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Exon deletions of <i>SPG4</i> are a frequent cause of hereditary spastic paraplegia

10 Nov 2006

Abstract excerpt

BACKGROUND: Point mutations in SPG4, the gene encoding spastin, are a frequent cause of autosomal dominant hereditary spastic paraplegia (AD-HSP). However, standard methods for genetic analyses fail to detect exonic microdeletions. METHODS: 121 mutation-negative probands were screened for rearrangements in SPG4 by multiplex ligation-dependent probe amplification. RESULTS: 24 patients with 16 different...

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PMID: 17098887
DOI: 10.1136/jmg.2006.046425

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