Abstract：
INTRODUCTION:Mutations in GNAL have been associated with adult-onset cranio-cervical dystonia, but a limited number of cases have been reported so far and the clinical spectrum associated with this gene still needs to be fully characterized. METHODS:We identified an Italian family with adult-onset, dominantly-inherited dystonia whose members presented with different combinations of dystonia affecting the cervical, oro-mandibular and laryngeal regions associated with prominent tremor in some cases. Pure asymmetric upper limb dystonic tremor was present in one of the members and jerky cervical dystonia was also observed. A dedicate dystonia gene panel (Illumina) was used to screen for dystonia-associated genes and Sanger sequencing was performed to confirm results obtained and to perform segregation analysis. RESULTS:A novel single-base mutation in GNAL exon 9 (c.628G>A; p.Asp210Asn) leading to an aminoacidic substitution was identified and confirmed by Sanger sequencing. In silico prediction programmes as well as segregation analysis confirmed its pathogenicity. Clinically, no generalization of dystonia was observed after onset and DBS lead to an excellent motor outcome in two cases. CONCLUSION:We report a novel GNAL mutation and expand the clinical spectrum associated with mutations in this gene to comprise pure asymmetric dystonic tremor and a jerky cervical phenotype partially mimicking DYT11 positive cases.
journal_name
Parkinsonism Relat Disordjournal_title
Parkinsonism & related disordersauthors
Carecchio M,Panteghini C,Reale C,Barzaghi C,Monti V,Romito L,Sasanelli F,Garavaglia Bdoi
10.1016/j.parkreldis.2015.12.012subject
Has Abstractpub_date
2016-02-01 00:00:00pages
66-71eissn
1353-8020issn
1873-5126pii
S1353-8020(15)30065-1journal_volume
23pub_type
杂志文章abstract：:Dyskinesia is an important complication of treatment in Parkinson's disease (PD). Sarizotan, a 5-HT(1A) agonist with high affinity for D3 and D4 receptors was investigated on L-Dopa-induced dyskinesia (LID) in the 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP) animal model of PD. Five MPTP female cynomolgus monke...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2008.11.001
更新日期：2009-07-01 00:00:00
abstract：:This letter to the editor acknowledges the contribution of Akbar et al. to the field of tardive dyskinesia (TD) and provides important regulatory information about the potential for parkinson-like symptoms in patients with TD who are treated with valbenazine. ...
journal_title：Parkinsonism & related disorders
pub_type： 评论,信件
doi：10.1016/j.parkreldis.2020.01.011
更新日期：2020-02-01 00:00:00
abstract：:A prevalence survey of movement disorders, epilepsy, hypertension and smoking was undertaken in Vejer de la Frontera, Southern Spain in 1988. A validated screening instrument designed for door-to-door tracing of specific disorders was used. Neurological diagnoses were based on: (1) direct anamnesis and examination by ...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/s1353-8020(96)00021-1
更新日期：1996-10-01 00:00:00
abstract：INTRODUCTION:Our objective was to compare the relative value of elements of the motor system in predicting the physical mobility domain of health related quality of life in patients with Parkinson's disease in order to specify targets for intervention. METHODS:In this cross-sectional study, the Parkinson's disease que...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2011.07.004
更新日期：2011-11-01 00:00:00
abstract：:This study presents data on the antemortem evaluations of a cohort of individuals registered in a brain donation program. Clinical evaluation determined that many individuals were unaware they had clinical signs of Parkinson's disease (PD) (rest tremor, bradykinesia, rigidity). Quantitative motor testing (timed tappin...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/s1353-8020(02)00012-3
更新日期：2002-12-01 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：BACKGROUND:Effects on non-motor symptoms, mainly cognitive and psychiatric side effects, could influence the decision for either globus pallidus pars interna (GPi) or subthalamic nucleus (STN) deep brain stimulation (DBS) for patients with Parkinson's disease (PD). OBJECTIVE:1) To compare cognitive and psychiatric out...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章,多中心研究
doi：10.1016/j.parkreldis.2016.09.018
更新日期：2016-12-01 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
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：:Tardive dyskinesia (TD) is a common, iatrogenic movement disorder affecting many individuals treated with dopamine-receptor blocking agents (DRBAs). Studying treatment of TD can be complex, as the symptoms can be affected by changes in either dosage or type of DRBA, as well as by the variable natural course of the dis...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章,评审
doi：10.1016/j.parkreldis.2018.12.022
更新日期：2019-02-01 00:00:00
abstract：INTRODUCTION:123I-MIBG is the most commonly used radiopharmaceutical to depict cardiac sympathetic innervation. The purpose of this study was to validate the feasibility of 131I-MIBG as an alternative myocardial sympathetic imaging probe in differential diagnosis of Parkinsonism. METHODS:We recruited 17 patients with ...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2018.02.020
更新日期：2018-05-01 00:00:00
abstract：:The H1 haplotype was first identified 10 years ago. Initially, a dinucleotide polymorphism was detected in the tau (MAPT) gene and was subsequently found to be in linkage disequilibrium (LD) with other polymorphisms, forming the MAPT H1 haplotype, a risk factor for many neurological diseases, considered as tauopathies...
journal_title：Parkinsonism & related disorders
pub_type： 历史文章,杂志文章,评审
doi：10.1016/j.parkreldis.2008.03.001
更新日期：2009-01-01 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：BACKGROUND:In addition to the most frequent TOR1A/DYT1 mutation (c.907_909delGAG), a growing number of TOR1A sequence variants are found in dystonia patients. For most, functional characterization has demonstrated pathogenicity at different levels, implying that TOR1A genetic testing should not be limited to screening ...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2015.08.001
更新日期：2015-10-01 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：:Anterograde tract-tracing and immunohistochemical methods were used to study projections from the pedunculopontine tegmental nucleus (PPN) to midbrain dopaminergic neurons in the squirrel monkey (Saimiri sciureus). The PPN harbored numerous cholinergic and glutamatergic neurons, as well as neurons that displayed both ...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/s1353-8020(99)00037-1
更新日期：1999-12-01 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：BACKGROUND:Deep brain stimulation (DBS) is an effective and approved therapy for advanced Parkinson's disease (PD), and a recent study suggests efficacy in mid-stage disease. This manuscript reports the results of a pilot trial investigating preliminary safety and tolerability of DBS in early PD. METHODS:Thirty subjec...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章,随机对照试验
doi：10.1016/j.parkreldis.2014.03.019
更新日期：2014-07-01 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：:Hereditary spastic paraplegia with thin corpus callosum is a rare degenerative disease, which is characterized by a progressive weakness of the lower limbs with a hypoplastic corpus callosum, and is often associated with other symptoms such as mental impairment, amyotrophy, sensory disturbances, dysuria, nystagmus and...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2004.05.003
更新日期：2004-10-01 00:00:00
abstract：:Patients with Parkinson's disease (PD) experience progressive disability and reduced quality of life due to both motor and non-motor complications. The cost of illness escalates as PD progresses, placing an economic burden on the healthcare system, society and patients themselves. Overall cost estimates vary from coun...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章,评审
doi：10.1016/j.parkreldis.2007.06.003
更新日期：2007-09-01 00:00:00
abstract：:Wilson's disease (WD) is a rare inborn metabolic error characterized by deficient biliary copper excretion secondary to ATP7B gene mutations. Neurological presentations are variable in respect to both pattern and age of onset; commonly a movement disorder presents in the second or third decade. The aim of this study w...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2007.08.002
更新日期：2008-01-01 00:00:00
abstract：OBJECTIVE:To investigate whether dopamine transporter (DAT) binding, as measured with single photon emission computed tomography (SPECT), can be used to predict mortality in patients with Parkinson's disease (PD). METHODS:A total of 162 patients with PD and abnormal [I-123]FP-CIT SPECT were clinically followed for a m...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2017.06.013
更新日期：2017-09-01 00:00:00
abstract：INTRODUCTION:Olfactory dysfunction and neuropsychological symptoms like depression and anhedonia are common non-motor symptoms in Parkinson's disease (PD). The assessment of both functional domains includes clinical examination, olfactory testing, and standardized questionnaires. While olfaction is readily assessed by ...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2015.09.035
更新日期：2016-01-01 00:00:00
abstract：:Mean body mass index (BMI) in 100 cases of idiopathic Parkinson's disease (PD) was found to be 9% reduced in comparison to that in patients with either essential tremor or no neurologic disease. A similar reduction in BMI was also discovered among the 24 cases of PD in whom retrospective BMI data were available from t...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2004.07.001
更新日期：2005-01-01 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：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：:Clinicogenetic and pathological studies have shown that mutations of the glucocerebrosidase gene (GBA) are a risk factor for Parkinson's disease and Lewy body disorders. In the present study, we have identified GBA mutations in 6.8% (4/59) of cases with a pathological diagnosis of diffuse Lewy body disease. Taken with...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2010.09.009
更新日期：2011-01-01 00:00:00
abstract：INTRODUCTION:We sought to assess the effect of subthalamic deep brain stimulation (STN DBS) on Parkinson's disease (PD)-associated postural abnormalities. METHODS:A computerized analysis of posture was used to quantify the thoracolumbar, thoracic, and cervical-occipital ventral angles, as well as the thoracolumbar and...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2019.01.003
更新日期：2019-05-01 00:00:00
abstract：BACKGROUND:Parkinson's disease (PD) patients are hospitalized more frequently than their peers as a result of falls, psychosis, infections and other medical complications. However, patient-specific risk factors for hospitalization are unclear. OBJECTIVE:To identify rates and risk factors for hospital encounters (Emerg...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章,多中心研究
doi：10.1016/j.parkreldis.2013.06.006
更新日期：2013-11-01 00:00:00
