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Article

The heterozygous deletion c.1509_1510delAG in exon 14 of FUS causes an aggressive childhood-onset ALS with cognitive impairment.

Neurobiology of aging - 1 Jul 2021

Lanteri Paola, Meola Irene, Canosa Antonio, De Marco Giovanni, Lomartire Annarosa, Rinaudo Maria Teresa, Albamonte Emilio, Sansone Valeria Ada, Lunetta Christian, Manera Umberto, Vasta Rosario, Moglia Cristina, Calvo Andrea, Origone Paola, Chiò Adriano, Mandich Paola

Abstract excerpt

We report a case of childhood-onset ALS with a FUS gene mutation presenting cognitive impairment and a rapid clinical progression. The patient, an 11-year-old girl, presented with right distal upper limb weakness and mild intellectual disability at the Griffith Mental Development Scales. The disease rapidly worsened and the patient became tetraplegic and bed-ridden 2 years after symptom onset. A c.1509_1510delAG...

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Identifiers

PMID: 33637330
DOI: 10.1016/j.neurobiolaging.2021.01.029

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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