Wilson's disease with myoclonus and white matter lesions.


:White matter lesions (WML) and epilepsy have been occasionally seen in Wilson's disease. No cases of generalized myoclonus have been reported so far. We present a patient with psychiatric symptoms starting at age 16, followed by tremor, generalized dystonia and severe generalized myoclonus. In addition to classical findings, the MRI showed also extensive WML in temporal, parietal and frontal regions, preserving interhemispheric fibers. Necropsy revealed marked alterations of white matter, cortex and basal ganglia. We subsequently review the literature concerning WML and myoclonus in Wilson's disease.


Barbosa ER,Silveira-Moriyama L,Machado AC,Bacheschi LA,Rosemberg S,Scaff M




Has Abstract


2007-04-01 00:00:00














  • Clinical heterogeneity of LRRK2 p.I2012T mutation.

    abstract:INTRODUCTION:Leucine-rich repeat kinase 2 (LRRK2) mutations are the most common genetic cause of Parkinson's disease (PD). However, only few cases carrying LRRK2 mutations have been reported in Taiwanese PD patients. METHODS:We used targeted next generation sequencing (NGS), covering 24 candidate genes involved in neu...

    journal_title:Parkinsonism & related disorders

    pub_type: 杂志文章


    authors: Fan TS,Wu RM,Chen PL,Chen TF,Li HY,Lin YH,Chen CY,Chen ML,Tai CH,Lin HI,Lin CH

    更新日期:2016-12-01 00:00:00

  • Neurological manifestations and ATP7B mutations in Wilson's disease.

    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


    authors: Machado AA,Deguti MM,Genschel J,Cançado EL,Bochow B,Schmidt H,Barbosa ER

    更新日期:2008-01-01 00:00:00

  • Deep brain stimulation in neurologic disorders.

    abstract::Deep brain stimulation (DBS) is an effective surgical therapy for well-selected patients with medically intractable Parkinson's disease (PD) and essential tremor (ET). The purpose of this review is to describe the success of DBS in these two disorders and its promising application in dystonia, Tourette Syndrome (TS) a...

    journal_title:Parkinsonism & related disorders

    pub_type: 杂志文章,评审


    authors: Halpern C,Hurtig H,Jaggi J,Grossman M,Won M,Baltuch G

    更新日期:2007-02-01 00:00:00

  • Evolution of neuropsychological profile in motor subtypes of multiple system atrophy.

    abstract:INTRODUCTION:Cognitive deficits and neuropsychiatric symptoms occur in parkinsonian and cerebellar subtypes of Multiple System Atrophy (MSA-P and MSA-C). These symptoms have been investigated mainly in cross-sectional studies. The present 1-year follow-up study aimed at evaluating the evolution of cognitive and neurops...

    journal_title:Parkinsonism & related disorders

    pub_type: 杂志文章


    authors: Santangelo G,Cuoco S,Picillo M,Erro R,Squillante M,Volpe G,Cozzolino A,Cicarelli G,Barone P,Pellecchia MT

    更新日期:2020-01-01 00:00:00

  • Effects of intracerebral neurotrophic factor application on motor symptoms in Parkinson's disease: A systematic review and meta-analysis.

    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


    authors: Hegarty SV,Lee DJ,O'Keeffe GW,Sullivan AM

    更新日期:2017-05-01 00:00:00

  • Relationships among cognitive impairment, sleep, and fatigue in Parkinson's disease using the MDS-UPDRS.

    abstract:BACKGROUND:Non-motor complications of Parkinson's disease (PD), specifically cognitive impairment, sleep disturbances, and fatigue, are recognized as important contributors to poor patient outcomes and quality of life. How sleep problems and fatigue interrelate and impact cognitive function, however, has not systematic...

    journal_title:Parkinsonism & related disorders

    pub_type: 杂志文章


    authors: Goldman JG,Stebbins GT,Leung V,Tilley BC,Goetz CG

    更新日期:2014-11-01 00:00:00

  • Clinical findings of autosomal-dominant striatal degeneration and PDE8B mutation screening in parkinsonism and related disorders.

    abstract:BACKGROUND:Autosomal-dominant striatal degeneration (ADSD) is a rare neurodegenerative movement disorder caused by mutations in the Phosphodiesterase 8B (PDE8B) gene. OBJECTIVE:To summarize the clinical and imaging features of a Chinese ADSD family and determine whether mutations in PDE8B are associated with Parkinson...

    journal_title:Parkinsonism & related disorders

    pub_type: 杂志文章


    authors: Ni J,Yi X,Liu Z,Sun W,Yuan Y,Yang J,Jiang H,Shen L,Tang B,Liu Y,Wang J

    更新日期:2019-12-01 00:00:00

  • Highly specific radiographic marker predates clinical diagnosis in progressive supranuclear palsy.

    abstract:INTRODUCTION:The diagnosis of progressive supranuclear palsy is often challenging early in the course of the disease, when clinical signs of the condition may be less apparent and patients do not clearly meet diagnostic criteria. In this study, we examine a potential radiographic marker in progressive supranuclear pals...

    journal_title:Parkinsonism & related disorders

    pub_type: 杂志文章


    authors: Owens E,Krecke K,Ahlskog JE,Fealey R,Hassan A,Josephs KA,Klassen B,Matsumoto J,Bower J

    更新日期:2016-07-01 00:00:00

  • Could Mucuna pruriens be the answer to Parkinson's disease management in sub-Saharan Africa and other low-income countries worldwide?

    abstract::Parkinson's disease (PD) is a progressive, disabling, neurodegenerative disease that requires long term care and pharmaceutical treatment. Levodopa remains the gold standard treatment for PD globally, although it is largely unavailable and unaffordable for the majority of patients in many sub-Saharan African and other...

    journal_title:Parkinsonism & related disorders

    pub_type: 杂志文章


    authors: Fothergill-Misbah N,Maroo H,Cham M,Pezzoli G,Walker R,Cilia R

    更新日期:2020-04-01 00:00:00

  • Longitudinal changes in cognition in early Parkinson's disease patients with REM sleep behavior disorder.

    abstract:INTRODUCTION:Cognitive decline is common in Parkinson's disease (PD), and identifying patients at highest risk for it is essential. We aimed to examine the effect of possible REM sleep behavior disorder (pRBD) on rate of cognitive decline in early PD, for both global cognition and in specific cognitive domains. METHOD...

    journal_title:Parkinsonism & related disorders

    pub_type: 杂志文章,多中心研究


    authors: Chahine LM,Xie SX,Simuni T,Tran B,Postuma R,Amara A,Oertel WH,Iranzo A,Scordia C,Fullard M,Linder C,Purri R,Darin A,Rennert L,Videnovic A,Del Riva P,Weintraub D

    更新日期:2016-06-01 00:00:00

  • Abnormal MoCA and normal range MMSE scores in Parkinson disease without dementia: cognitive and neurochemical correlates.

    abstract:BACKGROUND:The Montreal Cognitive Assessment (MoCA) is increasingly being used as a cognitive screening test in Parkinson disease (PD). The MoCA's popularity likely reflects its ability to detect executive dysfunction, a relative deficiency of the Mini-Mental State Examination (MMSE). OBJECTIVE:To compare neurochemica...

    journal_title:Parkinsonism & related disorders

    pub_type: 杂志文章


    authors: Chou KL,Lenhart A,Koeppe RA,Bohnen NI

    更新日期:2014-10-01 00:00:00

  • Salivary alpha-synuclein in the diagnosis of Parkinson's disease and Progressive Supranuclear Palsy.

    abstract:INTRODUCTION:Alpha-synuclein (α-syn) aggregation is the pathological hallmark of Parkinson's Disease (PD). In this study, we measured α-syn total (α-syntotal), oligomeric α-syn (α-synolig) and α-synolig/α-syntotal ratio in the saliva of patients affected by PD and in age and sex-matched healthy subjects. We also compar...

    journal_title:Parkinsonism & related disorders

    pub_type: 杂志文章


    authors: Vivacqua G,Suppa A,Mancinelli R,Belvisi D,Fabbrini A,Costanzo M,Formica A,Onori P,Fabbrini G,Berardelli A

    更新日期:2019-06-01 00:00:00

  • Interoceptive processing deficit: A behavioral marker for subtyping Parkinson's disease.

    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


    authors: Santangelo G,Vitale C,Baiano C,D'Iorio A,Longo K,Barone P,Amboni M,Conson M

    更新日期:2018-08-01 00:00:00

  • The probable REM sleep behavior disorder negatively affects health-related quality of life in Parkinson's disease with bilateral subthalamic nucleus stimulation.

    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


    authors: Park S,Kim R,Shin JH,Kim HJ,Paek SH,Jeon B

    更新日期:2020-12-01 00:00:00

  • Oropharyngeal freezing and its relation to dysphagia - An analogy to freezing of gait.

    abstract:INTRODUCTION:The pathophysiology of dysphagia in Parkinson's disease (PD) is heterogeneous and poorly understood at present. This study investigated the phenotypes, prevalence and pathophysiology of oropharyngeal freezing (OPF) in PD and its relation to dysphagia. METHODS:In a prospective study, 50 PD patients were sy...

    journal_title:Parkinsonism & related disorders

    pub_type: 杂志文章


    authors: Labeit B,Claus I,Muhle P,Lapa S,Suntrup-Krueger S,Dziewas R,Osada N,Warnecke T

    更新日期:2020-06-01 00:00:00

  • Comparison of IPX066 with carbidopa-levodopa plus entacapone in advanced PD patients.

    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


    authors: Stocchi F,Hsu A,Khanna S,Ellenbogen A,Mahler A,Liang G,Dillmann U,Rubens R,Kell S,Gupta S

    更新日期:2014-12-01 00:00:00

  • Long-term outcome of 50 consecutive Parkinson's disease patients treated with subthalamic deep brain stimulation.

    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


    authors: Wider C,Pollo C,Bloch J,Burkhard PR,Vingerhoets FJ

    更新日期:2008-01-01 00:00:00

  • Using virtual reality to explore the role of conflict resolution and environmental salience in freezing of gait in Parkinson's disease.

    abstract:BACKGROUND:The freezing phenomenon is among the most disabling symptoms of Parkinson's disease (PD) manifesting most commonly as Freezing of Gait with a paroxysmal cessation of effective stepping. Recent studies have suggested that freezing is related to both impairments in conflict resolution as well as the processing...

    journal_title:Parkinsonism & related disorders

    pub_type: 杂志文章,随机对照试验


    authors: Matar E,Shine JM,Naismith SL,Lewis SJ

    更新日期:2013-11-01 00:00:00

  • Subthalamic nucleus deep brain stimulation in early stage Parkinson's disease.

    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


    authors: Charles D,Konrad PE,Neimat JS,Molinari AL,Tramontana MG,Finder SG,Gill CE,Bliton MJ,Kao C,Phibbs FT,Hedera P,Salomon RM,Cannard KR,Wang L,Song Y,Davis TL

    更新日期:2014-07-01 00:00:00

  • Motor outcome of dystonic camptocormia treated with pallidal neurostimulation.

    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


    authors: Reese R,Knudsen K,Falk D,Mehdorn HM,Deuschl G,Volkmann J

    更新日期:2014-02-01 00:00:00

  • Effects of fibroblast growth factor and glial-derived neurotrophic factor on akinesia, F-DOPA uptake and dopamine cells in parkinsonian primates.

    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


    authors: Fontan A,Rojo A,Sanchez Pernaute R,Hernández I,López I,Castilla C,Sanchez Albisua J,Perez Higueras A,Al-Rashid I,Rabano A,Gonzalo I,Angeles Mena M,Cools A,Eshuis S,Maguire P,Pruim J,Leenders K,Garcia de Yebenes J

    更新日期:2002-06-01 00:00:00

  • Predictors of onset of psychosis in patients with Parkinson's disease: Who gets it early?

    abstract:INTRODUCTION:Psychosis is one of the common non-motor symptoms of PD, which substantially worsens the quality of life. Hence, it is important to identify factors that are associated with early onset of psychosis in PD. In order to identify those factors, the current study aims to compare various demographic and clinica...

    journal_title:Parkinsonism & related disorders

    pub_type: 杂志文章


    authors: Lenka A,George L,Arumugham SS,Hegde S,Reddy V,Kamble N,Yadav R,Pal PK

    更新日期:2017-11-01 00:00:00

  • High-dose treatment with pergolide in Parkinson's disease patients with motor fluctuations and dyskinesias.

    abstract::Motor complications arising after long-term treatment with levodopa remain one of the main challenges in the treatment of patients with Parkinson's disease (PD). Monotherapy with dopamine agonists may delay the onset of motor complications or reduce their severity when added to levodopa treatment. Here, we retrospecti...

    journal_title:Parkinsonism & related disorders

    pub_type: 杂志文章


    authors: Storch A,Trenkwalder C,Oehlwein C,Winkelmann J,Polzer U,Hundemer HP,Schwarz J

    更新日期:2005-09-01 00:00:00

  • Prevalence and diagnostic challenge of dystonia in Thailand: a service-based study in a tertiary university referral centre.

    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


    authors: Bhidayasiri R,Kaewwilai L,Wannachai N,Brenden N,Truong DD,Devahastin R

    更新日期:2011-11-01 00:00:00

  • Risk and course of motor complications in a population-based incident Parkinson's disease cohort.

    abstract:BACKGROUND:Motor complications may become major challenges in the management of patients with Parkinson's disease. In this study, we sought to determine the incidence, risk factors, evolution, and treatment of motor fluctuations and dyskinesias in a population-representative, incident Parkinson's disease cohort. METHO...

    journal_title:Parkinsonism & related disorders

    pub_type: 杂志文章


    authors: Bjornestad A,Forsaa EB,Pedersen KF,Tysnes OB,Larsen JP,Alves G

    更新日期:2016-01-01 00:00:00

  • Wheeled and standard walkers in Parkinson's disease patients with gait freezing.

    abstract:OBJECTIVES:Compare the efficacy of two walking assistance devices (wheeled walker and standard walker) to unassisted walking for patients with PD and gait freezing. BACKGROUND:Although numerous walking devices are used clinically, their relative effects on freezing and walking speed have never been systematically test...

    journal_title:Parkinsonism & related disorders

    pub_type: 临床试验,杂志文章,随机对照试验


    authors: Cubo E,Moore CG,Leurgans S,Goetz CG

    更新日期:2003-10-01 00:00:00

  • A computerized survey of pain in Parkinson's disease patients: A pilot feasibility study.

    abstract::Approximately two thirds of Parkinson's disease (PD) patients exhibit bothersome pain symptoms that oftentimes go unrecognized. In this study, 14 patients with PD volunteered to complete a computerized version of the McGill Pain Questionnaire using the PAINReportIt interactive software to assess the feasibility of acq...

    journal_title:Parkinsonism & related disorders

    pub_type: 杂志文章


    authors: Page DB,Weaver F,Wilkie DJ,Simuni T

    更新日期:2010-02-01 00:00:00

  • Motor impairment in normal aging, clinically possible Parkinson's disease, and clinically probable Parkinson's disease: longitudinal evaluation of a cohort of prospective brain donors.

    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


    authors: Adler CH,Hentz JG,Joyce JN,Beach T,Caviness JN

    更新日期:2002-12-01 00:00:00

  • Obstructive sleep apnea, CPAP therapy and Parkinson's disease motor function: A longitudinal study.

    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


    authors: Meng L,Benedetti A,Lafontaine AL,Mery V,Robinson AR,Kimoff J,Gros P,Kaminska M

    更新日期:2020-01-01 00:00:00

  • Delivering patient-centered care in Parkinson's disease: Challenges and consensus from an international panel.

    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


    authors: Bhidayasiri R,Panyakaew P,Trenkwalder C,Jeon B,Hattori N,Jagota P,Wu YR,Moro E,Lim SY,Shang H,Rosales R,Lee JY,Thit WM,Tan EK,Lim TT,Tran NT,Binh NT,Phoumindr A,Boonmongkol T,Phokaewvarangkul O,Thongchuam Y,Vora

    更新日期:2020-03-01 00:00:00