Abstract：
:Genetic studies over the past 15 years have revolutionized our understanding towards the etiology of Parkinson's disease (PD). These studies have discovered many disease-linked genetic loci (PARK 1 to 18), which are now being interrogated for cellular pathways contributing to PD. Various pathogenic pathways were proposed but validation of each pathway awaits rigorous experimental testing. Here we review recent progress in understanding the influence of disease risk genes on cellular functions, specifically, autophagy pathways. Autophagy is a cell self-eating, lysosomal degradation system that plays an important role in cell homeostasis and survival. Neurons are post-mitotic cells and particularly vulnerable to the impairment of autophagic degradation due to their inability to redistribute damaged proteins and organelles to daughter cells. Emerging evidence has implicated dysfunctional autophagy in a growing number of neurodegenerative diseases including PD. We will also discuss the prospect of intervening autophagy pathways as a potential strategy to treat PD.
journal_name
Parkinsonism Relat Disordjournal_title
Parkinsonism & related disordersauthors
Pan PY,Yue Zdoi
10.1016/S1353-8020(13)70037-3subject
Has Abstractpub_date
2014-01-01 00:00:00pages
S154-7eissn
1353-8020issn
1873-5126pii
S1353-8020(13)70037-3journal_volume
20 Suppl 1pub_type
杂志文章,评审abstract：INTRODUCTION:There is currently no definitive diagnostic test for Parkinson's disease (PD) and the current diagnostic procedure primarily relies on clinical manifestations. A hypointense appearance of nigrosome-1 (or absence of the "swallow tail" sign) on magnetic resonance imaging (MRI) has been proposed as a biomarke...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章,评审
doi：10.1016/j.parkreldis.2020.07.002
更新日期：2020-09-01 00:00:00
abstract：OBJECTIVE:To explore the microstructural integrity of the optic nerve and its role as a cognitive predictor in patients with de novo Parkinson's disease (PD) using diffusion tensor image-based magnetic resonance scans. METHODS:We enrolled 82 patients with de novo PD, 36 patients with drug-induced parkinsonism (DIP), a...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2016.06.020
更新日期：2016-10-01 00:00:00
abstract：:Myoclonus is a sudden and brief involuntary muscle contraction presenting with jerk-like movements that can occasionally involve the trunk muscles or the diaphragm as in the case of spinal myoclonus1. We here present an unusual case with unilateral diaphragmatic myoclonus owing to electrode dislocation of an implantab...
journal_title：Parkinsonism & related disorders
pub_type： 信件
doi：10.1016/j.parkreldis.2019.03.004
更新日期：2019-06-01 00:00:00
abstract：:Laryngeal hypokinesia is a common symptom in Parkinson's disease (PD) that affects quality of life. Deep brain stimulation (DBS) is well recognized as a complementary method for treatment of motor symptoms in PD but the outcomes on patients' control over phonatory alternation have yet not been clearly elucidated. The ...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2012.03.025
更新日期：2012-08-01 00:00:00
abstract：:Duplications and triplications of the alpha-synuclein (SNCA) gene have been reported in Parkinson's disease patients belonging to the Southern Swedish "Lister family". Further genealogical research has now shown that these individuals are descended from a large kindred characterized by Herman Lundborg in 1901-1913. In...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2008.08.002
更新日期：2009-06-01 00:00:00
abstract：:Abnormally aggregated tau protein is central to the pathophysiology of Alzheimer's disease, frontotemporal dementia variants, progressive supranuclear palsy, corticobasal degeneration and chronic traumatic encephalopathy. The post-mortem cortical density of hyperphosphorylated tau tangles correlates with pre-morbid co...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章,评审
doi：10.1016/j.parkreldis.2015.08.011
更新日期：2016-01-01 00:00:00
abstract：:Myoclonus-dystonia is an early onset genetic disorder characterised by subcortical myoclonus and less prominent dystonia. Its primary causative gene is the epsilon-sarcoglycan gene but the syndrome of "myoclonic dystonia" has been shown to be a heterogeneous group of genetic disorders. The underlying pathophysiology o...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章,评审
doi：10.1016/j.parkreldis.2020.06.016
更新日期：2020-08-01 00:00:00
abstract：:Mutations in the parkin gene are a common cause of autosomal recessive juvenile parkinsonism (AR-JP) but their role in idiopathic Parkinson's disease (PD) is not clear. Recent studies demonstrate that most young onset PD without family history is not due to mutations in parkin. However, there is less information about...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2005.04.003
更新日期：2005-09-01 00:00:00
abstract：:An international panel of movement disorders specialists explored the views and perceptions of people with Parkinson's disease (PD) about their condition and its treatment, including the potential mismatch between the clinician's view of the patient's condition and their own view of what aspects of the disease most af...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2020.02.013
更新日期：2020-03-01 00:00:00
abstract：INTRODUCTION:While metals have been implicated in the pathophysiology of Parkinson's disease (PD), the clinical evidence is scarce. Further, the contribution of metals for the risk or clinical presentation of PD remains to be explored. METHODS:To investigate the associations between the level of metals in blood serum ...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2018.05.022
更新日期：2018-10-01 00:00:00
abstract：INTRODUCTION:aim of the study was to evaluate the presence of the Obsessive Compulsive Personality Disorder (OCPeD) in Multiple System Atrophy (MSA), Progressive Supranuclear Palsy (PSP) and Essential Tremor (ET) and in a group of healthy subjects. METHODS:patients affected by MSA, PSP and ET diagnosed according to cu...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2016.06.015
更新日期：2016-09-01 00:00:00
abstract：:Deficiency in skilled motor activity is primarily attributed to the loss of dopaminergic neurons in the pars compacta of substantia nigra (SNc), which can be detected by performance of the rotarod test. Previous reports have demonstrated impaired skilled motor behavior in rats during the pre-motor stage of Parkinson's...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2010.12.017
更新日期：2011-07-01 00:00:00
abstract：:The authors review some particularities of movement disorders (MDs) in the ethnically diverse population of Latin America. Although idiopathic diseases are evenly prevalent, access to treatment encounters difficulties that are worth discussing. Infectious-parasitic diseases observed throughout the continent occasional...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章,评审
doi：10.1016/j.parkreldis.2005.08.009
更新日期：2006-04-01 00:00:00
abstract：INTRODUCTION:Germline silencing of the PD-related protein LRRK2 does not alter glutamate or dopamine release in adult mice, but some exploratory abnormalities have been reported with ageing. Contrastingly, high levels of human LRRK2 cause locomotor alterations and cognitive deficits accompanied by reduced striatal dopa...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2015.07.025
更新日期：2015-10-01 00:00:00
abstract：:Huntington's disease (HD) is an autosomal dominant neurodegenerative disorder. An association with sleep breathing disorder has not previously been established in the literature. We report the case of a 45-year-old woman with HD, presenting with snoring and observed apnea. Polysomnography showed obstructive sleep apne...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2005.01.005
更新日期：2005-06-01 00:00:00
abstract：INTRODUCTION:Head tremor is a common feature in cervical dystonia (CD) and often less responsive to botulinum neurotoxin (BoNT) treatment than dystonic posturing. Ultrasound allows accurate targeting of deeper neck muscles. METHODS:In 35 CD patients with dystonic head tremor the depth and thickness of the splenius cap...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2017.07.034
更新日期：2017-11-01 00:00:00
abstract：:Serious adverse effects with antichoreic drugs can occur in patients with acute Sydenham's chorea (SC). The response to conventional treatment in severe SC may also be poor. Thus alternative therapeutic strategies have been developed. We report on four patients with severe acute SC (two with chorea paralytica and two ...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2005.02.007
更新日期：2005-08-01 00:00:00
abstract：INTRODUCTION:Cognitive impairment can occur in the early phase of Parkinson's disease and increases the risk of developing dementia. Cognitive deficits were shown to be associated with functional alterations in the dorsolateral prefrontal cortex (DLPFC) and caudate nucleus. Two previous transcranial magnetic stimulatio...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章,随机对照试验
doi：10.1016/j.parkreldis.2019.07.006
更新日期：2019-09-01 00:00:00
abstract：BACKGROUND:Apathy is a common neuropsychiatric syndrome in Parkinson's Disease (PD) that affects quality of life. Research into apathy has been hampered by a lack of broadly accepted diagnostic criteria. Recently, diagnostic criteria for apathy in neuropsychiatric disorders have been proposed, which to date have not be...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2010.08.015
更新日期：2010-12-01 00:00:00
abstract：:We used electrophysiological methods to study the hyperkinetic movement disorders in a pallido-ponto-nigral degeneration (PPND) family, which harbors the N279K tau gene mutation. Our purpose was to: (1). characterize the tremor patterns, (2). characterize the myoclonus physiology, (3). determine whether electrophysiol...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/s1353-8020(02)00034-2
更新日期：2003-01-01 00:00:00
abstract：:Since the early 1970s, the literature has suggested an association between Parkinson's Disease (PD) and/or levodopa-use and an increased risk for the development of malignant melanoma. In some countries, this possible association has even led to a warning in the drug insert leaflet of the possible risk. Recently, five...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章,评审
doi：10.1016/j.parkreldis.2009.05.002
更新日期：2009-09-01 00:00:00
abstract：:We report on two cases who presented with involuntary facial grimacing and frowning. Blepharospasm has never been documented in one, and the other case showed difficulty in lid opening only in the early phase of the disease. Botulinum toxin was effective for both. This is a hitherto unreported presentation of upper fa...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2007.12.001
更新日期：2008-11-01 00:00:00
abstract：BACKGROUND:Isolated action tremor (IAT) is the hallmark clinical feature of essential tremor (ET), but it may also be a prominent feature of some individuals with Parkinson's disease (PD) suggesting a pathogenic relationship between these two disorders. OBJECTIVES:We investigated the integrity of the striatal presynap...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2011.08.025
更新日期：2012-01-01 00:00:00
abstract：OBJECTIVE:Several evidences demonstrated the role of white matter (WM) lesions in the pathogenesis of Vascular Parkinsonism (VP), a clinical entity characterized by parkinsonism, postural instability, marked gait difficulty and poor response to levodopa. However, the involvement of normal appearing white matter (NAWM) ...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2019.02.046
更新日期：2019-06-01 00:00:00
abstract：BACKGROUND:Microstructural white matter integrity captured by diffusion-tensor imaging (DTI) is significantly more affected in progressive supranuclear palsy-Richardson's syndrome (PSP-RS) compared to PSP-parkinsonism (PSP-P). OBJECTIVES:To characterize the microstructural integrity of large fascicular bundles using s...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2020.02.007
更新日期：2020-03-01 00:00:00
abstract：BACKGROUND:Deep brain stimulation improves motor function and quality of life in patients with Parkinson's disease. The impact of these changes on patients' spouses is largely unknown. METHODS:Twenty-six spouses of patients undergoing surgery were evaluated before and 12 months after surgery, using the 36-Item Short F...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2011.11.008
更新日期：2012-06-01 00:00:00
abstract：OBJECTIVES:To investigate the frequency and the different types of psychiatric disturbances in PSP patients using validated psychiatric instruments. METHODS:We conducted a case-control study using the Structured Clinical Interview (SCID-I) for DSM-IV to investigate psychiatric disorders in 28 PSP patients and 28 age a...
journal_title：Parkinsonism & related disorders
pub_type： 临床试验,杂志文章
doi：10.1016/j.parkreldis.2014.05.015
更新日期：2014-09-01 00:00:00
abstract：:Parkinson's disease (PD) is the most common neurodegenerative movement disorder. Currently, no curative treatments or treatments that interdict disease progression are available. Over the past decade, immunization strategies were developed in our laboratories to combat disease progression. These strategies were develo...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章,评审
doi：10.1016/S1353-8020(11)70067-0
更新日期：2012-01-01 00:00:00
abstract：OBJECTIVE:To investigate the indications and the outcomes of gastrostomy tube insertion in patients with parkinsonian syndromes. METHODS:Consecutive patients with Parkinson's disease or atypical parkinsonism, seen in two French tertiary referral movement disorders centers, that received gastrostomy tube insertion (GTI...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2017.06.012
更新日期：2017-10-01 00:00:00
abstract：BACKGROUND:Japan and the United States (US) have different cultures of caregiving including differences in family structure and social programs that may influence caregiver strain. Differences in caregiver strain between regions in Japan and in the US have not been investigated in patient-spouse dyads in PD. OBJECTIVE...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2013.02.014
更新日期：2013-06-01 00:00:00
