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Ann Neurol. 2005 Sep;58(3):423-9.

New locus for hereditary spastic paraplegia maps to chromosome 1p31.1-1p21.1.

Author information

1
Laboratorio di Neurogenetica, Centro Europeo Di Ricerca Sul Cervello-Istituto di Ricovero e cura a Carattere Scientifico Santa Lucia, Rome, Italy. a.orlacchio@hsantalucia.it

Abstract

We have updated the clinical description of a large Scottish pedigree, in which patients were affected by spastic paraplegia complicated by hearing impairment and persistent vomiting due to hiatal hernia inherited as an autosomal dominant trait. Using a genome-wide mapping approach, we identified a novel locus (SPG29) for this form of hereditary spastic paraplegia on chromosome 1p31.1-21.1 and narrowed it to 22.3cM between markers D1S2889 and D1S248. Sequencing of one candidate gene in the region (sorting nexin 7, SNX7), involved in several stages of intracellular trafficking and protein transport, showed no disease-causing mutations.

PMID:
16130112
DOI:
10.1002/ana.20590
[Indexed for MEDLINE]

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