Pathological heterogeneity in amyotrophic lateral sclerosis with FUS mutations: two distinct patterns correlating with disease severity and mutation.

Journal article

Mutations in the gene encoding the fused in sarcoma (FUS) protein are responsible for ~3% of familial amyotrophic lateral sclerosis (ALS) and <1% of sporadic ALS (ALS-FUS). Descriptions of the associated neuropathology are few and largely restricted to individual case reports. To better define the neuropathology associated with FUS mutations, we have undertaken a detailed comparative analysis of six cases of ALS-FUS that include sporadic and familial cases, with both juvenile and adult ons...

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Authors: Mackenzie, I; Ansorge, O; Strong, M; Bilbao, J; Zinman, L

• Publication status: Published
• Journal: Acta neuropathologica
• Volume: 122
• Issue: 1
• Pages: 87-98
• Publication date: 2011-07-01
• DOI: 10.1007/s00401-011-0838-7
• EISSN: 1432-0533
• ISSN: 0001-6322
• Language: English
• Keywords: Adolescent; Mutation; Motor Neurons; Medulla Oblongata; Young Adult; RNA-Binding Protein FUS; Neuroglia; Adult; Middle Aged; Spinal Cord; Amyotrophic Lateral Sclerosis; Humans; Severity of Illness Index; Inclusion Bodies; Female; Male; Motor Cortex