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A 3-year clinical follow-up of adult patients with 3243A>G in mitochondrial DNA.

https://arctichealth.org/en/permalink/ahliterature82145
Source
Neurology. 2006 May 23;66(10):1470-5
Publication Type
Article
Date
May-23-2006
Author
Majamaa-Voltti K A M
Winqvist S.
Remes A M
Tolonen U.
Pyhtinen J.
Uimonen S.
Kärppä M.
Sorri M.
Peuhkurinen K.
Majamaa K.
Author Affiliation
Department of Internal Medicine, University of Oulu, Oulu, Finland. kirsi.majamaa-voltti@oulu.fi
Source
Neurology. 2006 May 23;66(10):1470-5
Date
May-23-2006
Language
English
Publication Type
Article
Keywords
Adult
Alleles
Blood Glucose - analysis
Cognition Disorders - genetics
DNA, Mitochondrial - genetics
Diabetes Mellitus - blood - genetics
Disease Progression
Electrocardiography, Ambulatory
Electroencephalography
Female
Finland - epidemiology
Follow-Up Studies
Hearing Loss, Sensorineural - genetics
Humans
Hypertrophy, Left Ventricular - genetics - ultrasonography
Lactates - blood
MELAS Syndrome - genetics - mortality
Male
Middle Aged
Mitochondria, Muscle - metabolism
Mosaicism
Neuropsychological Tests
Point Mutation
Pyruvates - blood
Abstract
OBJECTIVE: To follow the clinical course of patients with the mitochondrial DNA mutation 3243A>G for 3 years. METHODS: Thirty-three adult patients with the 3243A>G mutation entered a 3-year follow-up study. They were clinically evaluated annually, audiometry was performed, and samples were drawn for the analysis of blood chemistry and mutation heteroplasmy in leukocytes. Holter recording was performed three times during the follow-up and echocardiography, neuropsychological assessment, and quantitative EEG and brain imaging conducted at entry and after 3 years. RESULTS: The incidence of new neurologic events was low during the 3-year follow-up. Sensorineural hearing impairment (SNHI) progressed, left ventricular wall thickness increased, mean alpha frequency in the occipital and parietal regions decreased, and the severity of disease index (modified Rankin score) progressed significantly. The rate of SNHI progression correlated with mutation heteroplasmy in muscle. The increase in left ventricular wall thickness was seen almost exclusively in diabetic patients. Seven patients died during the follow-up, and they were generally more severely affected than those who survived. CONCLUSIONS: Significant changes in the severity of disease, sensorineural hearing impairment, left ventricular hypertrophy, and quantitative EEG were seen in adult patients with 3243A>G during the 3-year follow-up.
Notes
Comment In: Neurology. 2007 Jan 9;68(2):163-417210904
PubMed ID
16717204 View in PubMed
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Autopsy consent, brain collection, and standardized neuropathologic assessment of ADNI participants: the essential role of the neuropathology core.

https://arctichealth.org/en/permalink/ahliterature143709
Source
Alzheimers Dement. 2010 May;6(3):274-9
Publication Type
Article
Date
May-2010
Author
Nigel J Cairns
Lisa Taylor-Reinwald
John C Morris
Author Affiliation
Alzheimer's Disease Research Center, Washington University School of Medicine, St. Louis, MO 63110, USA. cairns@wustl.edu
Source
Alzheimers Dement. 2010 May;6(3):274-9
Date
May-2010
Language
English
Publication Type
Article
Keywords
Alzheimer Disease - pathology
Autopsy
Brain - pathology
Canada
Cognition Disorders - genetics - pathology
DNA-Binding Proteins - metabolism
Diagnostic Imaging
Humans
Neuropsychological Tests
Psychiatric Status Rating Scales
Retrospective Studies
Tissue Banks - statistics & numerical data
United States
Abstract
Our objectives are to facilitate autopsy consent, brain collection, and perform standardized neuropathologic assessments of all Alzheimer's Disease Neuroimaging Initiative (ADNI) participants who come to autopsy at the 58 ADNI sites in the USA and Canada.
Building on the expertise and resources of the existing Alzheimer's Disease Research Center (ADRC) at Washington University School of Medicine, St. Louis, MO, a Neuropathology Core (NPC) to serve ADNI was established with one new highly motivated research coordinator. The ADNI-NPC coordinator provides training materials and protocols to assist clinicians at ADNI sites in obtaining voluntary consent for brain autopsy in ADNI participants. Secondly, the ADNI-NPC maintains a central laboratory to provide uniform neuropathologic assessments using the operational criteria for the classification of AD and other pathologies defined by the National Alzheimer Coordinating Center (NACC). Thirdly, the ADNI-NPC maintains a state-of-the-art brain bank of ADNI-derived brain tissue to promote biomarker and multi-disciplinary clinicopathologic studies.
During the initial year of funding of the ADNI Neuropathology Core, there was notable improvement in the autopsy rate to 44.4%. In the most recent year of funding (September 1(st), 2008 to August 31(st) 2009), our autopsy rate improved to 71.5%. Although the overall numbers to date are small, these data demonstrate that the Neuropathology Core has established the administrative organization with the participating sites to harvest brains from ADNI participants who come to autopsy.
Within two years of operation, the Neuropathology Core has: (1) implemented a protocol to solicit permission for brain autopsy in ADNI participants at all 58 sites who die and (2) to send appropriate brain tissue from the decedents to the Neuropathology Core for a standardized, uniform, and state-of-the-art neuropathologic assessment. The benefit to ADNI of the implementation of the NPC is very clear. Prior to the establishment of the NPC in September 2007, there were 6 deaths but no autopsies in ADNI participants. Subsequent to the establishment of the Core there have been 17 deaths of ADNI participants and 10 autopsies. Hence, the autopsy rate has gone from 0% to 59%. The third major accomplishment is the detection of co-existent pathologies with AD in the autopsied cases. It is possible that these co-morbidities may contribute to any variance in ADNI data.
Notes
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PubMed ID
20451876 View in PubMed
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The benefits of apolipoprotein E epsilon4 screening to research.

https://arctichealth.org/en/permalink/ahliterature177997
Source
CMAJ. 2004 Oct 12;171(8):881
Publication Type
Article
Date
Oct-12-2004
Author
Serge Gauthier
Author Affiliation
Alzheimer's Disease Research Unit, McGill Centre for Studies in Aging, Verdun, Que. serge.gauthier@staff.mcgill.ca
Source
CMAJ. 2004 Oct 12;171(8):881
Date
Oct-12-2004
Language
English
Publication Type
Article
Keywords
Aged
Alzheimer Disease - genetics
Apolipoprotein E4
Apolipoproteins E - genetics
Canada
Cognition Disorders - genetics
Disease Progression
Genetic markers
Genetic Testing
Humans
Research
Notes
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Comment On: CMAJ. 2004 Oct 12;171(8):863-715477624
PubMed ID
15477627 View in PubMed
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Cerebral infarcts and cognitive performance: importance of location and number of infarcts.

https://arctichealth.org/en/permalink/ahliterature90519
Source
Stroke. 2009 Mar;40(3):677-82
Publication Type
Article
Date
Mar-2009
Author
Saczynski Jane S
Sigurdsson Sigurdur
Jonsdottir Maria K
Eiriksdottir Gudny
Jonsson Palmi V
Garcia Melissa E
Kjartansson Olafur
Lopez Oscar
van Buchem Mark A
Gudnason Vilmunder
Launer Lenore J
Author Affiliation
Division of Geriatric Medicine, Meyers Primary Care Institute, University of Massachusetts Medical School, Worcester, MA 01605, USA. jane.saczynski@umassmed.edu
Source
Stroke. 2009 Mar;40(3):677-82
Date
Mar-2009
Language
English
Publication Type
Article
Keywords
Aged
Cardiovascular Diseases - epidemiology
Cerebral Infarction - genetics - pathology - psychology
Cognition Disorders - genetics - pathology - psychology
Dementia - diagnosis - psychology
Female
Humans
Iceland - epidemiology
Magnetic Resonance Imaging
Male
Neuropsychological Tests
Risk factors
Abstract
BACKGROUND AND PURPOSE: Cerebral infarcts increase the risk for cognitive impairment. The relevance of location and number of infarcts with respect to cognitive function is less clear. METHODS: We studied the cross-sectional association between number and location of infarcts and cognitive performance in 4030 nondemented participants of the Age Gene/Environment Susceptibility-Reykjavik Study. Composite scores for memory, processing speed, and executive function were created from a neuropsychological battery. Subcortical, cortical, and cerebellar infarcts were identified on brain MRI. We performed linear regression analyses adjusted for demographic and vascular risk factors, depression, white matter lesions, and atrophy. RESULTS: Compared to participants with no infarcts, those with infarcts in multiple locations (n=287, 7%) had slower processing speed (beta=-0.19; P1 location is associated with poor performance in memory, processing speed, and executive function, independent of cardiovascular comorbidities, white matter lesions, and brain atrophy, suggesting that both the number and the distribution of infarcts jointly contribute to cognitive impairment.
Notes
Comment In: Stroke. 2009 Mar;40(3):667-919131649
Erratum In: Stroke. 2009 Apr;40(4):287
PubMed ID
19131654 View in PubMed
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The clinical spectrum of homozygous HOXA1 mutations.

https://arctichealth.org/en/permalink/ahliterature86633
Source
Am J Med Genet A. 2008 May 15;146A(10):1235-40
Publication Type
Article
Date
May-15-2008
Author
Bosley Thomas M
Alorainy Ibrahim A
Salih Mustafa A
Aldhalaan Hesham M
Abu-Amero Khaled K
Oystreck Darren T
Tischfield Max A
Engle Elizabeth C
Erickson Robert P
Author Affiliation
The Neuro-ophthalmology Division, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia. bosley-thomas@cooperhealth.edu
Source
Am J Med Genet A. 2008 May 15;146A(10):1235-40
Date
May-15-2008
Language
English
Publication Type
Article
Keywords
Abnormalities, Multiple - genetics - physiopathology
Adolescent
Adult
Cardiovascular Abnormalities - genetics
Cerebrovascular Disorders - genetics
Child
Child, Preschool
Cognition Disorders - genetics
Deafness - genetics
Family
Female
Genotype
Homeodomain Proteins - genetics
Homozygote
Humans
Indians, North American
Male
Musculoskeletal Abnormalities - genetics
Mutation
Nervous System Malformations - genetics
Ocular Motility Disorders - genetics
Phenotype
Saudi Arabia
Syndrome
Transcription Factors - genetics
Abstract
We describe nine previously unreported individuals from six families who have homozygous mutations of HOXA1 and either the Bosley-Salih-Alorainy syndrome (BSAS) or the Athabascan brainstem dysgenesis syndrome (ABDS). Congenital heart disease was present in four BSAS patients, two of whom had neither deafness nor horizontal gaze restriction, thus raising the possibility that cardiovascular malformations might be a clinically isolated, or relatively isolated, manifestation of homozygous HOXA1 mutations. Two ABDS probands had relatively mild mental retardation. These individuals blur the clinical distinctions between the BSAS and ABDS HOXA1 variants and broaden the phenotype and genotype of the homozygous HOXA1 mutation clinical spectrum.
PubMed ID
18412118 View in PubMed
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Cognitive endophenotypes inform genome-wide expression profiling in schizophrenia.

https://arctichealth.org/en/permalink/ahliterature275391
Source
Neuropsychology. 2016 Jan;30(1):40-52
Publication Type
Article
Date
Jan-2016
Author
Amanda B Zheutlin
Rachael W Viehman
Rebecca Fortgang
Jacqueline Borg
Desmond J Smith
Jaana Suvisaari
Sebastian Therman
Christina M Hultman
Tyrone D Cannon
Source
Neuropsychology. 2016 Jan;30(1):40-52
Date
Jan-2016
Language
English
Publication Type
Article
Keywords
Adult
Aged
Bipolar Disorder - genetics - psychology
Cognition
Cognition Disorders - genetics - psychology
Endophenotypes
Female
Finland
Gene Expression Profiling
Gene Expression Regulation
Genome-Wide Association Study
Humans
Leukocytes, Mononuclear
Male
Memory
Microarray Analysis
Middle Aged
RNA - analysis
Registries
Schizophrenia - genetics
Schizophrenic Psychology
Sweden
Twins - genetics - psychology
Abstract
We performed a whole-genome expression study to clarify the nature of the biological processes mediating between inherited genetic variations and cognitive dysfunction in schizophrenia.
Gene expression was assayed from peripheral blood mononuclear cells using Illumina Human WG6 v3.0 chips in twins discordant for schizophrenia or bipolar disorder and control twins. After quality control, expression levels of 18,559 genes were screened for association with the California Verbal Learning Test (CVLT) performance, and any memory-related probes were then evaluated for variation by diagnostic status in the discovery sample (N = 190), and in an independent replication sample (N = 73). Heritability of gene expression using the twin design was also assessed.
After Bonferroni correction (p
Notes
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PubMed ID
26710095 View in PubMed
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Estrogen receptor alpha and risk for cognitive impairment in postmenopausal women.

https://arctichealth.org/en/permalink/ahliterature82637
Source
Psychiatr Genet. 2006 Apr;16(2):85-8
Publication Type
Article
Date
Apr-2006
Author
Olsen Line
Rasmussen Henrik B
Hansen Thomas
Bagger Yu Z
Tankó László B
Qin Gerong
Christiansen Claus
Werge Thomas
Author Affiliation
Research Institute of Biological Psychiatry, Copenhagen University Hospital, Roskilde, Denmark.
Source
Psychiatr Genet. 2006 Apr;16(2):85-8
Date
Apr-2006
Language
English
Publication Type
Article
Keywords
Aged
Case-Control Studies
Cognition Disorders - genetics
Denmark
Deoxyribonucleases, Type II Site-Specific
Estrogen Receptor alpha - genetics
Female
Genotype
Hormone Replacement Therapy
Humans
Polymorphism, Restriction Fragment Length
Postmenopause - psychology
Psychological Tests
Abstract
The estrogen receptor alpha (ESR1) gene has been implicated in the process of cognitive impairment in elderly women. In a paired case-control study, we tested whether two ESR1 gene polymorphisms (the XbaI and PvuII sites) are risk factors for cognitive impairment as measured by the six-item Orientation-Memory-Concentration test in postmenopausal Danish women. Hormone replacement therapy, age and executive cognitive ability were examined as covariates for ESR1 gene effects on cognitive impairment. The XbaI polymorphism showed a marginal effect on cognitive abilities (P=0.054) when adjusted for executive cognitive ability. Using a dominant genetic model for the X allele, we found an elevated risk (executive cognitive ability adjusted P=0.033) for cognitive impairment. Hormone replacement therapy also had a borderline effect on cognitive ability (P=0.049) and this effect was reflected in executive cognitive ability. These data support that the ESR1 gene variants affect cognitive functioning in postmenopausal women.
PubMed ID
16538187 View in PubMed
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Familial dyslexia: neurocognitive and genetic correlation in a large Finnish family.

https://arctichealth.org/en/permalink/ahliterature188582
Source
Dev Med Child Neurol. 2002 Sep;44(9):580-6
Publication Type
Article
Date
Sep-2002
Author
Jaana Nopola-Hemmi
Birgitta Myllyluoma
Arja Voutilainen
Seija Leinonen
Juha Kere
Timo Ahonen
Author Affiliation
Department of Paediatric Neurology, Hospital for Children and Adolescents, University of Helsinki, Finland. jaana.nopola-hemmi@hus.fi
Source
Dev Med Child Neurol. 2002 Sep;44(9):580-6
Date
Sep-2002
Language
English
Publication Type
Article
Keywords
Adult
Child
Cognition Disorders - genetics
Dyslexia - genetics - physiopathology
Female
Finland
Humans
Language Disorders - genetics
Male
Memory
Neuropsychological Tests
Pedigree
Abstract
Neuropsychological findings of individuals with dyslexia (n=24) from a large, three-generation Finnish family are presented. We have previously performed whole genome linkage scanning in this family and found that dyslexia in this kindred segregates with a single locus in the pericentromeric area of chromosome 3. Those included in the analyses were carefully evaluated for general cognitive ability, reading and spelling skills, and reading-related neurocognitive skills. The neurocognitive type of dyslexia segregating in this family consisted of deficits in phonological awareness, verbal short-term memory, and rapid naming. Severe dyslexia also seemed to be connected with a general language difficulty and was most common in the eldest generation.
PubMed ID
12227612 View in PubMed
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Gene-based analysis of regionally enriched cortical genes in GWAS data sets of cognitive traits and psychiatric disorders.

https://arctichealth.org/en/permalink/ahliterature126517
Source
PLoS One. 2012;7(2):e31687
Publication Type
Article
Date
2012
Author
Kari M Ersland
Andrea Christoforou
Christine Stansberg
Thomas Espeseth
Manuel Mattheisen
Morten Mattingsdal
Gudmundur A Hardarson
Thomas Hansen
Carla P D Fernandes
Sudheer Giddaluru
René Breuer
Jana Strohmaier
Srdjan Djurovic
Markus M Nöthen
Marcella Rietschel
Astri J Lundervold
Thomas Werge
Sven Cichon
Ole A Andreassen
Ivar Reinvang
Vidar M Steen
Stephanie Le Hellard
Author Affiliation
Dr E Martens Research Group for Biological Psychiatry, Department of Clinical Medicine, University of Bergen, Bergen, Norway.
Source
PLoS One. 2012;7(2):e31687
Date
2012
Language
English
Publication Type
Article
Keywords
Adolescent
Adult
Aged
Animals
Bipolar Disorder - genetics
Case-Control Studies
Cerebral Cortex - metabolism
Cognition - physiology
Cognition Disorders - genetics
Female
Frontal Lobe - pathology
Genome-Wide Association Study
Humans
Male
Mental Disorders - genetics
Middle Aged
Models, Genetic
Norway
Occipital Lobe - pathology
Rats
Schizophrenia - genetics
Temporal Lobe - pathology
Abstract
Despite its estimated high heritability, the genetic architecture leading to differences in cognitive performance remains poorly understood. Different cortical regions play important roles in normal cognitive functioning and impairment. Recently, we reported on sets of regionally enriched genes in three different cortical areas (frontomedial, temporal and occipital cortices) of the adult rat brain. It has been suggested that genes preferentially, or specifically, expressed in one region or organ reflect functional specialisation. Employing a gene-based approach to the analysis, we used the regionally enriched cortical genes to mine a genome-wide association study (GWAS) of the Norwegian Cognitive NeuroGenetics (NCNG) sample of healthy adults for association to nine psychometric tests measures. In addition, we explored GWAS data sets for the serious psychiatric disorders schizophrenia (SCZ) (n = 3 samples) and bipolar affective disorder (BP) (n = 3 samples), to which cognitive impairment is linked.
At the single gene level, the temporal cortex enriched gene RAR-related orphan receptor B (RORB) showed the strongest overall association, namely to a test of verbal intelligence (Vocabulary, P = 7.7E-04). We also applied gene set enrichment analysis (GSEA) to test the candidate genes, as gene sets, for enrichment of association signal in the NCNG GWAS and in GWASs of BP and of SCZ. We found that genes differentially expressed in the temporal cortex showed a significant enrichment of association signal in a test measure of non-verbal intelligence (Reasoning) in the NCNG sample.
Our gene-based approach suggests that RORB could be involved in verbal intelligence differences, while the genes enriched in the temporal cortex might be important to intellectual functions as measured by a test of reasoning in the healthy population. These findings warrant further replication in independent samples on cognitive traits.
Notes
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