☆ 3.8 Article

Mutation in the senataxin gene found in a patient affected by familial ALS with juvenile onset and slow progression

AMYOTROPHIC LATERAL SCLEROSIS (2011)

Journal

AMYOTROPHIC LATERAL SCLEROSIS

Volume 12, Issue 3, Pages 228-230

Publisher

INFORMA HEALTHCARE

DOI: 10.3109/17482968.2011.566930

Keywords

Amyotrophic lateral sclerosis; senataxin; familial; Italian

Categories

Clinical Neurology

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Abstract

We report an Italian male with juvenile onset familial disease characterized by progressive weakness and wasting of four limbs and prolonged survival. Diagnostic work-up revealed the diffuse involvement of central and peripheral motor neurons. Genetic analysis revealed a L389S mutation in the senataxin (SETX) gene.

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