Devenney EM, Ahmed RM, Halliday G, Piguet O, Kiernan MC, Hodges JR.
Psychiatric disorders in C9orf72 kindreds: Study of 1,414 family members.
Neurology. 2018 Oct 16;91(16):e1498-e1507. Epub 2018 Sep 26
PubMed.
I think this study is remarkable and credible. Our group has been interested in co-segregation of schizophrenia and other diseases in families. We surveyed DNA from our stored samples collected from patients with schizophrenia and found a handful with heritable C9ORF72 expansions (Watson et al., 2016). Interestingly, those patients had florid psychoses but there was no history suggestive of FTD/ALS. Over 20 years ago, several groups had reported increased prevalence of tri-nucleotide repeat expansions in schizophrenia, fueling speculation about the hypothesis that subtle neurodegenerative processes can occur in schizophrenia. I am very interested in collaborating with FTD/ALS researchers interested in this phenomena.
References:
Watson A, Pribadi M, Chowdari K, Clifton S, Joel Wood, Miller BL, Coppola G, Nimgaonkar V.
C9orf72 repeat expansions that cause frontotemporal dementia are detectable among patients with psychosis.
Psychiatry Res. 2016 Jan 30;235:200-2. Epub 2015 Dec 8
PubMed.
We noted in a study by Geser et al., 2010, that pathological 43-kDa transactivation response DNA-binding protein (TDP-43) was present to a variable extent in the postmortem brains of 29 percent of longitudinally followed older (>age 65) schizophrenia patients, but also in 29 percent older adults without severe mental illness over age 65. The similar findings of TDP-43 pathology in elderly patients with severe mental illness and controls suggest common age-dependent TDP-43 changes in limbic brain areas. These data provide an age-related baseline for the development of whole-brain pathological TDP-43 evolution schemata.
References:
Geser F, Robinson JL, Malunda JA, Xie SX, Clark CM, Kwong LK, Moberg PJ, Moore EM, Van Deerlin VM, Lee VM, Arnold SE, Trojanowski JQ.
Pathological 43-kDa transactivation response DNA-binding protein in older adults with and without severe mental illness.
Arch Neurol. 2010 Oct;67(10):1238-50.
PubMed.
Comments
University of Pittsburgh School of Medicine
I think this study is remarkable and credible. Our group has been interested in co-segregation of schizophrenia and other diseases in families. We surveyed DNA from our stored samples collected from patients with schizophrenia and found a handful with heritable C9ORF72 expansions (Watson et al., 2016). Interestingly, those patients had florid psychoses but there was no history suggestive of FTD/ALS. Over 20 years ago, several groups had reported increased prevalence of tri-nucleotide repeat expansions in schizophrenia, fueling speculation about the hypothesis that subtle neurodegenerative processes can occur in schizophrenia. I am very interested in collaborating with FTD/ALS researchers interested in this phenomena.
References:
Watson A, Pribadi M, Chowdari K, Clifton S, Joel Wood, Miller BL, Coppola G, Nimgaonkar V. C9orf72 repeat expansions that cause frontotemporal dementia are detectable among patients with psychosis. Psychiatry Res. 2016 Jan 30;235:200-2. Epub 2015 Dec 8 PubMed.
View all comments by Vishwajit NimgaonkarUniversity of Pennsylvania
We noted in a study by Geser et al., 2010, that pathological 43-kDa transactivation response DNA-binding protein (TDP-43) was present to a variable extent in the postmortem brains of 29 percent of longitudinally followed older (>age 65) schizophrenia patients, but also in 29 percent older adults without severe mental illness over age 65. The similar findings of TDP-43 pathology in elderly patients with severe mental illness and controls suggest common age-dependent TDP-43 changes in limbic brain areas. These data provide an age-related baseline for the development of whole-brain pathological TDP-43 evolution schemata.
References:
Geser F, Robinson JL, Malunda JA, Xie SX, Clark CM, Kwong LK, Moberg PJ, Moore EM, Van Deerlin VM, Lee VM, Arnold SE, Trojanowski JQ. Pathological 43-kDa transactivation response DNA-binding protein in older adults with and without severe mental illness. Arch Neurol. 2010 Oct;67(10):1238-50. PubMed.
View all comments by John TrojanowskiMake a Comment
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