Abstract:
INTRODUCTION:PLA2G6-associated neurodegeneration (PLAN) comprises a continuum of three phenotypes with overlapping clinical and radiologic features. METHODS:Observational clinical study in a cohort of infantile and childhood onset PLAN patients and genetic analysis of the PLA2G6 gene. We analysed chronological evolution in terms of age at onset and disease course through a 66-item questionnaire. We performed qualitative and quantitative assessment of MRI abnormalities and searched for clinical and radiological phenotype and genotype correlations. RESULTS:Sixteen PLAN patients (mean age: 10.2 years, range 3-33) were evaluated, with a median onset (years) of signs/symptoms as follows: neurological regression (1.5), oculomotor abnormalities (1.5), hypotonia (1.8), gait loss (2.2), pyramidal signs (3.0), axonal neuropathy (3.0), dysphagia (4.0), optic atrophy (4.0), psychiatric symptoms (4.0), seizures (5.9), joint contractures (6.0), dystonia (8.0), bladder dysfunction (13.0) and parkinsonism (15.0). MRI assessment identified cerebellar atrophy (19/19), brain iron deposition (10/19), clava hypertrophy (8/19) and T2/FLAIR hyperintensity of the cerebellar cortex (6/19). The mid-sagittal vermis relative diameter (MVRD) correlated with age at onset of clinical variants, meaning that the earlier the onset, the more severe the cerebellar atrophy. All patients harboured missense, nonsense and frameshift mutations in PLA2G6, including four novel variants. CONCLUSIONS:Cerebellar atrophy was a universal radiological sign in infantile and childhood onset PLAN, and correlated with the severity of the phenotype. Iron accumulation within the globus pallidum and substantia nigra was also a common and strikingly uniform feature regardless of the phenotype.
journal_name
Parkinsonism Relat Disordjournal_title
Parkinsonism & related disordersauthors
Darling A,Aguilera-Albesa S,Tello CA,Serrano M,Tomás M,Camino-León R,Fernández-Ramos J,Jiménez-Escrig A,Poó P,O'Callaghan M,Ortez C,Nascimento A,Fernández Mesaque RC,Madruga M,Arrabal L,Roldan S,Gómez-Martín H,Garrido Cdoi
10.1016/j.parkreldis.2018.10.013subject
Has Abstractpub_date
2019-04-01 00:00:00pages
179-186eissn
1353-8020issn
1873-5126pii
S1353-8020(18)30447-4journal_volume
61pub_type
杂志文章,多中心研究abstract:BACKGROUND:Many patients with Parkinson's disease (PD) suffer from sialorrhea. Sialorrhea is often treated with anticholinergics and botulinum toxin, but some adverse effects have limited the use of these treatments. Dihydroergotoxine mesylate is an α-adrenergic blocking agents as well as some affinities to the dopamin...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章,随机对照试验
doi:10.1016/j.parkreldis.2018.08.022
更新日期:2019-01-01 00:00:00
abstract:PURPOSE:Fall-related fracture is one of the most disabling features of idiopathic Parkinson's disease (PD). A better understanding of the associated factors is needed to predict PD patients who will require treatment. METHODS:This prospective study enrolled 100 adult idiopathic PD patients. Stepwise logistic regressio...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2013.09.024
更新日期:2014-01-01 00:00:00
abstract::The immunohistochemical demonstration of reactive microglia and activated complement components suggests that chronic inflammation occurs in affected brain regions in Parkinson's disease (PD). Evidence from humans and monkeys exposed to MPTP indicates this inflammation may persist many years after the initial stimulus...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章,评审
doi:10.1016/j.parkreldis.2004.01.005
更新日期:2004-05-01 00:00:00
abstract::The pedunculopontine nucleus (PPN) is a brainstem locomotive center that also processes sensory and behavioral information. Through its connections with basal ganglia structures and the spinal cord, the PPN may play a role in axial motor symptoms in Parkinson's disease (PD). We review the anatomical features of the PP...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章,评审
doi:10.1016/S1353-8020(08)70016-6
更新日期:2007-01-01 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:INTRODUCTION:Neurotrophic factors (NTFs) have been evaluated for neuroprotective effects in Parkinson's disease (PD). However, clinical trials examining the efficacy of intracerebral administration of NTFs on motor symptoms in PD have produced mixed results, and are thus inconclusive. The objective of this systematic r...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章,meta分析,评审
doi:10.1016/j.parkreldis.2017.02.011
更新日期:2017-05-01 00:00:00
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::Non motor symptoms (NMS) represent a significant burden in Parkinson's disease (PD) with numerous studies highlighting the importance of NMS both in "pre-motor" phase of PD as well as throughout the course of disease. In part this has led the international Parkinson and Movement Disorder Society (IPMDS) task force to ...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章,评审
doi:10.1016/j.parkreldis.2015.09.027
更新日期:2016-01-01 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::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::Cerebrospinal fluid (CSF) levels of neurofilament light protein (NFL), a marker of neuronal damage, are normal in Parkinson's disease (PD) but elevated in multiple system atrophy (MSA) and progressive supranuclear palsy (PSP). Therefore, CSF NFL can help differentiate between PD on one hand and MSA/PSP on the other. I...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2009.07.007
更新日期:2010-02-01 00:00:00
abstract::Over the last decade, several autosomal dominant and recessive genes causative of Parkinson's disease (PD) have been identified. The functional studies on their protein products and the pathogenetic effect related to their mutations have greatly contributed to understand the many cellular pathways leading to neurodege...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章,评审
doi:10.1016/S1353-8020(11)70023-2
更新日期:2012-01-01 00:00:00
abstract::The alpha-synuclein gene (SNCA) multiplication causes autosomal dominant Parkinson Disease (PD): triplication is associated with early-onset rapidly progressing parkinsonism with a strong likelihood of developing dementia, while duplication is associated with a less severe phenotype similar to idiopathic PD. We tested...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2009.09.008
更新日期:2010-03-01 00:00:00
abstract:OBJECTIVE:To describe the long-term outcome in 50 consecutive advanced Parkinson's disease (PD) patients treated with subthalamic nucleus deep brain stimulation (STN-DBS). METHOD:Assessments were carried out at baseline, 6 months, 2 years, and 5 years postoperatively. RESULTS:Compared to baseline scores without medic...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2007.06.012
更新日期:2008-01-01 00:00:00
abstract:INTRODUCTION:We performed a systematic review and Bayesian network meta-analysis to clarify the relative efficacy and safety of pimavanserin compared to atypical antipsychotics for psychosis in Parkinson's disease (PD). METHODS:PubMed, Embase, Cochrane Central Register of Controlled Trials, and Japana Centra Revuo Med...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2020.07.021
更新日期:2020-09-01 00:00:00
abstract:OBJECTIVE:We report a prospective, open label study of 24 h levodopa-carbidopa intestinal gel (LCIG) as treatment for levodopa "unresponsive" freezing of gait (FOG) associated with Parkinson's disease. METHOD:5 patients with disabling FOG, documented as being levodopa "unresponsive", were commenced on continuous 24 h ...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2014.12.019
更新日期:2015-03-01 00:00:00
abstract:BACKGROUND/OBJECTIVE:Essential tremor (ET) can diminish functioning and quality of life (QOL) but generic QOL measures may be relatively insensitive to ET and its therapies. We sought to develop an ET-specific measure that might be more sensitive, acceptable to patients, relatively brief, and easily used. DESIGN/METHO...
journal_title:Parkinsonism & related disorders
pub_type: 临床试验,杂志文章
doi:10.1016/j.parkreldis.2005.05.009
更新日期:2005-09-01 00:00:00
abstract:INTRODUCTION:There is an unmet need to better control motor complications in Parkinson's disease (PD). Naftazone, which exhibits glutamate release inhibition properties, has shown antiparkinsonian and antidyskinetic activity in preclinical models of PD and in a clinical proof of concept study. METHODS:We conducted a d...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章,多中心研究,随机对照试验
doi:10.1016/j.parkreldis.2018.10.005
更新日期:2019-03-01 00:00:00
abstract::Approximately 10% of patients with a presumed diagnosis of Parkinson's disease (PD) remain misdiagnosed despite recent advances in neuroimaging. The current study addresses the use of transcranial sonography and single-photon emission computed tomography (SPECT) using (99m)Tc-TRODAT-1 to evaluate the echogenicity of t...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2014.01.015
更新日期:2014-05-01 00:00:00
abstract::There has been a tremendous development since a regional progression of pathology in subjects with Lewy bodies (LB) was initially proposed 30 years ago. The entity of dementia with Lewy bodies has been acknowledged, the main protein constituent of LBs--aggregated α-synuclein (αS)--has been identified and a stepwise pr...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章,评审
doi:10.1016/S1353-8020(13)70016-6
更新日期:2014-01-01 00:00:00
abstract:BACKGROUND:Given the heterogeneity of mild cognitive deficits in non-demented Parkinson's disease (PD), sensitive and anatomically specific behavioural measures are crucial when evaluating cognition in this patient group. Inhibitory dysfunction is one such deficit increasingly being recognised in non-demented PD; howev...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2013.04.020
更新日期:2013-09-01 00:00:00
abstract:INTRODUCTION:Patients with Parkinson disease (PD) often develop psychosis (P). The association of PDP with death and long-term custodial care (CC) has not been well studied. METHODS:Medicare Parts A, B, and D data, 2007-2015, were used to define cohorts of PD and PDP patients. PD was defined by ≥ 2 ICD-9-CM codes (332...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2019.10.018
更新日期:2019-11-01 00:00:00
abstract:INTRODUCTION:Increasing evidence demonstrates the relevant association between Parkinson's disease (PD) and vascular diseases/risk factors, as well as a worse clinico-pathological progression in those patients with vascular comorbidity. The mechanisms underlying this relationship have not been clarified yet, although t...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2020.04.004
更新日期:2020-05-01 00:00:00
abstract:OBJECTIVES:Limited data currently exists within the UK addressing the level of Parkinson's disease (PD) healthcare provision. We investigated whether care for PD patients in a UK community met national guidelines, and the determinants of sub-optimal care for this patient group. METHODS:340 PD patients were identified ...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2010.12.012
更新日期:2011-03-01 00:00:00
abstract:BACKGROUND:Tremor-related quality of life is a multi-dimensional concept that reflects the physical, emotional and other health effects of tremor. Curiously, tremor-related quality of life has never been directly compared in patients with the two major tremor disorders, essential tremor (ET) and Parkinson's disease (PD...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2015.04.019
更新日期:2015-07-01 00:00:00
abstract:INTRODUCTION:The aim of this study was to examine the association between mild parkinsonian signs (MPS), cerebral small-vessel disease (SVD), and total SVD burden in patients with vascular risk factors. METHODS:We performed a cross-sectional study among 268 patients with vascular risk factors but without parkinsonism ...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2016.02.011
更新日期:2016-05-01 00:00:00
abstract:INTRODUCTION:The sonographic appearance of the substantia nigra is abnormally bright and enlarged (hyperechogenic) in young adults with a history of illicit stimulant use. The abnormality is a risk factor for Parkinson's disease. The aim of the current study was to identify the type of illicit stimulant drug associated...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2016.02.019
更新日期:2016-04-01 00:00:00
abstract::Orthostatic hypotension is common in Parkinsonian patients. It is probably caused by reduced noradrenaline (NA) release. This effect is further enhanced by therapeutic use of ergot alkaloid dopamine agonists. In this trial we studied the impact of the non-ergot dopamine agonist ropinirole on blood pressure and noradre...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/s1353-8020(98)00014-5
更新日期:1998-08-01 00:00:00
abstract::Parkinson's disease (PD) patients have a ninefold increased risk of recurring falls compared to healthy controls. The risk of falling due to cardiovascular dysautonomia (CVD) is not quantifiable. But, CVD is an integral part of the disease and at least 20% of PD patients suffer from orthostatic hypotension, an express...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章,评审
doi:10.1016/j.parkreldis.2006.02.001
更新日期:2006-05-01 00:00:00
abstract::The 'hung-up' knee jerk (HUKJ) is a specific, although rarely appreciated, clinical sign of Huntington's Disease. A HUKJ was present in 11 of 31 consecutive patients with Huntington's Disease seen in our practice. The clinical characteristics of these patients are described and an EMG recording of the HUKJ is presente...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/s1353-8020(02)00095-0
更新日期:2003-06-01 00:00:00