Journal
AMERICAN JOURNAL OF HUMAN GENETICS
Volume 73, Issue 4, Pages 967-971Publisher
CELL PRESS
DOI: 10.1086/378817
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Funding
- NICHD NIH HHS [R01 HD031491, HD31491] Funding Source: Medline
- NIEHS NIH HHS [ES10631, R01 ES010631] Funding Source: Medline
- NINDS NIH HHS [R01NS33645, R01NS38713, R01NS36177] Funding Source: Medline
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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.
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