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Am J Hum Genet. 2003 Oct;73(4):967-71. Epub 2003 Sep 23.

NIPA1 gene mutations cause autosomal dominant hereditary spastic paraplegia (SPG6).

Author information

1
Department of Neurology, University of Michigan, Ann Arbor, MI 48109, USA.

Abstract

The hereditary spastic paraplegias (HSPs) are genetically heterogeneous disorders characterized by progressive lower-extremity weakness and spasticity. The molecular pathogenesis is poorly understood. We report discovery of a dominant negative mutation in the NIPA1 gene in a kindred with autosomal dominant HSP (ADHSP), linked to chromosome 15q11-q13 (SPG6 locus); and precisely the same mutation in an unrelated kindred with ADHSP that was too small for meaningful linkage analysis. NIPA1 is highly expressed in neuronal tissues and encodes a putative membrane transporter or receptor. Identification of the NIPA1 function and ligand will aid an understanding of axonal neurodegeneration in HSP and may have important therapeutic implications.

PMID:
14508710
PMCID:
PMC1180617
DOI:
10.1086/378817
[Indexed for MEDLINE]
Free PMC Article

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