Juvenile ALS with basophilic inclusions is a FUS proteinopathy with FUS mutations.

ABSTRACT:

Background

Juvenile amyotrophic lateral sclerosis (ALS) with basophilic inclusions is a form of ALS characterized by protein deposits in motor neurons that are morphologically and tinctorially distinct from those of classic sporadic ALS. The nosologic position of this type of ALS in the molecular pathologic and genetic classification of ALS is unknown.

Methods

We identified neuropathologically 4 patients with juvenile ALS with basophilic inclusions and tested the hypothesis that specific RNA binding protein pathology may define this type of ALS. Immunohistochemical findings prompted us to sequence the fused in sarcoma (FUS) gene.

Results

Motor symptoms began between ages 17 and 22. Disease progression was rapid without dementia. No family history was identified. Basop

SUBMITTER: Baumer D 

PROVIDER: S-EPMC2931770 | biostudies-literature | 2010 Aug

REPOSITORIES: biostudies-literature