ArticleArchives of neurology2012
Characterization of a family with c9FTD/ALS associated with the GGGGCC repeat expansion in C9ORF72.
Article in Archives of neurology, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers, 3 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
The trial behind it
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
15 citing papers in PubMed, 3 syntheses or guidelines pooled it, 17 citations in OpenAlex.
- The Cerebellum in Frontotemporal Dementia: a Meta-Analysis of Neuroimaging Studies.Neuropsychology review · 2019Pooled it
- Atypical parkinsonism in C9orf72 expansions: a case report and systematic review of 45 cases from the literature.Journal of neurology · 2016Pooled it
- Pooled it
- Synaptic Proteostasis in Health and Disease.Journal of neurochemistry · 2026Review
- Intrafamilial Phenotypic Variability in theFrontiers in psychology · 2018Article
- C9ORF72 repeat expansions in Chinese patients with Parkinson's disease and multiple system atrophy.Journal of neural transmission (Vienna, Austria : 1996) · 2016Article
- C9ORF72 intermediate repeat expansion in patients affected by atypical parkinsonian syndromes or Parkinson's disease complicated by psychosis or dementia in a Sardinian population.Journal of neurology · 2015Article
- Global investigation and meta-analysis of the C9orf72 (G4C2)n repeat in Parkinson disease.Neurology · 2014Article
- Parkinsonian syndrome in familial frontotemporal dementia.Parkinsonism & related disorders · 2014Review
- C9ORF72 mutations in neurodegenerative diseases.Molecular neurobiology · 2014Review
- ALS-FTD complex disorder due to C9ORF72 gene mutation: description of first Polish family.European neurology · 2014Article
- C9ORF72 hexanucleotide repeats in behavioral and motor neuron disease: clinical heterogeneity and pathological diversity.American journal of neurodegenerative disease · 2014Review
- A review of quality of life after predictive testing for and earlier identification of neurodegenerative diseases.Progress in neurobiology · 2013Review
- C9ORF72 expansion in a family with bipolar disorder.Bipolar disorders · 2013Article
- How do C9ORF72 repeat expansions cause amyotrophic lateral sclerosis and frontotemporal dementia: can we learn from other noncoding repeat expansion disorders?Current opinion in neurology · 2012Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
12 authors at 4 institutions in 1 country.
Funding
Abstract
backgroundThe hexanucleotide repeat in the chromosome 9 open reading frame 72 (C9ORF72) gene was recently discovered as the underlying genetic cause of many families with frontotemporal dementia (FTD) and/or amyotrophic lateral sclerosis (ALS) linked to chromosome 9 (c9FTD/ALS). We report the clinical, neuropsychologic, and neuroimaging findings of a family with the C9ORF72 mutation and clinical diagnoses bridging the FTD, parkinsonism, and ALS spectrum.
objectiveTo characterize the antemortem characteristics of a family with c9FTD/ALS associated with the GGGGCC repeat expansion in C9ORF72.
designClinical series.
settingTertiary care academic medical center. PATIENTS The members of a family affected by the mutation with features of FTD and/or ALS.
main outcome measuresClinical, neuropsychologic, and neuroimaging assessments.
resultsAll 3 examined subjects had the hexanucleotide expansion detected in C9ORF72. All had personality/behavioral changes early in the course of the disease. One case had levodopa-unresponsive parkinsonism, and 1 had ALS. Magnetic resonance imaging showed symmetric bilateral frontal, temporal, insular, and cingulate atrophy.
conclusionsThis report highlights the clinical and neuroimaging characteristics of a family with c9FTD/ALS. Further studies are needed to better understand the phenotypical variability and the cliniconeuroimaging-neuropathologic correlations.
Indexed as
Identifiers
What OpenQuestion holds
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.