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 the expanded pedigree, a total of 25 individuals had Parkinson's disease with an autosomal dominant pattern of inheritance. Hereditary dementia, and, historically, dementia praecox have been described in other family members. Furthermore, an autosomal recessively inherited pediatric disease with nocturnal tonic-clonic fits, subsequent progressive myoclonus, startle reactions, tremor and muscle rigidity was described by Lundborg in the same pedigree. The entity was later designated Unverricht-Lundborg disease (ULD) or progressive myoclonus epilepsy type 1 (EPM1). However, Lundborg's clinical description of this disease, based on 17 patients within this kindred, differs from the modern definition of EPM1, which relies on patients with a mutation in the cystatin B (CSTB) gene. We hypothesize that the former pediatric disease, as well as the parkinsonism and dementia phenotypes, are associated with duplications, triplications and possibly higher-order multiplications of the alpha-synuclein (SNCA) gene. This hypothesis is supported by the distribution of afflicted family members within the pedigree and by recently obtained genealogical information.
journal_name
Parkinsonism Relat Disordjournal_title
Parkinsonism & related disordersauthors
Puschmann A,Wszolek ZK,Farrer M,Gustafson L,Widner H,Nilsson Cdoi
10.1016/j.parkreldis.2008.08.002subject
Has Abstractpub_date
2009-06-01 00:00:00pages
390-2issue
5eissn
1353-8020issn
1873-5126pii
S1353-8020(08)00239-3journal_volume
15pub_type
杂志文章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：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：: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：: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
abstract：INTRODUCTION:The patho-physiological basis for finger dexterity deficits in Parkinson's disease (PD) is controversial. Previously, bradykinesia was regarded as the major mechanism. However, recent research suggested limb-kinetic apraxia as an important component of impaired fine motor skills in PD. In contrast to brady...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2014.12.025
更新日期：2015-03-01 00:00:00
abstract：:Several forms of autosomal recessive parkinsonism are known. In three forms, caused by mutations in parkin (PARK2), PINK1 (PARK6), or DJ-1 (PARK7), the phenotype is usually characterized by levodopa-responsive parkinsonism without atypical features. Parkin mutations are most frequent, explaining -50% of the cases with...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章,评审
doi：10.1016/S1353-8020(11)70004-9
更新日期：2012-01-01 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：:A confluence of variables in Parkinson's disease results in Parkinson's informal caregivers facing tremendous challenges. Factors include: motor and non-motor symptoms, staging, rate of progression and increased life expectancy of people with Parkinson's (PwP) due to effective drug therapy and surgery. Informal caregi...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/S1353-8020(09)70796-5
更新日期：2009-12-01 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 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：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：:There is evidence that astrocytes and microglia can release agents which might have a protective effect on damaged neurons. However the associations of glia with dopaminergic neurons in Parkinson's disease are not defined. Our studies showed that in post mortem parkinsonian nigra healthy neuronal somata were enveloped...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/s1353-8020(99)00022-x
更新日期：1999-09-01 00:00:00
abstract：:Parkinson's disease (PD) studies often measure daily motor function with paper diaries resulting in issues of compliance and reliability. The feasibility and compliance of PD patients using electronic diaries were examined. Twelve patients completed diaries for 7 consecutive days. Diaries recorded motor function, time...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2006.06.008
更新日期：2007-07-01 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：:We evaluated an association between essential tremor (ET) and the Parkinson's disease (PD) genes, Leucine Rich Repeat Kinase 2 (LRRK2) and Glucocerebrosidase (GBA). Clinical studies demonstrate an association between ET and PD, suggesting possible shared pathophysiologies, yet LRRK2 has rarely been studied in ET, and ...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2009.05.008
更新日期：2010-02-01 00:00:00
abstract：BACKGROUND:Impulse control disorders in Parkinson's disease are a potential consequence of dopaminergic therapy. Impulse control problems might be revealed by intertemporal choice tasks which entail to forgo an immediately available reward in favor of a larger but later reward. The steepness of the discounting curve ca...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2015.09.026
更新日期：2015-11-01 00:00:00
abstract：BACKGROUND:Non-motor symptom (NMS) differences between male Parkinson's disease (PD) and female PD, and between early-onset PD (EOPD) and late-onset PD (LOPD) in Chinese populations remain largely unknown. METHODS:A total of 522 PD patients from Southwest China were included. Patients were assessed using the Non-Motor...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2013.06.009
更新日期：2013-11-01 00:00:00
abstract：BACKGROUND:Visual hallucinations are an important non-motor complication of Parkinson's disease (PD) and carry a negative prognosis. Their biological basis is uncertain, but may relate to the activity of resting state networks in brain. We therefore aimed to investigate functional activity of brain in patients with vis...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2014.11.020
更新日期：2015-02-01 00:00:00
abstract：:Primary monogenic forms of dystonia manifest solely or mainly with dystonia; they have been linked to a number of genes and loci and assigned "DYT" numbers. The pure dystonia syndrome early-onset primary dystonia (DYT1) manifests with dominantly-inherited generalized dystonia, often with focal onset in a limb. DYT1 is...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章,评审
doi：10.1016/S1353-8020(11)70049-9
更新日期：2012-01-01 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：INTRODUCTION:Deep brain stimulation of subthalamic nucleus (STN-DBS) for Parkinson's disease allows for a reduction in medication dosage. Changes in total levodopa equivalent daily dose (LEDD) have been frequently reported, there is little information about changes within the drug classes. METHODS:We retrospectively a...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2015.03.003
更新日期：2015-06-01 00:00:00
abstract：:We examined the autopsied brains of two parkinsonian patients who had malignant syndrome (MS). Neopterin and biopterin contents, and GTP cyclohydrolase I activity were measured in various region of the brain. We found relatively higher GTP cyclohydrolase I activities in the hypothalamus compared with other regions of ...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/s1353-8020(02)00120-7
更新日期：2003-04-01 00:00:00
abstract：BACKGROUND:Deep brain stimulation of the internal pallidum (GPi-DBS) is effective for various types of drug-refractory primary dystonias. Rare clinical forms as dystonic camptocormia may profit but available data are scarce. METHODS:We here report on a retrospective clinical assessment of three patients with primary d...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2013.10.022
更新日期：2014-02-01 00:00:00
abstract：BACKGROUND:IPX066, an investigational extended-release carbidopa-levodopa (CD-LD) preparation, has demonstrated a rapid attainment and prolonged maintenance of therapeutic LD plasma concentrations in advanced Parkinson's disease (PD). This phase-3 crossover study assessed its efficacy and safety vs. CD-LD plus entacapo...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章,随机对照试验
doi：10.1016/j.parkreldis.2014.08.004
更新日期：2014-12-01 00:00:00
abstract：:Parkinson's disease (PD) is a common neurodegenerative disorder that produces progressive disability despite symptomatic treatment. Several strategies, including stereotaxic brain lesions, deep brain stimulation, transplants of dopamine cells and administration of neurotrophic factors, have been proposed to improve ef...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/s1353-8020(02)00005-6
更新日期：2002-06-01 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：PURPOSE:The young-onset subtype of Parkinson's disease (YOPD) differs from the late-onset subtype (LOPD) in drug responsiveness, incidence of motor complications, and prognosis. The pathophysiology underlying these differences remains largely unknown. This study investigated whether the two subtypes differ in the patte...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2015.10.017
更新日期：2015-12-01 00:00:00
abstract：:We report a cluster of five cases of Parkinson's disease (PD) among paper mill workers exposed to a fungicide, diphenyl. The cause of PD is still unknown, but epidemiological studies have indicated an elevated risk of developing PD after exposure to pesticides. The five cases of PD were found in a group of 255 dipheny...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2005.06.010
更新日期：2006-01-01 00:00:00
abstract：INTRODUCTION:We aimed to assess, in patients with Parkinson's disease (PD), the association between obstructive sleep apnea (OSA), progression of motor dysfunction and the effect of OSA treatment. METHODS:Data were analysed from a prospective cohort study of idiopathic PD patients from a movement disorders clinic. Pat...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2019.12.001
更新日期：2020-01-01 00:00:00
abstract：BACKGROUND:The prevalence and clinical correlates of drooling in Chinese patients with Parkinson disease (PD) are unknown. METHODS:A cross-sectional analysis of 518 Chinese patients with PD was conducted. Assessments included Unified PD Rating Scale (UPDRS), Non-Motor Symptoms Scale (NMSS), Hamilton Depression Scale (...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2014.12.004
更新日期：2015-03-01 00:00:00
