Abstract:
:Background: Juvenile amyotrophic lateral sclerosis (jALS) is a rare form of ALS with an onset age of less than 25 years and is frequently thought to be genetic in origin. DDHD1 gene mutations have been reported to be associated with the SPG28 subtype of autosomal recessive HSP but have never been reported in jALS patients. Methods: Gene screens for the causative genes of ALS, HSP and CMT using next-generation sequencing (NGS) technologies were performed on a jALS patient. Sanger sequencing was used to validate identified variants and perform segregation analysis. Results: We identified a novel c.1483A>G (p.Met495Val) homozygous missense mutation of the DDHD1 gene in the jALS patient. All of his parents and young bother were heterozygous for this mutation. The mutation was not found in 800 Chinese control subjects or the database of dbSNP, ExAC and 1000G. Conclusion: The novel c.1483A>G (p.Met495Val) missense mutation of the DDHD1 gene could be a causative mutation of autosomal recessive jALS.
journal_name
Front Aging Neuroscijournal_title
Frontiers in aging neuroscienceauthors
Wu C,Fan Ddoi
10.3389/fnagi.2016.00291subject
Has Abstractpub_date
2016-12-06 00:00:00pages
291issn
1663-4365journal_volume
8pub_type
abstract::Stroke is a major public health problem worldwide with a high burden of neurological disability and mortality. Long noncoding RNAs (lncRNAs) have attracted much attention in the past decades because of their newly discovered roles in pathophysiological processes in many diseases. The abundance of lncRNAs in the nervou...
journal_title:Frontiers in aging neuroscience
pub_type: 杂志文章,评审
doi:10.3389/fnagi.2020.594571
更新日期:2020-10-19 00:00:00
abstract::Aging of the central nervous system (CNS) is one of the major risk factors for the development of neurodegenerative pathologies such as Parkinson's disease (PD) and Alzheimer's disease (AD). The molecular mechanisms underlying the onset of AD and especially PD are not well understood. However, neuroinflammatory respon...
journal_title:Frontiers in aging neuroscience
pub_type: 杂志文章,评审
doi:10.3389/fnagi.2017.00194
更新日期:2017-06-14 00:00:00
abstract::Herpes simplex virus type 1 (HSV1), when present in brain of carriers of the type 4 allele of the apolipoprotein E gene (APOE), has been implicated as a major factor in Alzheimer's disease (AD). It is proposed that virus is normally latent in many elderly brains but reactivates periodically (as in the peripheral nervo...
journal_title:Frontiers in aging neuroscience
pub_type: 杂志文章,评审
doi:10.3389/fnagi.2014.00202
更新日期:2014-08-11 00:00:00
abstract::Background: Due to the lack of objective measures for assessing tinnitus, its clinical evaluation largely relies on the use of questionnaires and psychoacoustic tests. A global assessment of tinnitus burden would largely benefit from holistic approaches that not only incorporate measures of tinnitus but also take into...
journal_title:Frontiers in aging neuroscience
pub_type: 杂志文章
doi:10.3389/fnagi.2016.00272
更新日期:2016-11-22 00:00:00
abstract::It is well known that Alzheimer's disease (AD) is one of the most common progressive neurodegenerative diseases; it begins gradually, and therefore no effective medicine is administered in the beginning. Thus, early diagnosis and prevention of AD are crucial. The present study focused on comparing the plasma protein c...
journal_title:Frontiers in aging neuroscience
pub_type: 杂志文章
doi:10.3389/fnagi.2018.00414
更新日期:2018-12-17 00:00:00
abstract::The obesity epidemic had spawned considerable interest in understanding peoples' responses to palatable food cues that are plentiful in obesogenic environments. In this paper we examine how trait mindfulness of older, obese adults may moderate brain networks that arise from exposure to such cues. Nineteen older, obese...
journal_title:Frontiers in aging neuroscience
pub_type: 杂志文章
doi:10.3389/fnagi.2012.00013
更新日期:2012-06-06 00:00:00
abstract::Previous research suggests specific deficits in face perception and memory in older adults, which could reflect a dedifferentiation in the context of a general broadening of cognitive architecture with advanced age. Such dedifferentiation could manifest in a less specialized face processing system. A promising tool to...
journal_title:Frontiers in aging neuroscience
pub_type: 杂志文章
doi:10.3389/fnagi.2014.00060
更新日期:2014-04-04 00:00:00
abstract::Background and Purpose: Previous studies found inconsistent results regarding the relationship between Alzheimer's disease (AD) and catecholamines, such as dopamine (DA), norepinephrine (NE), and epinephrine (EPI). Therefore, the purpose of this study was to perform a systematic review and meta-analysis to evaluate th...
journal_title:Frontiers in aging neuroscience
pub_type:
doi:10.3389/fnagi.2020.00184
更新日期:2020-09-11 00:00:00
abstract::Alzheimer's disease (AD) still remains an enigma for researchers and clinicians. The onset of AD is insidious, gradually progressive and multifactorial. The recent accumulated scientific evidences suggests that the pathological changes resemble the autoimmune-driven self-sustaining inflammatory process as a result of ...
journal_title:Frontiers in aging neuroscience
pub_type: 杂志文章
doi:10.3389/fnagi.2019.00290
更新日期:2019-10-23 00:00:00
abstract::Aggregated tau is a hallmark neuropathological feature in numerous neurodegenerative disorders. Previous studies aiming to validate aggregated tau pathology as a pathogenic driver of neurodegeneration in correlation to characteristic behavioral phenotypes have had shortcomings. Although studies on soluble tau patholog...
journal_title:Frontiers in aging neuroscience
pub_type: 杂志文章
doi:10.3389/fnagi.2020.537712
更新日期:2020-11-05 00:00:00
abstract::Myotonic dystrophy type 1 (DM1 or Steinert's disease) and type 2 (DM2) are multisystem disorders of genetic origin. Progressive muscular weakness, atrophy and myotonia are the most prominent neuromuscular features of these diseases, while other clinical manifestations such as cardiomyopathy, insulin resistance and cat...
journal_title:Frontiers in aging neuroscience
pub_type: 杂志文章,评审
doi:10.3389/fnagi.2015.00125
更新日期:2015-07-09 00:00:00
abstract::Exercise may be the most commonly offered yet least consistently followed therapeutic advice for people with Parkinson's disease (PD). Epidemiological studies of prospectively followed cohorts have shown a lower risk for later developing PD in healthy people who report moderate to high levels of physical activity, and...
journal_title:Frontiers in aging neuroscience
pub_type: 杂志文章,评审
doi:10.3389/fnagi.2020.00186
更新日期:2020-06-19 00:00:00
abstract::[This corrects the article DOI: 10.3389/fnagi.2019.00343.]. ...
journal_title:Frontiers in aging neuroscience
pub_type: 已发布勘误
doi:10.3389/fnagi.2020.00030
更新日期:2020-02-18 00:00:00
abstract::Objectives/Background: Systemic inflammation can affect cognitive performance over time. The current study examined associations between systemic inflammation and cognitive performance among African Americans and Whites urban adults, stratifying by sex, and age group and by race. Patients/Methods: Among 1,555-1,719 Wh...
journal_title:Frontiers in aging neuroscience
pub_type: 杂志文章
doi:10.3389/fnagi.2018.00313
更新日期:2018-10-09 00:00:00
abstract::Background and Objective: Ventricle volume is closely related to hydrocephalus, brain atrophy, Alzheimer's, Parkinson's syndrome, and other diseases. To accurately measure the volume of the ventricles for elderly patients, we use deep learning to establish a systematic and comprehensive automated ventricle segmentatio...
journal_title:Frontiers in aging neuroscience
pub_type: 杂志文章
doi:10.3389/fnagi.2020.618538
更新日期:2020-12-16 00:00:00
abstract::The aggregation of α-synuclein (α-syn) is considered the key pathogenic event in many neurological disorders such as Parkinson's disease (PD), dementia with Lewy bodies and multiple system atrophy, giving rise to a whole category of neurodegenerative diseases known as synucleinopathies. Although the molecular basis of...
journal_title:Frontiers in aging neuroscience
pub_type: 杂志文章
doi:10.3389/fnagi.2014.00197
更新日期:2014-08-05 00:00:00
abstract::Backgrounds: Frailty and cognitive impairment are critical geriatric syndromes. In previous studies, both conditions have been identified in old-age adults as increased risk factors for mortality. However, the combined effect of these two syndromes in predicting mortality among people with advanced age is not well und...
journal_title:Frontiers in aging neuroscience
pub_type: 杂志文章
doi:10.3389/fnagi.2018.00295
更新日期:2018-10-18 00:00:00
abstract::Microglia are dependent on signaling through the colony stimulating factor-1 receptor (CSF-1R/CD115) for growth and survival. Activation of CSF-1R can lead to cell division, while blocking CSF-1R can lead to rapid microglia cell death. CSF-1R has two ligands, the growth factors colony stimulating factor-1 (CSF-1) and ...
journal_title:Frontiers in aging neuroscience
pub_type: 杂志文章
doi:10.3389/fnagi.2017.00244
更新日期:2017-08-09 00:00:00
abstract::Alzheimer's disease (AD) is the most common form of dementia diagnosed amongst the elderly. Mild cognitive impairment (MCI) is a condition often indicative of the earliest symptomatology of AD with 10%-15% of MCI patients reportedly progressing to a diagnosis of AD. Individuals with a history of vascular risk factors ...
journal_title:Frontiers in aging neuroscience
pub_type: 杂志文章,评审
doi:10.3389/fnagi.2017.00048
更新日期:2017-03-03 00:00:00
abstract::An inverse association may exist between cancers and neurodegenerative diseases, although convenient biomarkers for verifying this inverse association are lacking. Plasma neurofilament light chain (NfL) is a novel biomarker for neurodegenerative diseases, such as Alzheimer's disease (AD), but it has not been measured ...
journal_title:Frontiers in aging neuroscience
pub_type: 杂志文章
doi:10.3389/fnagi.2020.00010
更新日期:2020-01-29 00:00:00
abstract::The emotions evoked by music can enhance recognition of excerpts. It has been suggested that memory is better for high than for low arousing music (Eschrich et al., 2005; Samson et al., 2009), but it remains unclear whether positively (Eschrich et al., 2008) or negatively valenced music (Aubé et al., 2013; Vieillard a...
journal_title:Frontiers in aging neuroscience
pub_type: 杂志文章
doi:10.3389/fnagi.2015.00023
更新日期:2015-03-12 00:00:00
abstract::EEG research conducted in the past 5 years on multiple object processing has begun to define how the aging brain tracks the numerosity of the objects presented in the visual field for different goals. We review the recent EEG findings in healthy older individuals (age range: 65-75 years approximately) on perceptual, a...
journal_title:Frontiers in aging neuroscience
pub_type: 杂志文章,评审
doi:10.3389/fnagi.2016.00046
更新日期:2016-03-02 00:00:00
abstract::Verbal fluency is the ability to produce a satisfying sequence of spoken words during a given time interval. The core of verbal fluency lies in the capacity to manage the executive aspects of language. The standard scores of the semantic verbal fluency test are broadly used in the neuropsychological assessment of the ...
journal_title:Frontiers in aging neuroscience
pub_type: 杂志文章
doi:10.3389/fnagi.2014.00185
更新日期:2014-07-29 00:00:00
abstract::Background: Gray matter (GM) alterations in Parkinson's disease (PD) patients with rapid eye movement sleep behavior disorder (RBD) have been demonstrated in many neuroimaging studies using voxel-based morphometry (VBM). However, the inconsistent findings between studies cannot be applied to clinical practice as a neu...
journal_title:Frontiers in aging neuroscience
pub_type:
doi:10.3389/fnagi.2020.00213
更新日期:2020-08-12 00:00:00
abstract::Background: Parkinson's disease (PD) is one of the most common neurodegenerative diseases. Variants in the LRRK2 gene have been shown to be associated with PD. However, the clinical characteristics of LRRK2-related PD are heterogeneous. In our study, we performed a comprehensive pooled analysis of the association betw...
journal_title:Frontiers in aging neuroscience
pub_type: 杂志文章
doi:10.3389/fnagi.2018.00283
更新日期:2018-09-19 00:00:00
abstract::Background: Primary progressive aphasia (PPA) is a clinical syndrome characterized by the neurodegeneration of language brain systems. Three main clinical forms (non-fluent, semantic, and logopenic PPA) have been recognized, but applicability of the classification and the capacity to predict the underlying pathology i...
journal_title:Frontiers in aging neuroscience
pub_type: 杂志文章
doi:10.3389/fnagi.2018.00230
更新日期:2018-07-31 00:00:00
abstract::Current society has to deal with major challenges related to our constantly increasing population of older adults. Since, motor performance generally deteriorates at older age, research investigating the effects of different types of training on motor improvement is particularly important. Here, we tested the effects ...
journal_title:Frontiers in aging neuroscience
pub_type: 杂志文章
doi:10.3389/fnagi.2015.00157
更新日期:2015-08-11 00:00:00
abstract::Parkinson's disease (PD) is the second most prevalent neurodegenerative disease in ageing individuals. It is now clear that genetic susceptibility and environmental factors play a role in disease etiology and progression. Because environmental factors are involved with the majority of the cases of PD, it is important ...
journal_title:Frontiers in aging neuroscience
pub_type: 杂志文章,评审
doi:10.3389/fnagi.2014.00036
更新日期:2014-03-07 00:00:00
abstract::Rational: Alzheimer's disease (AD) is a neurodegenerative pathology characterized by the presence of neuritic plaques and neurofibrillary tangles. Aluminum has been reported to play an important role in the etiology and pathogenesis of this disease. Hence, the present study aimed to evaluate the neuroprotective role o...
journal_title:Frontiers in aging neuroscience
pub_type: 杂志文章
doi:10.3389/fnagi.2018.00244
更新日期:2018-08-13 00:00:00
abstract::As the population ages and dementia becomes a growing healthcare concern, it is increasingly important to identify targets for intervention to delay or attenuate cognitive decline. Research has shown that the most successful interventions aim at altering lifestyle factors. Thus, this study examined how involvement in ...
journal_title:Frontiers in aging neuroscience
pub_type: 杂志文章
doi:10.3389/fnagi.2016.00094
更新日期:2016-05-02 00:00:00