ArticleBipolar disorders2013
C9ORF72 expansion in a family with bipolar disorder.
Article in Bipolar disorders, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers, 2 of them syntheses that pooled it.
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Who cites it
24 citing papers in PubMed, 2 syntheses or guidelines pooled it, 61 citations in OpenAlex.
- Bipolar Disorder and Manic-Like Symptoms in Alzheimer's, Vascular and Frontotemporal Dementia: A Systematic Review.Current neuropharmacology · 2023Pooled it
- Survival and Prognostic Factors in C9orf72 Repeat Expansion Carriers: A Systematic Review and Meta-analysis.JAMA neurology · 2020Pooled it
- Article
- Behavioral and psychological symptoms in neurodegenerative dementias: harbinger, follower, or constant collateral?The Egyptian journal of neurology, psychiatry and neurosurgery · 2022Article
- Exploring Signatures of Neurodegeneration in Early-Onset Older-Age Bipolar Disorder and Behavioral Variant Frontotemporal Dementia.Frontiers in neurology · 2021Article
- The carboxyl termini of RAN translated GGGGCC nucleotide repeat expansions modulate toxicity in models of ALS/FTD.Acta neuropathologica communications · 2020Article
- Bipolar Disorder Among Patients Diagnosed With Frontotemporal Dementia.The Journal of neuropsychiatry and clinical neurosciences · 2020Review
- Links Between the C9orf72 Repeat Expansion and Psychiatric Symptoms.Current neurology and neuroscience reports · 2019Review
- A review on shared clinical and molecular mechanisms between bipolar disorder and frontotemporal dementia.Progress in neuro-psychopharmacology & biological psychiatry · 2019Review
- Manic behavior and asymmetric right frontotemporal dementia from a novel progranulin mutation.Neuropsychiatric disease and treatment · 2018Article
- Update on the Epidemiology, Diagnosis, and Treatment of Mania in Older-Age Bipolar Disorder.Current psychiatry reports · 2017Review
- The Confluence of Psychiatric Symptoms and Neurodegenerative Disease: Impact on Genetic Counseling.Journal of genetic counseling · 2017Article
- Psychiatric disorders prior to amyotrophic lateral sclerosis.Annals of neurology · 2016Article
- High-resolution chromosome ideogram representation of recognized genes for bipolar disorder.Gene · 2016Article
- Screening for novel hexanucleotide repeat expansions at ALS- and FTD-associated loci.Neurology. Genetics · 2016Article
- The behavioural variant frontotemporal dementia (bvFTD) syndrome in psychiatry.Journal of neurology, neurosurgery, and psychiatry · 2016Review
- Expression of microRNAs in human post-mortem amyotrophic lateral sclerosis spinal cords provides insight into disease mechanisms.Molecular and cellular neurosciences · 2016Article
- Late life bipolar disorder evolving into frontotemporal dementia mimic.Neuropsychiatric disease and treatment · 2016Article
- Hair Cell Loss, Spiral Ganglion Degeneration, and Progressive Sensorineural Hearing Loss in Mice with Targeted Deletion of Slc44a2/Ctl2.Journal of the Association for Research in Otolaryngology : JARO · 2015Article
- Post-Mortem evaluation of amyloid-dopamine terminal positron emission tomography dementia classifications.Annals of neurology · 2015Article
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11 authors at 3 institutions in 1 country.
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Abstract
objectiveTo investigate the role in bipolar disorder of the C9ORF72 hexanucleotide repeat expansion responsible for frontotemporal lobe dementia and amyotrophic lateral sclerosis.
methodsEighty-nine subjects from a previously described panel of individuals with bipolar disorder ascertained for genetic studies were screened to detect expansion of the C9ORF72 repeat. One two-generation family with bipolar disorder and an expanded repeat was characterized in depth using molecular diagnostics, imaging, histopathology, and neurological and neuropsychological evaluation.
resultsOne proband, with the typical clinical presentation of bipolar disorder, carried an expanded C9ORF72 allele of heterogeneous length between 14 and 20 kilobases (kb) as assessed by Southern blot. The expanded allele was inherited from a parent with atypical, late onset clinical features of bipolar disorder, who subsequently progressed to frontotemporal lobe dementia. The expansion in peripheral blood of the parent ranged from 8.5 to 20 kb. Cultured lymphoblastoid cells from this parent exhibited a homogeneous expansion of only 8.5 kb.
conclusionsThe disease course in the two generations described here demonstrates that expansion of the C9ORF72 may be associated with a form of bipolar disorder that presents clinically with classic phenomenology and progression to neurodegenerative disease. The frequency in our bipolar disorder cohort was only 1%, indicating that C9ORF72 is not a major contributor to bipolar disorder. DNA from cultured cells may be biased towards shorter repeats and nonrepresentative of the endogenous C9ORF72 expansion.
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