Abstract:
:Benign hereditary chorea (BHC, MIM 118700) is a rare autosomal dominant disorder manifesting with chorea in conjunction with hypothyroidism and respiratory problems, a triad also named "brain-lung-thyroid syndrome". BHC is characterized by childhood onset with minimal or no progression into adult life and normal cognitive function. The genetic basis of BHC has been partially resolved, when mutations in the TTF1 gene on chromosome 14q13 encoding the thyroid transcription factor-1 have been identified in a number of BHC patients, suggesting that aberration of TTF1 transcriptional function or haploinsufficiency is associated with this disorder. TTF1 (also known as TITF1, TEBP or NKX2-1), belonging to the NKX2 homeodomain transcription factor family, has been implicated in several important molecular pathways essential for brain, thyroid and lung morphogenesis. Clinical evaluation of TTF1 gene mutations carrier patients exposed the involvement of each of the triad's components characterized by heterogeneity between index cases and even within families. This review highlights the current updates on expanded clinical aspects of BHC, imaging and treatment experience, its genetic markers, proposed molecular mechanisms, animal models and link to cancer.
journal_name
Parkinsonism Relat Disordjournal_title
Parkinsonism & related disordersauthors
Inzelberg R,Weinberger M,Gak Edoi
10.1016/j.parkreldis.2011.01.002subject
Has Abstractpub_date
2011-06-01 00:00:00pages
301-7issue
5eissn
1353-8020issn
1873-5126pii
S1353-8020(11)00005-8journal_volume
17pub_type
杂志文章,评审abstract:INTRODUCTION:Camptocormia is defined as an involuntary, marked flexion of the thoracolumbar spine appearing during standing or walking and resolving in the supine position or when leaning against a wall. However, there is no established agreement on the minimum degree of forward flexion needed to diagnose camptocormia....
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2018.04.033
更新日期:2018-08-01 00:00:00
abstract:OBJECTIVE:The aim of this study was to compare the short- and long-term outcomes of bilateral subthalamic nucleus deep brain stimulation (STN-DBS) in Parkinson's disease (PD) patients with and without probable REM sleep behavior disorder (RBD). METHODS:We retrospectively reviewed 127 patients who underwent bilateral S...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2020.06.031
更新日期:2020-12-01 00:00:00
abstract:INTRODUCTION:There is considerable intra- and inter-individual variability in the pharmacokinetics (PK) of levodopa after oral administration. Inter-individual variability in levodopa PK has also been demonstrated in fasting single-dose studies. We examined the factors that affect levodopa PK in patients with Parkinson...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2020.05.020
更新日期:2020-07-01 00:00:00
abstract::Although there is growing support for the existence of memory deficits within Parkinson's disease (PD), little has been done to evaluate the extent to which PD patients demonstrate differences in their use of metacognitive strategies. In the present study, 79 PD patients (46 men and 33 women) and 49 age-matched health...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2004.06.005
更新日期:2005-03-01 00:00:00
abstract::Essential tremor (ET) is among the common movement disorders. A surge in research in recent years has considerably improved our understanding of disease etiology and pathogenesis, and its associated clinical phenomenology and natural history. With this progress have emerged a multitude of new questions and conundrums ...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2020.10.035
更新日期:2020-12-01 00:00:00
abstract:BACKGROUND:Clinical differentiation between parkinsonian syndromes (PS) remains a challenge despite well-established clinical diagnostic criteria. Specific diagnostic biomarkers have yet to be identified, though in recent years, studies have been published on the aid of certain brain related proteins (BRP) in the diagn...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2011.08.012
更新日期:2012-01-01 00:00:00
abstract:BACKGROUND:In late stage Parkinson patients there is an unmet need for new treatments to adequately control motor complications, especially dyskinesias. In several preliminary studies, it has been suggested that applying unilateral low-frequency repetitive transcranial magnetic stimulation (LF rTMS), delivered at the p...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2015.11.009
更新日期:2016-01-01 00:00:00
abstract:INTRODUCTION:Deep brain stimulation (DBS) is an effective treatment in medically resistant cervical dystonia (CD) with a documented therapeutic effect. Long term outcome beyond a decade, however, has not been studied systematically. METHODS:To investigate the impact of pallidal DBS beyond 10 years in CD we followed a ...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2020.10.028
更新日期:2020-12-01 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::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::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::Acute dystonic reactions are usually observed after exposure to drugs with antidopaminergic actions. We report on one patient with acute dystonia associated with ingestion of a cloperastine containing syrup, who suffered from schizophrenia but had been neuroleptic-free for 6months. Cloperastine has antihistaminic prop...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/s1353-8020(99)00042-5
更新日期:2000-01-01 00:00:00
abstract::Moclobemide, a potent reversible monoamine-oxidase A (MAO-A) inhibitor, is an effective antidepressant that does not cause impairment of cognitive function in elderly patients and might be beneficial to motor deficits in Parkinson's disease (PD). In a 12-week open-label prospective study, we administered moclobemide (...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/s1353-8020(97)00028-x
更新日期:1997-12-01 00:00:00
abstract:BACKGROUND:Multiple system atrophy (MSA) can clinically be divided into the cerebellar (MSA-C) and the parkinsonian (MSA-P) variants. It is unknown whether the variation in clinical expression is also reflected by a different underlying neurochemical profile. METHODS:We analyzed brain specific proteins and neurotransm...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2007.02.002
更新日期:2007-12-01 00:00:00
abstract::We describe a 30-year-old woman who suffered from an unusual task-specific focal hand dystonia, which dominantly occurred with use of a spoon; there were no other activities affected, except for mild writer's dystonia on same side. This is the first report of a spoon-related focal dystonia. ...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2006.12.008
更新日期:2008-01-01 00:00:00
abstract::The MPTP-treated primate has proved to be a highly predictive model of the effects of dopaminergic drugs in the symptomatic treatment of Parkinson's disease (PD) and for the avoidance of motor complications. Using MPTP-treated primates, new dopaminergic therapies have been devised alongside novel treatment strategies ...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章,评审
doi:10.1016/S1353-8020(09)70829-6
更新日期:2009-12-01 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:INTRODUCTION:The deep brain stimulation (DBS) withdrawal syndrome (DBS-WDS) is a rare, life-threatening complication in Parkinson's disease (PD) patients with long disease duration and stimulation when stimulation is terminated for extended periods mostly due to infection of the DBS-hardware. METHODS, RESULTS:In five ...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2018.06.035
更新日期:2018-11-01 00:00:00
abstract:OBJECTIVE:Mutations in the GBA gene are associated with Parkinson's disease (PD). A definite description of the clinical characteristics of PD patients who are compound heterozygotes or homozygotes for mutations in the GBA gene (GD-PD) requires further elucidation. METHODS:We assessed motor, cognitive, olfactory and a...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2016.12.014
更新日期:2017-03-01 00:00:00
abstract:BACKGROUND:Non-motor symptoms in Parkinson's disease (PD), such as cognitive, emotional, autonomic and somatosensory alterations, are not ubiquitous but vary between the tremor dominant (TD) and postural instability/gait difficulty (PIGD) subtypes of the syndrome. Non-motor phenomena (e.g., anxiety, depression and apat...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2018.05.001
更新日期:2018-08-01 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::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:BACKGROUND:Many patients with advanced Parkinson's disease (PD) are reluctant to undergo the subthalamic nucleus deep brain stimulation (STN-DBS) when surgery is warranted. Reasons for this reluctance have not been examined. We undertook to establish the rate and causes of this reluctance for STN-DBS in patients with a...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2015.11.010
更新日期:2016-02-01 00:00:00
abstract::The purpose of this preliminary study was to investigate the inter-rater reliability among physician, patient, and caregiver ratings on the Hoehn & Yahr (H & Y) and Schwab & England (S & E) rating instruments. We also examined differences in ratings between patients who attended clinic with and without caregivers (spo...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/s1353-8020(01)00009-8
更新日期:2002-01-01 00:00:00
abstract::Although the subspeciality of movement disorders was established in neurology more than 20 years ago, it is relatively new in Thailand, and while most physicians are generally aware of Parkinson's disease, they often are not familiar with dystonia. As one of the common movement disorders seen in general practice, a nu...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2011.06.014
更新日期:2011-11-01 00:00:00
abstract:BACKGROUND:Mutations in GNAL have recently been identified as responsible for primary dystonia, however, GNAL mutations in Chinese patients with primary dystonia are not well characterized. PATIENTS AND METHODS:Fifty-nine unrelated patients with cervical onset or cervical involved primary dystonia and 120 neurological...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2013.05.011
更新日期:2013-10-01 00:00:00
abstract::The aim of the present study was to evaluate complex upper limb motor function in newly diagnosed, untreated Parkinson's disease (PD) patients. Four different unimanual upper limb motor tasks were applied to 13 newly diagnosed, untreated PD patients and 13 age- and sex-matched controls. In a handwriting task, PD patie...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2007.07.019
更新日期:2008-01-01 00:00:00
abstract:INTRODUCTION:There is a dearth of studies of spinocerebellar ataxias (SCAs) and diffusion tensor magnetic resonance imaging (DTI). OBJECTIVE:To analyze changes observed in DTI parameters and correlate these to clinical findings in SCA3 and SCA10 patients. METHODS:SCA3 (n = 19) and SCA10 (n = 18) patients were compare...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2020.06.460
更新日期:2020-09-01 00:00:00
abstract::We report 27 cases of delayed-onset dystonia in patients with antecendents of perinatal asphyxia after excluding other possible causes of dystonia. The patients were 16 males and 11 females (mean +/- SD age at onset of dystonia = 13.0 +/- 9.4 yr). Adverse obstetric and/or perinatal events were presented by 20 patients...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/s1353-8020(96)00035-1
更新日期:1997-01-01 00:00:00
abstract::The goal of genetic association studies is to identify common (>5%) risk factors in complex disease traits. Herein we describe the first replicable 'functional' risk allele for Parkinson's disease. The leucine-rich repeat kinase 2 (Lrrk2) G2385R substitution is associated with familial parkinsonism, late-, and early-o...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2006.12.001
更新日期:2007-03-01 00:00:00