Litcius/Paper detail

ALS in Finland

Hannu Laaksovirta, Jyrki Launes, Lilja Jansson, Bryan Traynor, Karri Kaivola, Pentti J. Tienari

2022Neurology Genetics22 citationsDOIOpen Access PDF

Abstract

Background and Objectives: hexanucleotide repeat expansion. Methods: A cohort of patients with motor neuron disease was recruited between 1993 and 2020 at the Helsinki University Hospital and 2 second-degree outpatient clinics in Helsinki. Finnish ancestry patients with ALS fulfilled the diagnosis according to the revised El Escorial criteria and the Awaji-criteria. Two categories of familial ALS (FALS) were used. A patient was defined FALS-A if at least 1 first- or second-degree family member had ALS, and FALS-NP, if family members had additional neurologic or psychiatric endophenotypes. Results: . Discussion: was also found among patients with sporadic ALS. The enrichment of these 2 variants likely contributes to the high incidence of ALS in Finland.

Topics & Concepts

Amyotrophic lateral sclerosisC9orf72CohortMedicinePediatricsInternal medicineFirst-degree relativesAge of onsetDiseaseFamily historyFrontotemporal dementiaDementiaAmyotrophic Lateral Sclerosis ResearchNeurogenetic and Muscular Disorders ResearchNeurological diseases and metabolism