juvenile ALS

A previously unknown mutation in the SPTLC2 gene was identified in two patients who developed juvenile-onset amyotrophic lateral sclerosis (ALS), a study reports. The mutation significantly increased the production of certain types of fat-like molecules called sphingolipids, resulting in early-onset muscle weakness, progressive motor impairment, and involuntary tongue movements.

Amyotrophic lateral sclerosis (ALS) type 4 — a juvenile and slowly progressive form of the neurological disease, called ALS4 — is driven by abnormal mechanisms in both the central nervous system and the immune system, a new study reports. In particular, patients with this condition have increased levels of inflammatory…

A new mutation in the FUS gene, which results in a shorter version of the FUS protein that cannot enter the cell nucleus to work as it should, may cause an aggressive from of juvenile amyotrophic lateral sclerosis (ALS), the case of an adolescent girl shows. The…

When amyotrophic lateral sclerosis (ALS) symptoms emerge during adolescence, mutations in the FUS gene are likely to blame, findings from a case report suggest. Mutations in this gene also are the cause of some adult-onset ALS cases. However, FUS-associated ALS is more aggressive in children in whom these…

A previously unknown mutation in the BICD2 gene caused juvenile amyotrophic lateral sclerosis (ALS) in a Chinese woman in her 20s, according to a case study. The gene had previously been linked to other neurodegenerative conditions, prompting researchers to believe that the mutation can give rise to ALS when other…