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Article

Exome sequencing is a useful diagnostic tool for complicated forms of hereditary spastic paraplegia

25 Feb 2013

Abstract excerpt

Hereditary spastic paraplegias constitute a heterogeneous group of neurodegenerative diseases encompassing pure and complicated forms, for which at least 52 loci and 31 causative genes have been identified. Although mutations in the SPAST gene explain approximately 40% of the pure autosomal dominant forms, molecular diagnosis can be challenging for the sporadic and recessive forms, which are often complicated and...

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PMID: 23438842
DOI: 10.1111/cge.12133

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