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

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.

SUBMITTER: Rainier S 

PROVIDER: S-EPMC1180617 | biostudies-literature | 2003 Oct

REPOSITORIES: biostudies-literature

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

Rainier Shirley S   Chai Jing-Hua JH   Tokarz Debra D   Nicholls Robert D RD   Fink John K JK  

American journal of human genetics 20030923 4

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  ...[more]

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