Family history of frontotemporal lobar degeneration in Asia – an international multi-center research

2014 ◽  
Vol 26 (12) ◽  
pp. 1967-1971 ◽  
Author(s):  
Ryuji Fukuhara ◽  
Amitabha Ghosh ◽  
Jong-Ling Fuh ◽  
Jacqueline Dominguez ◽  
Paulus Anam Ong ◽  
...  
Keyword(s):  
Family History ◽  
Neurodegenerative Diseases ◽  
Motor Neuron ◽  
Frontotemporal Dementia ◽  
Frontotemporal Lobar Degeneration ◽  
Positive Family History ◽  
Family Histories ◽  
The Family ◽  
History Of ◽  
Center Research

ABSTRACTBackground:Previous studies in western countries have shown that about 30%–50% of patients with frontotemporal lobar degeneration (FTLD) have a positive family history, whereas the few epidemiological studies on FTLD done in Asia reported much lower frequencies. It is not clear the reason why the frequencies of FTLD with positive family history were lower in Asia. Furthermore, these findings were not from studies focused on family history. Therefore, it is necessary to conduct further studies on the family history of FTLD in Asia. This international multi-center research aims to investigate the family histories in patients with FTLD and related neurodegenerative diseases such as progressive supranuclear palsy (PSP), corticobasal syndrome (CBS), and motor neuron diseases in a larger Asian cohort.Methods:Participants were collected from five countries: India, Indonesia, Japan, Taiwan, and Philippines. All patients were diagnosed with behavioral variant frontotemporal dementia (bvFTD), semantic dementia (SD), progressive non-fluent aphasia (PA), frontotemporal dementia with motor neuron disease (FTD/MND), PSP, and corticobasal degeneration (CBD) according to international consensus criteria. Family histories of FTLD and related neurodegenerative diseases were investigated in each patient.Results:Ninety-one patients were included in this study. Forty-two patients were diagnosed to have bvFTD, two patients had FTD/MND, 22 had SD, 15 had PA, one had PA/CBS, five had CBS and four patients had PSP. Family history of any FTLD spectrum disorder was reported in 9.5% in bvFTD patients but in none of the SD or PA.Conclusion:In contrast to patients of the western countries, few Asian FTLD patients have positive family histories of dementia.

HEREDITARY AND ENVIRONMENTAL FACTORS IN THE PATHOGENESIS OF RHEUMATIC FEVER

PEDIATRICS ◽  
1957 ◽  
Vol 19 (5) ◽  
pp. 908-915
Author(s):  
Eugene F. Diamond
Keyword(s):  
Family History ◽  
Rheumatic Fever ◽  
Autosomal Recessive ◽  
Positive Family History ◽  
Recessive Gene ◽  
Environmental Groups ◽  
Environmental Group ◽  
The Family ◽  
History Of ◽  
Unfavorable Environmental Factor

A study of cases of rheumatic fever admitted to La Rabida Sanitarium over a 5-year period was carried out to evaluate heredity and environment as etiologic factors in rheumatic disease. The incidence of rheumatic fever was shown to be higher in families where one or both parents were known to have a positive family history of rheumatic fever. The incidence of rheumatic fever was compared in environmental groups. A totally unfavorable environment was shown to increase the incidence of rheumatic fever. No single unfavorable environmental factor changed the incidence of rheumatic fever. The incidence of rheumatic fever in each environmental group was higher when there was a positive family history for rheumatic fever, indicating an hereditary factor in the family incidence of rheumatic fever. Analysis of the various mating types in the families with a positive rheumatic trait was carried out. Agreement with a simple autosomal recessive gene inheritance was obtained in families where both parents had a definite family history, but no agreement was obtained in cases where only one parent gave a positive family history.

scholarly journals Surveillance survey of family history in children with neural tube defects

2017 ◽  
Vol 19 (6) ◽  
pp. 690-695 ◽  
Author(s):  
Esther B. Dupépé ◽  
Daxa M. Patel ◽  
Brandon G. Rocque ◽  
Betsy Hopson ◽  
Anastasia A. Arynchyna ◽  
...  
Keyword(s):  
Risk Factors ◽  
Family History ◽  
Neural Tube ◽  
Neural Tube Defects ◽  
Positive Family History ◽  
Cns Disorders ◽  
Paternal Lineage ◽  
First Degree Relatives ◽  
The Family ◽  
History Of

OBJECTIVE Although there are known risk factors for the development of neural tube defects (NTDs), little is known regarding the role of family history. The authors' goal in this study is to describe the family history in their population of patients with NTDs. METHODS Surveys were completed for 254 patients who were accompanied by their biological mother during their annual visit to the multidisciplinary Spina Bifida Clinic at Children's of Alabama. An NTD has been diagnosed in all patients who are seen in this clinic (myelomeningocele, lipomeningocele, split cord malformation, and congenital dermal sinus tract). Each mother answered questions regarding known NTD risk factors and their pregnancy, as well as the family history of NTDs, other CNS disorders, and birth defects. RESULTS The overall prevalence of family history of NTDs in children with an NTD was 16.9% (n = 43), of which 3.1% (n = 8) were in first-degree relatives. In patients with myelomeningocele, 17.7% (n = 37) had a positive family history for NTDs, with 3.8% in first-degree relatives. Family history in the paternal lineage for all NTDs was 8.7% versus 10.6% in the maternal lineage. Twenty-two patients (8.7%) had a family history of other congenital CNS disorders. Fifteen (5.9%) had a family history of Down syndrome, 12 (4.7%) had a family history of cerebral palsy, and 13 (5.1%) patients had a family history of clubfoot. Fourteen (5.5%) had a family history of cardiac defect, and 13 (5.1%) had a family history of cleft lip or palate. CONCLUSIONS The family history of NTDs was 16.9% in children with NTD without a difference between maternal and paternal lineage. This high rate of positive family history suggests that genetics and epigenetics may play a larger role in the pathogenesis of NTD in the modern era of widespread folate supplementation.

scholarly journals Outcomes of Kawasaki Disease in Families

2020 ◽  
Vol 2 (5) ◽  
Author(s):  
Toshimasa Nakada
Keyword(s):  
Family History ◽  
Kawasaki Disease ◽  
Rescue Therapy ◽  
Positive Family History ◽  
Ivig Therapy ◽  
Therapy Resistance ◽  
Ivig Resistance ◽  
The Family ◽  
History Of ◽  
Acute Phase Treatment

An epidemiological study showed that a positive family history of Kawasaki disease (KD) was a risk factor for intravenous immunoglobulin (IVIG) therapy resistance, coronary artery lesions (CALs), and KD recurrence. However, real-world outcomes of KD patients with a family history remain unclear. The objective of this study was to elucidate the outcomes of KD patients with a family history in the era of 2 g/kg IVIG therapy. This retrospective study included data from 201 KD patients who underwent acute-phase treatment from January 2009 to June 2020, with 184 (91.5%) receiving 2 g/kg IVIG therapy. The patients were divided into 13 (family group) with and 188 (nonfamily group) without a family history of KD. The rates of IVIG resistance (8.3% vs. 22.1%, P = 0.315), rescue therapy (8.3% vs. 12.8%, P = 1.000), CALs (0.0% vs. 2.7%, P = 1.000), and KD recurrence (0.0% vs. 3.2%, P = 1.000) were similar between the family and nonfamily groups.

scholarly journals Relationship between neuropsychiatric disorders and cognitive and behavioural change in MND

2019 ◽  
Vol 91 (3) ◽  
pp. 245-253 ◽  
Author(s):  
Caroline A McHutchison ◽  
Danielle Jane Leighton ◽  
Andrew McIntosh ◽  
Elaine Cleary ◽  
Jon Warner ◽  
...  
Keyword(s):  
Cognitive Impairment ◽  
Family History ◽  
Motor Neuron ◽  
Motor Neuron Disease ◽  
Frontotemporal Dementia ◽  
Mood Disorders ◽  
Behavioural Change ◽  
Neuropsychiatric Disorders ◽  
Neuropsychiatric Disorder ◽  
History Of

ObjectiveIn this population-based study, we aimed to determine whether neuropsychiatric history, medication or family history of neuropsychiatric disorders predicted cognitive and/or behavioural impairment in motor neuron disease (MND).MethodsPeople with MND (pwMND) on the Scottish Clinical, Audit, Research and Evaluation of MND (CARE-MND) register, diagnosed from January 2015 to January 2018, with cognitive and/or behavioural data measured using the Edinburgh Cognitive and Behavioural ALS Screen were included. Data were extracted on patient neuropsychiatric, medication and family history of neuropsychiatric disorders. We identified patients with cognitive impairment (motor neuron disease with cognitive impairment (MNDci)), behavioural impairment (motor neuron disease with behavioural impairment (MNDbi), both (motor neuron disease with cognitive and behavioural impairment (MNDcbi)) or motor neuron disease–frontotemporal dementia (MND-FTD).ResultsData were available for 305 pwMND (mean age at diagnosis=62.26 years, SD=11.40), of which 60 (19.7%) had a neuropsychiatric disorder. A family history of neuropsychiatric disorders was present in 36/231 (15.58%) of patients. Patient premorbid mood disorders were associated with increased apathy (OR=2.78, 95% CI 1.083 to 7.169). A family history of any neuropsychiatric disorder was associated with poorer visuospatial scores, MNDbi (OR=3.14, 95% CI 1.09 to 8.99) and MND-FTD (OR=5.08, 95% CI 1.26 to 20.40). A family history of mood disorders was associated with poorer overall cognition (exp(b)=0.725, p=0.026), language, verbal fluency and visuospatial scores, and MND-FTD (OR=7.57, 95% CI 1.55 to 46.87). A family history of neurotic disorders was associated with poorer language (exp(b)=0.362, p<0.001), visuospatial scores (exp(b)=0.625, p<0.009) and MND-FTD (OR=13.75, 95% CI 1.71 to 110.86).ConclusionNeuropsychiatric disorders in patients and their families are associated with cognitive and behavioural changes post-MND diagnosis, with many occurring independently of MND-FTD and C9orf72 status. These findings support an overlap between MND, frontotemporal dementia and neuropsychiatric disorders, particularly mood disorders.

Cognitive Functioning in Male Polydrug Abusers with and without Family History of Alcoholism

1993 ◽  
Vol 77 (2) ◽  
pp. 483-488 ◽  
Author(s):  
Marina Rodríguez
Keyword(s):  
Family History ◽  
Cognitive Functioning ◽  
Antisocial Behavior ◽  
Cognitive Tests ◽  
Cognitive Measures ◽  
Family Histories ◽  
The Family ◽  
Potential Contributor ◽  
History Of ◽  
Cognitive Deficiencies

We investigated the family history of alcoholism as a potential contributor to cognitive dysfunction in polydrug abusers. A sample of 62 male polydrug users whose main drug of use was heroin included no one with which comorbid antisocial behavior varied by family history of alcoholism. They were compared on a battery of cognitive tests. Polydrug users with positive histories tended to perform worse on several cognitive measures than those with negative family histories, but these tendencies were not statistically significant. The current findings support the hypothesis that cognitive deficiencies observed in previous studies of persons with positive family histories of alcoholism may, in part, be attributable to a failure to exclude individuals with diagnoses of antisocial behavior.

scholarly journals Family history of type 2 diabetes and characteristics of children with newly diagnosed type 1 diabetes

Diabetologia ◽  
2020 ◽  
Author(s):  
Anna Parkkola ◽  
◽  
Maaret Turtinen ◽  
Taina Härkönen ◽  
Jorma Ilonen ◽  
...  
Keyword(s):  
Type 2 Diabetes ◽  
Type 1 Diabetes ◽  
Family History ◽  
Positive Family History ◽  
Newly Diagnosed ◽  
Family History Of Diabetes ◽  
The Family ◽  
History Of

Abstract Aims/hypothesis Shared aetiopathogenetic factors have been proposed in type 1 diabetes and type 2 diabetes and both diseases have been shown to cluster in families. Characteristics related to type 2 diabetes have been described in patients with type 1 diabetes with a positive family history of type 2 diabetes. We wanted to characterise the family history of type 2 diabetes and its possible effects on the phenotype and genotype of type 1 diabetes in affected children at diagnosis. Methods A total of 4993 children under the age of 15 years with newly diagnosed type 1 diabetes from the Finnish Pediatric Diabetes Register were recruited (56.6% boys, median age of 8.2 years) for a cross-sectional, observational, population-based investigation. The family history of diabetes at diagnosis was determined by a structured questionnaire, and markers of metabolic derangement, autoantibodies and HLA class II genetics at diagnosis were analysed. Results Two per cent of the children had an immediate family member and 36% had grandparents with type 2 diabetes. Fathers and grandfathers were affected by type 2 diabetes more often than mothers and grandmothers. The children with a positive family history for type 2 diabetes were older at the diagnosis of type 1 diabetes (p < 0.001), had higher BMI-for-age (p = 0.01) and more often tested negative for all diabetes-related autoantibodies (p = 0.02). Conclusions/interpretation Features associated with type 2 diabetes, such as higher body weight, older age at diagnosis and autoantibody negativity, are more frequently already present at the diagnosis of type 1 diabetes in children with a positive family history of type 2 diabetes. Graphical abstract

Association of Location of Cyst with the family history and Mutated Gene among patients of Myelomeningocele

2021 ◽  
Vol 15 (10) ◽  
pp. 2543-2545
Author(s):  
Urooj Fatima ◽  
Sabahat Gul ◽  
Imran Ishaq ◽  
Sahrish Mukhtar ◽  
Iram Quddus ◽  
...  
Keyword(s):  
Family History ◽  
Medical Center ◽  
Positive Family History ◽  
Pcr Amplification ◽  
Cross Sectional Study ◽  
Lumbar Region ◽  
Cross Sectional ◽  
The Family ◽  
Strong Relation ◽  
History Of

Aim: To determine association of location of cyst with the family history and mutated gene among patients of myelomeningocele. Methodology: This cross sectional study consists of fifty diagnosed cases of myelomeningocele and ten healthy individuals taken as controls. The cases were collected from Jinnah Postgraduate Medical Center (JPMC) for a period of six months. The research was conducted in Dow Diagnostic and Research Laboratory (DDRL) (DUHS). Majority of the patients included in the study were neonates. Patients were examined for the presence and site of the cyst. Family history of the patients was also recorded. After taken informed consent from the patient’s attendants, blood was drawn by a trained phlebotomist. DNA was extracted from whole blood followed by PCR amplification of VANGL1 gene. Results: We found that among fifty individuals five patients showed mutation in VANGL1 gene. Mutation was absent entirely from the controls. The cyst was mostly (92%) present in the lumbar region. Only 2% patients showed positive family history. The association between site of the cyst and family history was statistically significant. Conclusion: It is concluded that all mutation of VANGL1 gene was present at lumbar region.There was a strong relation between location of cyst and family history. Keywords: Myelomeningocele, cyst, VANGL1 gene, PCR, mutation.

scholarly journals Parkinson's Disease: A Genetic Study

1986 ◽  
Vol 13 (3) ◽  
pp. 248-251 ◽  
Author(s):  
Ma. Elisa Alonso ◽  
Enrique Otero ◽  
Rosalinda D'Regules ◽  
Hector Hugo Figueroa
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Family History ◽  
Genetic Study ◽  
Early Onset ◽  
Positive Family History ◽  
Genetic Load ◽  
Control Group ◽  
The Family ◽  
History Of

ABSTRACT:A sample of 122 patients with Parkinson's Disease was studied for the purpose of investigating if the frequency of relatives affected with Parkinson in this group was higher than in a control group and to see if the genetic load was more important in some of the subtypes of Parkinson described by Barbeau and Pourcher (1982).7 In our 122 patients, we found that 1.7% were post-encephalic parkinsonian, 12.3% were symptomatic cases and 86% of the idiopathic variety. There were 16.1% early onset patients in the idiopathic group and among these we found 23.5% with a positive family history of Parkinson in the first-degree relatives. In 6 cases with the tremor onset form of the disease, the family history was positive and 5 patients, 4.7% had familial essential tremor-related Parkinsonism. Our results support Barbeau's hypothesis7.19 that Parkinson is a heterogeneous disease in which some subtypes (such as early onset Parkinson) have an important genetic subceptibility component.

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