Characteristics of Early-Onset Dementia in Chiba Prefecture, Japan: A Multicenter Survey

2021 ◽  
pp. 1-6
Author(s):  
Shigeki Hirano ◽  
Ryuji Sakakibara ◽  
Naoya Komatsu ◽  
Keisuke Shimizu ◽  
Moeno Ishikawa ◽  
...  
Keyword(s):  
Family History ◽  
Early Onset ◽  
Neuropsychological Test ◽  
Age At Onset ◽  
Positive Family History ◽  
Lewy Bodies ◽  
Lewy Body Dementia ◽  
Early Onset Dementia ◽  
Chiba Prefecture ◽  
Multicenter Survey

<b><i>Introduction:</i></b> Early-onset dementia (EOD), defined as dementia onset before the age of 65 years, is relatively rare, but its social impacts are significant. This study aimed to characterize the diagnosis and clinical and social status of EOD subjects in the 11 dementia centers in Chiba Prefecture, Japan. <b><i>Methods:</i></b> A retrospective 1-year survey was conducted. Collected data included clinical diagnosis, age at onset, age at survey, neuropsychological test, family history, employment, and living status. <b><i>Results:</i></b> We identified 208 EOD subjects, including 123 (59.4%), 24 (11.6%), 21 (10.1%), 17 (8.2%), and 10 (4.8%) with Alzheimer’s disease (AD), vascular dementia, frontotemporal lobar degeneration (FTLD), dementia with Lewy bodies/Parkinson’s disease dementia, and alcohol-related dementia, respectively. The Mini-Mental State Examination (MMSE) score &#x3c;24 was observed in 50–75% of patients and was not correlated with disease duration. Twenty-four (16.4%) subjects had positive family history of EOD. EOD subjects were at risk of early retirement, and 133 subjects lived with their family, in whom 64 (30.8%) lived with their child. <b><i>Conclusion:</i></b> In dementia centers, AD, FTLD, and Lewy body dementia had relatively large proportion. Employment, economy, and social supports are urgently needed for EOD subjects and their family.

scholarly journals The Differential Diagnosis of Adult Onset Metachromatic Leukodystrophy and Early Onset Familial Alzheimer Disease in an Alzheimer Clinic Population

1993 ◽  
Vol 20 (4) ◽  
pp. 312-318 ◽  
Author(s):  
A.D. Sadovnick ◽  
H. Tuokko ◽  
D.A. Applegarth ◽  
J.R. Toone ◽  
T. Haijistavropoulos ◽  
...  
Keyword(s):  
Family History ◽  
Alzheimer Disease ◽  
Behavioral Problems ◽  
Early Onset ◽  
Metachromatic Leukodystrophy ◽  
Psychiatric Symptoms ◽  
Age At Onset ◽  
Positive Family History ◽  
Personality Change ◽  
Adult Onset

ABSTRACT:Clinical differentiation between forms of progressive dementia can prove difficult, particularly when relatively rare forms of dementia are involved. Factors such as family history of dementia, age at onset, presenting features such as personality change, cognitive deficits, psychiatric symptoms, and clinical course (progressive deterioration; retention of skills over time) may prove useful for directing investigations to identify underlying pathology and genetic implications. This is illustrated by two patient reports. Each patient had the onset of memory/behavioral problems at approximately age 40 years, was initially given a psychiatric, non-dementing diagnosis, and had a positive family history for early onset behavioral and memory problems. After longitudinal assessment, the diagnosis of Alzheimer disease was confirmed at autopsy in one patient and a diagnosis of familial, adult-onset metachromatic leukodystrophy in the other.

scholarly journals Early-Onset Familial Alzheimer's Disease (EOFAD)

2012 ◽  
Vol 39 (4) ◽  
pp. 436-445 ◽  
Author(s):  
Liyong Wu ◽  
Pedro Rosa-Neto ◽  
Ging-Yuek R. Hsiung ◽  
A. Dessa Sadovnick ◽  
Mario Masellis ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Family History ◽  
Early Onset ◽  
Age At Onset ◽  
Positive Family History ◽  
Amyloid Β ◽  
Neurological Symptoms ◽  
Familial Alzheimer’S Disease ◽  
Familial Alzheimer's Disease

Early-onset familial Alzheimer's disease (EOFAD) is a condition characterized by early onset dementia (age at onset < 65 years) and a positive family history for dementia. To date, 230 mutations in presenilin (PS1, PS2) and amyloid precursor protein (APP) genes have been identified in EOFAD. The mutations within these three genes (PS1/PS2/APP) affect a common pathogenic pathway in APP synthesis and proteolysis, which lead to excessive production of amyloid β. Compared with sporadic Alzheimer's disease (AD), EOFAD has some distinctive features including early age at onset, positive familial history, a variety of non-cognitive neurological symptoms and signs, and a more aggressive course. There is marked phenotypic heterogeneity among different mutations of EOFAD. Studies in presymptomatic mutation carriers reveal biomarkers abnormalities. EOFAD diagnosis is based on clinical and family history, neurological symptoms and examination, biomarker features, as well as genotyping in some cases. New therapeutic agents targeting amyloid formation may benefit EOFAD individuals.

scholarly journals Association of Androgenetic Alopecia with Benign Prostatic Hyperplasia: A Case Control Study

2018 ◽  
Vol 16 (1) ◽  
pp. 17-23
Author(s):  
Manoj Kumar Chaudhary ◽  
Sudha Agrawal ◽  
Chandra Shekhar Agrawal
Keyword(s):  
Benign Prostatic Hyperplasia ◽  
Family History ◽  
Early Onset ◽  
Positive Family History ◽  
Prostatic Hyperplasia ◽  
Androgenetic Alopecia ◽  
Pelvic Ultrasonography ◽  
Increased Risk ◽  
History Of ◽  
Common Pathogenesis

Introduction: Androgenetic alopecia (AGA) is associated with increased risk of several systemic diseases and some environmental factors, however, controversies exist. Since AGA and Benign Prostatic Hyperplasia (BPH) share common pathogenesis and AGA manifests some decades before BPH onset, it may serve as an early marker of BPH.Objective: This study was conducted to know AGA and its association with BPH in men ≥20 years of age.Materials and Methods: Clinically diagnosed cases of AGA (n=176) and 117 age matched healthy controls were enrolled. All cases and controls were subjected for abdomino-pelvic ultrasonography, urinary flowmetry, fasting lipid profiles, glycemic index and body mass index. International Prostate Symptom Score (IPSS) was also assessed.Results: Among 176 patients, 120 (68.18%) had Hamilton-Norwood grade III AGA and 56 (31.82%) had grade IV-VII AGA. In both groups, 140 (79.55%) cases and 93 (79.49%) controls were aged <35 years respectively. Family history of AGA was present in 108 (61.36%) cases and 2 (1.71%) controls. This observation was statistically significant with OR= 89.61 (95%CI 23.67-339.29). Three (1.7%) cases and none of the controls had prostate volume >30ml. Seventeen(9.66%) cases and 4 (3.42%) controls were graded as moderately/severely symptomatic IPSS. Statistically significant association was seen between family history and early onset of hair loss (<35 years) in a male sibling or parent.Conclusion: Although positive family history was associated with early onset of AGA, no association between AGA and BPH could be elicited in our study.

scholarly journals APOE ε4, white matter hyperintensities, and cognition in Alzheimer and Lewy body dementia

Neurology ◽  
2019 ◽  
Vol 93 (19) ◽  
pp. e1807-e1819 ◽  
Author(s):  
Saira Saeed Mirza ◽  
Usman Saeed ◽  
Jo Knight ◽  
Joel Ramirez ◽  
Donald T. Stuss ◽  
...  
Keyword(s):  
White Matter ◽  
Executive Functions ◽  
White Matter Hyperintensities ◽  
Neuropsychological Test ◽  
Neuropsychological Testing ◽  
Lewy Bodies ◽  
Lewy Body Dementia ◽  
Factor Scores ◽  
Linear Regression Models ◽  
Cognitive Domains

ObjectiveTo determine if APOE ε4 influences the association between white matter hyperintensities (WMH) and cognitive impairment in Alzheimer disease (AD) and dementia with Lewy bodies (DLB).MethodsA total of 289 patients (AD = 239; DLB = 50) underwent volumetric MRI, neuropsychological testing, and APOE ε4 genotyping. Total WMH volumes were quantified. Neuropsychological test scores were included in a confirmatory factor analysis to identify cognitive domains encompassing attention/executive functions, learning/memory, and language, and factor scores for each domain were calculated per participant. After testing interactions between WMH and APOE ε4 in the full sample, we tested associations of WMH with factor scores using linear regression models in APOE ε4 carriers (n = 167) and noncarriers (n = 122). We hypothesized that greater WMH volume would relate to worse cognition more strongly in APOE ε4 carriers. Findings were replicated in 198 patients with AD from the Alzheimer's Disease Neuroimaging Initiative (ADNI-I), and estimates from both samples were meta-analyzed.ResultsA significant interaction was observed between WMH and APOE ε4 for language, but not for memory or executive functions. Separate analyses in APOE ε4 carriers and noncarriers showed that greater WMH volume was associated with worse attention/executive functions, learning/memory, and language in APOE ε4 carriers only. In ADNI-I, greater WMH burden was associated with worse attention/executive functions and language in APOE ε4 carriers only. No significant associations were observed in noncarriers. Meta-analyses showed that greater WMH volume was associated with worse performance on all cognitive domains in APOE ε4 carriers only.ConclusionAPOE ε4 may influence the association between WMH and cognitive performance in AD and DLB.

HLA DQ2 HAPLOTYPE, EARLY ONSET OF GRAVES DISEASE, AND POSITIVE FAMILY HISTORY OF AUTOIMMUNE DISORDERS ARE RISK FACTORS FOR DEVELOPING CELIAC DISEASE IN PATIENTS WITH GRAVES DISEASE

2015 ◽  
Vol 21 (9) ◽  
pp. 993-1000 ◽  
Author(s):  
Piotr Miskiewicz ◽  
Agata Gos-Zajac ◽  
Alina Kurylowicz ◽  
Teresa Maria Plazinska ◽  
Maria Franaszczyk ◽  
...  
Keyword(s):  
Risk Factors ◽  
Celiac Disease ◽  
Family History ◽  
Early Onset ◽  
Positive Family History ◽  
Autoimmune Disorders ◽  
Graves Disease ◽  
History Of ◽  
Hla Dq2

scholarly journals Prevalence of germline TP53 mutation among early onset middle eastern breast cancer patients

2021 ◽  
Vol 19 (1) ◽  
Author(s):  
Abdul Khalid Siraj ◽  
Tariq Masoodi ◽  
Rong Bu ◽  
Sandeep Kumar Parvathareddy ◽  
Kaleem Iqbal ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Family History ◽  
Early Onset ◽  
Middle Eastern ◽  
Mutation Screening ◽  
Univariate Analysis ◽  
Positive Family History ◽  
Germline Mutations ◽  
Pathogenic Mutations ◽  
History Of

Abstract Background The data on prevalence and clinical relevance of TP53 germline mutations in early onset Middle-Eastern breast cancer (BC) is limited. Methods We determined TP53 germline mutations in a cohort of 464 early onset BC patients from Saudi Arabia using capture sequencing based next generation sequencing. Results Germline TP53 pathogenic mutations were found in 1.5% (7/464) of early onset Saudi BC patients. A total of six pathogenic missense mutations, one stop gain mutation and two variants of uncertain significance (VUS) were detected in our cohort. No TP53 pathogenic mutations were detected among 463 healthy controls. TP53 mutations carriers were significantly more likely to have bilateral breast cancer (p = 0.0008). At median follow-up of 41 months, TP53 mutations were an unfavorable factor for overall survival in univariate analysis. All the patients carrying TP53 mutations were negative for BRCA1 and BRCA2 mutations. Majority of patients (85.7%; 6/7) carrying TP53 mutation had no family history suggestive of Li-Fraumeni Syndrome (LFS) or personal history of multiple LFS related tumors. Only one patient had a positive family history suggestive of LFS. Conclusions TP53 germline mutation screening detects a clinically meaningful risk of early onset BC from this ethnicity and should be considered in all early onset BC regardless of the family history of cancer, especially in young patients that are negative for BRCA mutations.

scholarly journals 20 Clinical characteristics of pathological confirmed early onset dementia with lewy bodies

2019 ◽  
Author(s):  
Simon Kang Seng Ting ◽  
Celeste Chen ◽  
Huihua Li ◽  
Shahul Hameed ◽  
Adeline NG ◽  
...  
Keyword(s):  
Early Onset ◽  
Dementia With Lewy Bodies ◽  
Clinical Characteristics ◽  
Lewy Bodies ◽  
Early Onset Dementia

scholarly journals Baseline disease characteristics in Brazilian patients enrolled in Transthyretin Amyloidosis Outcome Survey (THAOS)

2019 ◽  
Vol 77 (2) ◽  
pp. 96-100 ◽  
Author(s):  
Márcia Waddington Cruz ◽  
Marcus Vinicius Pinto ◽  
Luiz Felipe Pinto ◽  
Renata Gervais ◽  
Moisés Dias ◽  
...  
Keyword(s):  
Family History ◽  
Symptom Onset ◽  
Correct Diagnosis ◽  
Age At Onset ◽  
Positive Family History ◽  
Clinical Manifestations ◽  
Familial Amyloid Polyneuropathy ◽  
Transthyretin Amyloidosis ◽  
Disease Characteristics ◽  
Amyloid Polyneuropathy

ABSTRACT Transthyretin amyloidosis (ATTR) is characterized by the deposit of mutant or wild-type transthyretin that forms amyloid fibrils, which are extracellularly deposited within tissues and organs. Clinical manifestations of familial amyloid polyneuropathy vary according to the mutation, age at onset and geographical location. This study aimed to describe baseline disease characteristics of Brazilian patients with transthyretin familial amyloid polyneuropathy (ATTR-FAP) enrolled in the Transthyretin Amyloidosis Outcome Survey (THAOS). Methods: The THAOS is an international, noninterventional, longitudinal, observational, web-based registry designed to characterize ATTR. The outcome measures included demographics (age at symptom onset, gender, time from onset of symptoms to diagnosis, family history), genotype, and clinical characteristics (presence of amyloid deposit, frequency of misdiagnosis, presenting symptomatology). The analysis was conducted in a dataset from Brazilian patients (from November 2008 to January 2016). Results: One hundred and sixty participants (52.5% male) were included in the analysis. The majority of participants (90.6%) reported a positive family history of ATTR-FAP Median age at symptom onset was 32.5 years. Val30Met mutation was found in 91.9%. Misdiagnosis was observed in 26.6% of symptomatic patients. Over one-third (35.3%) of the misdiagnosed patients experienced a delay of more than one year before receiving a correct diagnosis. At presentation, 79.7% of the patients had motor, 87.5% sensory and 93.8% autonomic symptoms. Conclusion: ATTR-FAP in Brazil starts early, has a strong family history and the majority has Val30Met mutation. Misdiagnosis is common and the most common presentation is of a sensorimotor and autonomic neuropathy.

Abstract TMP94: Frequencies of Hereditary Cerebral Small Vessel Diseases Among Patients With Adult-Onset Leukoencephalopathy

Stroke ◽  
2020 ◽  
Vol 51 (Suppl_1) ◽  
Author(s):  
Masahiro Uemura ◽  
Hiroaki Nozaki ◽  
Naoko Sakai ◽  
Shouichirou Ando ◽  
Masato Kanazawa ◽  
...  
Keyword(s):  
White Matter ◽  
Family History ◽  
Small Vessel Disease ◽  
Age At Onset ◽  
Positive Family History ◽  
Small Vessel ◽  
Adult Onset ◽  
Genetic Tests ◽  
Neurological Signs ◽  
White Matter Disorders

Introduction: Recently, various causative genes have been identified in adult-onset white matter disorders. Some of these genes cause cerebral small vessel disease (CSVD). However, the frequency of genetic CSVD is unknown in the group of adult-onset white matter disorders (leukoencephalopathy). The purpose of this study is to clarify the frequency of genetic CSVD in adult-onset leukoencephalopathy patients and to examine their clinical features. Methods: One hundred patients in the Japanese cohort were included. All patients had neurological symptoms/signs and white matter lesions of grade 3/III classified by Fazekas grade on magnetic resonance imaging. Initially, genetic tests for cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), high-temperature requirement A serine peptidase 1 (HTRA1)- related CSVD and retinovasculopathy with cerebral leukoencephalopathy (RVCL) were performed by Sanger method. For the remaining samples, we preformed whole exome sequencing. Patients were divided into groups according to the age at onset of neurological signs/symptoms and family history. Results: In 40 of 100 patients with leukoencephalopathy, we identified genetic mutations that cause CSVD: twenty-five patients with CADASIL,10 patients with HTRA1 -related CSVD, 3 patients with pseudoxanthoma elasticum (PXE), 1 patient with RVCL, and 1 patient with a mutation in COL4A1 . More than 85% patients have mutations in NOTCH3 or HTRA1 . In addition, we identified 3 patients with vanishing white matter disease, and 1 patient with X-linked adrenoleukodystrophy. The hereditary CSVDs other than CADASIL or HTRA1 -related CSVD were identified in the groups of age at onset ≤ 40 years-old irrespective of family history or age at onset ≤ 55 years-old with family history. Conclusions: The frequencies of genetic CSVDs were quite high among patients with leukoencephalopathy with neurological signs/symptoms. Although the genetic tests for CADASIL and HTRA1- related CSVD are sufficient for the most patients, we should consider the other genetic diseases especially for the patients with younger age onset of neurological signs/symptoms or positive family history.

Genetic Insights into Early-onset Parkinson’s Disease

US Neurology ◽  
2010 ◽  
Vol 06 (01) ◽  
pp. 41
Author(s):  
Roy N Alcalay ◽  
Cheryl Waters ◽  
◽  
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Family History ◽  
Early Onset ◽  
Late Onset ◽  
Positive Family History ◽  
Disease Onset ◽  
Leucine Rich Repeat ◽  
Strong Family History ◽  
Early Onset Parkinson’S Disease

Early-onset Parkinson’s disease (EOPD) is defined as disease onset before 40 or 50 years of age. The clinical characteristics of EOPD are very similar to those of late-onset PD, but dystonia is more often a presenting symptom, dementia is rare, and disease progression may be slower. Mutations in several genes have been described in cases with EOPD, often with strong family history, including mutations in α-synuclein (SNCA),DJ-1, PTEN-induced kinase-1 (PINK-1), andATP13A2. However, the most common mutations identified in EOPD are in Parkin (PRKN), leucine-rich repeat kinase 2 (LRRK2), and glucocerebrosidase (GBA). With the exception ofSNCAandATP13A2carriers, mutation carriers are often indistinguishable from non-carriers. Large series of EOPD cases that are not ascertained by family history estimate mutation frequency at 4–16%. Given that the frequency of positive family history is much higher, we believe that many genetic risk factors are yet to be discovered.

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