Determining the incidence of familiality in ALS: A study of temporal trends in Ireland from 1994 to 2016

Neurology. Genetics
Marie RyanOrla Hardiman

Abstract

To assess temporal trends in familial amyotrophic lateral sclerosis (FALS) incidence rates in an Irish population and to determine factors influencing FALS ascertainment. Population-based data collected over 23 years, using the Irish amyotrophic lateral sclerosis (ALS) register and DNA biobank, were analyzed and age-standardized rates of FALS and associated familial neuropsychiatric endophenotypes were identified. Between 1994 and 2016, 269 patients with a family history of ALS from 197 unique families were included on the register. Using stringent diagnostic criteria for FALS, the mean age-standardized FALS incidence rate for the study period was 11.1% (95% confidence interval [CI], 8.8-13.4). The FALS incidence rate increased steadily from 5.2% in 1994 to 19.1% in 2016, an annual increase of 0.7% (95% CI, 0.5-0.9, p < 0.0001). Inclusion of the presence of neuropsychiatric endophenotypes within kindreds increased the FALS incidence rate to 30%. The incidence of FALS in newly diagnosed individuals from known families increased significantly with time, accounting for 50% of all FALS diagnoses by 2016. The mean annual rate of recategorization from "sporadic ALS" to "FALS" was 3% (95% CI, 2.6-3.8). The true population-based rate o...Continue Reading

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Citations

Nov 21, 2018·Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration
Jul 23, 2019·JAMA Neurology·Marie RyanOrla Hardiman
Sep 5, 2020·Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration·Malan JohansenMaria Skaalum Petersen
Mar 28, 2019·Frontiers in Neuroscience·Elisabetta ZucchiJessica Mandrioli
Mar 8, 2019·Neurology. Genetics·Stefan M PulstMassimo Pandolfo
Jan 9, 2021·European Journal of Human Genetics : EJHG·Rebecca BorgRuben J Cauchi
Nov 17, 2020·Frontiers in Neuroscience·Giovanna MorelloSebastiano Cavallaro
Jun 3, 2021·International Journal of Molecular Sciences·Valentina La CognataSebastiano Cavallaro
Nov 10, 2018·Lancet Neurology·Orla Hardiman

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Methods Mentioned

BETA
PCR
electrophoresis

Software Mentioned

SPSS Statistics
Gene Mapper

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