An update on the neurological short tandem repeat expansion disorders and the emergence of long-read sequencing diagnostics

SR Chintalaphani, SS Pineda, IW Deveson… - Acta Neuropathologica …, 2021 - Springer
Background Short tandem repeat (STR) expansion disorders are an important cause of
human neurological disease. They have an established role in more than 40 different …

Current state and future directions in the diagnosis of amyotrophic lateral sclerosis

M Vidovic, LH Müschen, S Brakemeier, G Machetanz… - Cells, 2023 - mdpi.com
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease characterized by
loss of upper and lower motor neurons, resulting in progressive weakness of all voluntary …

Comprehensive genetic diagnosis of tandem repeat expansion disorders with programmable targeted nanopore sequencing

I Stevanovski, SR Chintalaphani, H Gamaarachchi… - Science …, 2022 - science.org
More than 50 neurological and neuromuscular diseases are caused by short tandem repeat
(STR) expansions, with 37 different genes implicated to date. We describe the use of …

Increased frequency of repeat expansion mutations across different populations

K Ibañez, B Jadhav, M Zanovello, D Gagliardi… - Nature medicine, 2024 - nature.com
Repeat expansion disorders (REDs) are a devastating group of predominantly neurological
diseases. Together they are common, affecting 1 in 3,000 people worldwide with population …

Genetics and sex in the pathogenesis of amyotrophic lateral sclerosis (ALS): is there a link?

F Trojsi, G D'Alvano, S Bonavita… - International journal of …, 2020 - mdpi.com
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease with no known
cure. Approximately 90% of ALS cases are sporadic, although multiple genetic risk factors …

Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease

R Currò, N Dominik, S Facchini, E Vegezzi, R Sullivan… - Brain, 2024 - academic.oup.com
RFC1 disease, caused by biallelic repeat expansion in RFC1, is clinically heterogeneous in
terms of age of onset, disease progression and phenotype. We investigated the role of the …

Temporal order of clinical and biomarker changes in familial frontotemporal dementia

AM Staffaroni, M Quintana, B Wendelberger… - Nature medicine, 2022 - nature.com
Unlike familial Alzheimer's disease, we have been unable to accurately predict symptom
onset in presymptomatic familial frontotemporal dementia (f-FTD) mutation carriers, which is …

Amyotrophic lateral sclerosis in Southwestern and Eastern Finland

M Hanhisuanto, E Solje, M Jokela, JOT Sipilä - Neuroepidemiology, 2023 - karger.com
Introduction: The incidence of amyotrophic lateral sclerosis (ALS) worldwide is
approximately 1–2.6/1,000,000 and prevalence is 5–6/100,000. ALS has been suggested to …

Factors predicting disease progression in C9ORF72 ALS patients

J Mandrioli, E Zucchi, I Martinelli, L Van der Most… - Journal of …, 2023 - Springer
Objective To unveil clinical features, comorbidities, disease progression and prognostic
factors in a population-based cohort of ALS patients carrying C9ORF72 expansion (C9+ …

Unravelling the clinical spectrum and the role of repeat length in C9ORF72 repeat expansions

EL Van Der Ende, JL Jackson, A White… - Journal of Neurology …, 2021 - jnnp.bmj.com
Since the discovery of the C9orf72 repeat expansion as the most common genetic cause of
frontotemporal dementia (FTD) and amyotrophic lateral sclerosis, it has increasingly been …