ArticleJAMA neurology2013
Amyotrophic lateral sclerosis and spinocerebellar ataxia type 2 in a family with full CAG repeat expansions of ATXN2.
Article in JAMA neurology, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers, 2 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
26 citing papers in PubMed, 2 syntheses or guidelines pooled it, 38 citations in OpenAlex.
- Amyotrophic lateral sclerosis risk for spinocerebellar ataxia type 2 ATXN2 CAG repeat alleles: a meta-analysis.JAMA neurology · 2014Pooled it
- Pooled it
- Prevalence and impact of comorbidities in amyotrophic lateral sclerosis.Journal of neural transmission (Vienna, Austria : 1996) · 2026Review
- Amyotrophic lateral sclerosis -plus patient with an intermediate-lengthFrontiers in genetics · 2026Article
- Spinocerebellar ataxia type 2 followed by amyotrophic lateral sclerosis due to a pure CAG repeat expansion in ATXN2: a case report and literature review.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2025Review
- Penetrance and pleiotropy in ATXN2-related amyotrophic lateral sclerosis.European journal of human genetics : EJHG · 2025Article
- An observational study of pleiotropy and penetrance of amyotrophic lateral sclerosis associated with CAG-repeat expansion of ATXN2.European journal of human genetics : EJHG · 2025Observational
- The polyglutamine protein ATXN2: from its molecular functions to its involvement in disease.Cell death & disease · 2024Review
- Beyond C9orf72: repeat expansions and copy number variations as risk factors of amyotrophic lateral sclerosis across various populations.BMC medical genomics · 2024Review
- The role of autophagy-lysosomal pathway in motor neuron diseases.Biochemical Society transactions · 2022Review
- The Clinical and Polynucleotide Repeat Expansion Analysis ofFrontiers in neurology · 2022Article
- Phenotypic and molecular diversities of spinocerebellar ataxia type 2 in Japan.Journal of neurology · 2021Article
- Dilemma of multiple system atrophy and spinocerebellar ataxias.Journal of neurology · 2018Review
- The complex structure ofNeurology. Genetics · 2018Article
- Noncoding repeat expansions for ALS in Japan are associated with theNeurology. Genetics · 2018Article
- What causes amyotrophic lateral sclerosis?F1000Research · 2017Review
- Review
- Genetic analysis of ten common degenerative hereditary ataxia loci in patients with essential tremor.Parkinsonism & related disorders · 2015Article
- Ataxin-2 regulates RGS8 translation in a new BAC-SCA2 transgenic mouse model.PLoS genetics · 2015Article
- Frontotemporal dementia: a bridge between dementia and neuromuscular disease.Annals of the New York Academy of Sciences · 2015Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
10 authors at 5 institutions in 1 country.
Funding
Abstract
importanceA family with coexistence of spinocerebellar ataxia type 2 and amyotrophic lateral sclerosis (ALS) is described. OBSERVATIONS: Intermediate or full CAG repeat expansions of ATXN2 are associated with ALS. However, no coexistence of spinocerebellar ataxia type 2 and ALS in a family has been reported in the literature.We describe a 47-year-old woman with an 11-year history of ataxia and her paternal uncle with ALS who were evaluated at Columbia University Medical Center since July 2006. Both our patient with ataxia and her uncle with ALS have full pathological CAG repeat expansions of ATXN2. CONCLUSIONS AND RELEVANCE: The diverse clinical phenotypes of ATXN2 CAG expansions and their coexistence in a single family are highlighted. A clinician should consider the diagnosis of spinocerebellar ataxia type 2 when encountering a patient with ataxia and a family history of ALS.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.