Childhood-onset spastic paraplegia

Mutation of the NIPA1 gene discovered as cause of severe form of HSP with typically teenage onset.

To date (2006), 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.

J Child Neurol. 2006 Nov;21(11):974-7.

Childhood-onset spastic paraplegia with NIPA1 gene mutation.

Bien-Willner R, Sambuughin N, Holley H, Bodensteiner J, Sivakumar K.

Barrow Neurological Institute, Phoenix, AZ 85013, USA.