Glucocerebrosidase mutations in diffuse Lewy body disease.

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

authors： Liu SY,Wu JJ,Zhao J,Huang SF,Wang YX,Ge JJ,Wu P,Zuo CT,Ding ZT,Wang J

更新日期：2015-12-01 00:00:00

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

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

abstract：:We report here on a Japanese family in which five members in three generations developed non-progressive adult onset cortical tremor and epilepsy. Other than tremulous movements resembling essential tremor, the neurologic findings were unremarkable. Electrophysiologic studies revealed giant somatosensory evoked potent...

journal_title：Parkinsonism & related disorders

authors： Okuma Y,Shimo Y,Hatori K,Hattori T,Tanaka S,Mizuno Y

更新日期：1997-04-01 00:00:00

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-inherite...

journal_title：Parkinsonism & related disorders

authors： Carecchio M,Panteghini C,Reale C,Barzaghi C,Monti V,Romito L,Sasanelli F,Garavaglia B

更新日期：2016-02-01 00:00:00

abstract：:Involuntary movements are not a known feature of vitamin B12 (vB12) deficiency in adults, though they are a characteristic feature of vB12 deficiency in infants. This case report presents an adult patient with vB12 deficiency in whom, myoclonus-like muscular contractions appeared soon after the initiation of vB12 and ...

journal_title：Parkinsonism & related disorders

authors： Celik M,Barkut IK,Oncel C,Forta H

更新日期：2003-10-01 00:00:00

abstract：OBJECTIVE:To demonstrate that degeneration of substantia nigra neurons may occur at later stages of disease in some patients with corticobasal syndrome (CBS) who evidenced preserved nigrostriatal pathway at a baseline FP-CIT SPECT study. BACKGROUND:Current pathological criteria for the definite diagnosis of corticobas...

journal_title：Parkinsonism & related disorders

authors： Ceravolo R,Rossi C,Cilia R,Tognoni G,Antonini A,Volterrani D,Bonuccelli U

更新日期：2013-05-01 00:00:00

abstract：BACKGROUND:Drug-induced Parkinsonism is common, causes significant morbidity, and can be clinically indistinguishable from idiopathic Parkinson's disease. Additionally, drug-induced Parkinsonism may, in some cases, represent "unmasking" of incipient Parkinson's disease. Clinical features or tests that distinguish degen...

journal_title：Parkinsonism & related disorders

authors： Morley JF,Pawlowski SM,Kesari A,Maina I,Pantelyat A,Duda JE

更新日期：2014-07-01 00:00:00

abstract：BACKGROUND:Sleep disorders occur commonly in Parkinson's disease and are often under-recognized and under treated in clinical practice. OBJECTIVES:To determine the quality of sleep in patients with Young onset Parkinson's disease (YOPD) and to note whether there is any difference in quality of sleep from those patient...

journal_title：Parkinsonism & related disorders

authors： Mahale R,Yadav R,Pal PK

更新日期：2015-05-01 00:00:00

abstract：PURPOSE:A systematic meta-analysis of published studies on the diagnostic accuracy of presynaptic dopaminergic imaging with ¹²³I-FP-CIT (DaTSCAN) in dementia with Lewy bodies (DLB). METHODS:We included (a) studies in which DaTSCAN was performed in cases of diagnostic uncertainty to differentiate between DLB and non-DL...

journal_title：Parkinsonism & related disorders

authors： Papathanasiou ND,Boutsiadis A,Dickson J,Bomanji JB

更新日期：2012-03-01 00:00:00

abstract：BACKGROUND:Transcranial B-mode sonography (TCS) has become an important tool in the differential diagnosis of parkinsonism given that current technology enables an adequate assessment of brain structures. In this study we aimed at evaluating the usefulness of midbrain area measured by TCS in the differential diagnosis ...

journal_title：Parkinsonism & related disorders

authors： Sastre-Bataller I,Vázquez JF,Martínez-Torres I,Sahuquillo P,Rubio-Agustí I,Burguera JA,Ferrer JM,Valero C,Tembl JI

更新日期：2013-08-01 00:00:00

abstract：:Hemifacial spasm (HFS) resulting from Chiari type I malformation (CIM) is rare. We retrospectively evaluated five patients with CIM and HFS among a series of 103 subjects. The frequency of HFS associated to CIM was of 4.85%. The clinical profile did not differ from the classical primary cases except for young-onset de...

journal_title：Parkinsonism & related disorders

authors： Felício AC,de Godeiro C Jr,Borges V,de Azevedo Silva SM,Ferraz HB

更新日期：2008-01-01 00:00:00

abstract：INTRODUCTION:Cognitive dysfunction is common in progressive supranuclear palsy (PSP) but its effect on medical decision-making has not been well studied. To address this gap in the research literature, we compared the medical decision-making capacity of patients with PSP to groups of patients with other neurodegenerati...

journal_title：Parkinsonism & related disorders

authors： Gerstenecker A,Grimsley L,Otruba B,Cowden L,Marson DC,Gerstenecker KT,Martin RC,Roberson ED

更新日期：2019-04-01 00:00:00

abstract：INTRODUCTION:Freezing of gait (FoG) is one of the most disabling gait disorders in Parkinson's disease (PD), reflecting motor and cognitive impairments, mainly related to dopamine deficiency. Recent studies investigating kinematic and kinetic factors affecting gait in these patients showed a postural instability charac...

journal_title：Parkinsonism & related disorders

authors： Mezzarobba S,Grassi M,Pellegrini L,Catalan M,Krüger B,Stragapede L,Manganotti P,Bernardis P

更新日期：2020-11-01 00:00:00

abstract：:Restless legs syndrome (RLS) is a common condition characterized by an urge to move the legs, accompanied by uncomfortable or unpleasant sensations. Symptoms predominantly occur at rest in the evening or at night, and they are alleviated by moving the affected extremity or by walking. Recent European epidemiological s...

journal_title：Parkinsonism & related disorders

authors： Ferini-Strambi L,Manconi M

更新日期：2009-12-01 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

authors： Kaelin-Lang A,You H,Burgunder JM,Lönnfors-Weitze T,Loher TJ,Taub E,Isaias IU,Krauss JK,Michael Schüpbach WM

更新日期：2020-12-01 00:00:00

abstract：INTRODUCTION:The Montreal Cognitive Assessment (MoCA) is a frequently utilized cognitive screening tool that has attractive clinical attributes when utilized in individuals with Parkinson's disease. However, the construct validity of this instrument has not been well-characterized in Parkinson's samples. The purpose of...

journal_title：Parkinsonism & related disorders

authors： Benge JF,Balsis S,Madeka T,Uhlman C,Lantrip C,Soileau MJ

更新日期：2017-08-01 00:00:00

abstract：:Current concepts regarding the pathogenesis of Parkinson's disease support a model whereby environmental factors conspire with a permissive genetic background to initiate the disease. The identity of the responsible environmental trigger has remained elusive. There is incontrovertible evidence that aggregation of the ...

journal_title：Parkinsonism & related disorders

authors： Woulfe JM,Gray MT,Gray DA,Munoz DG,Middeldorp JM

更新日期：2014-07-01 00:00:00

abstract：BACKGROUND:Although orthostatic hypotension (OH) is recognized as one of the main non-motor symptoms of Parkinson's disease (PD), there is inconsistent evidence about the prevalence of OH in PD. To estimate the prevalence of OH in PD more precisely we conducted a systematic review of the literature. METHODS:From PubMe...

journal_title：Parkinsonism & related disorders

authors： Velseboer DC,de Haan RJ,Wieling W,Goldstein DS,de Bie RM

更新日期：2011-12-01 00:00:00

abstract：:Head drop is characterized by marked anterior flexion of the cervical spine, caused by weakness of the neck extensors or by increased tone of the flexor muscles. We report a woman with Parkinson's disease and head drop not due to cervical dystonia (a common cause of antecollis in parkinsonisms). Clinical, radiological...

journal_title：Parkinsonism & related disorders

authors： Fasano A,Evoli A,Piano C,Tonali PA,Bentivoglio AR

更新日期：2008-01-01 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

authors： Bonifati V

更新日期：2012-01-01 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

authors： Sauerbier A,Jenner P,Todorova A,Chaudhuri KR

更新日期：2016-01-01 00:00:00

abstract：:The Behavioural Assessment of the Dysexecutive Syndrome (BADS) is a neuropsychological battery developed with the intent of measuring a wide range of executive impairments. Although the psychometric characteristics of BADS have previously been investigated in distinct neurological disorders, data on its validity in Pa...

journal_title：Parkinsonism & related disorders

authors： Perfetti B,Varanese S,Mercuri P,Mancino E,Saggino A,Onofrj M

更新日期：2010-01-01 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

authors： Karlsson F,Blomstedt P,Olofsson K,Linder J,Nordh E,van Doorn J

更新日期：2012-08-01 00:00:00

abstract：BACKGROUND:Subthalamic nucleus (STN) deep brain stimulation (DBS) has recently been shown to be an effective treatment for Meige syndrome but efficacy of symptomatic improvement and its relationship to factors in DBS remains to be explored. OBJECTIVES:This study explored the relationship of electrode contact location ...

journal_title：Parkinsonism & related disorders

authors： Yao C,Horn A,Li N,Lu Y,Fu Z,Wang N,Aziz TZ,Wang L,Zhang S

更新日期：2019-01-01 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

authors： Iketani R,Furushima D,Imai S,Yamada H

更新日期：2020-09-01 00:00:00

abstract：OBJECTIVE:The object of the present study was to evaluate whether patients with neurolathyrism (NL) have cognitive abnormalities, and whether the cognitive decline, if found, correlates with the motor deficit. BACKGROUND:NL is a neurological syndrome that develops following ingestion of the grass pea (Lathyrus Sativus...

journal_title：Parkinsonism & related disorders

authors： Paleacu D,Cohn DF,Rabey JM

更新日期：1999-04-01 00:00:00

abstract：: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 fi...

journal_title：Parkinsonism & related disorders

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

更新日期：2007-04-01 00:00:00

abstract：INTRODUCTION:Post-operative programming of deep brain stimulation for movement disorders can be both time consuming and difficult, which can delay the optimal symptom control for the patient. Probabilistic maps of stimulation response could improve programming efficiency and optimization. METHODS:The clinically select...

journal_title：Parkinsonism & related disorders

authors： Phibbs FT,Pallavaram S,Tolleson C,D'Haese PF,Dawant BM

更新日期：2014-12-01 00:00:00

abstract：BACKGROUND:Parkinson's disease patients may be at increased risk of delirium and developing adverse outcomes, such as cognitive decline and increased mortality. Delirium is an acute state of confusion that has overlapping symptoms with Parkinson's dementia, making it difficult to identify. This study aimed to determine...

journal_title：Parkinsonism & related disorders

authors： Lawson RA,McDonald C,Burn DJ

更新日期：2019-07-01 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

authors： Bech S,Hjermind LE,Salvesen L,Nielsen JE,Heegaard NH,Jørgensen HL,Rosengren L,Blennow K,Zetterberg H,Winge K

更新日期：2012-01-01 00:00:00