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Article

A novel <i>ALS2</i> splice-site mutation in a Cypriot juvenile-onset primary lateral sclerosis family

2 Jan 2009

Abstract excerpt

BACKGROUND: Primary lateral sclerosis (PLS) is a rare neurodegenerative disease that affects the upper motor neurons of the CNS. Juvenile-onset PLS (JPLS) is inherited in an autosomal recessive mode and is also found in sporadic cases. A consanguineous Cypriot family with three affected individuals presenting with JPLS was identified and studied. METHODS: Patients were clinically evaluated and samples were taken...

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PMID: 19122027
DOI: 10.1212/01.wnl.0000338530.77394.60

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