenix, AZ 85013, USA.
authors.forename: Ricardo
authors.initials: R
authors.lastname: Bien-Willner
authors.forename: Nyamkhishig
authors.initials: N
authors.lastname: Sambuughin
authors.forename: Heather
authors.initials: H
authors.lastname: Holley
authors.forename: John
authors.initials: J
authors.lastname: Bodensteiner
authors.forename: Kumaraswamy
authors.initials: K
authors.lastname: Sivakumar
mesh_terms: D000328:Adult; D017668:Age of Onset; D000368:Aged; D000595:Amino Acid Sequence; D002648:Child; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000737:chemistry / Q000235:genetics*; D008875:Middle Aged; D008969:Molecular Sequence Data; D010375:Pedigree; D017354:Point Mutation; D017434:Protein Structure, Tertiary; D015419:Spastic Paraplegia, Hereditary / Q000235:genetics*
chemical_list: D008565:Membrane Proteins; C478824:NIPA1 protein, human