abstract：:Behr syndrome is an autosomal recessive disease characterized by early-onset ataxia, optic atrophy and other signs such as pyramidal tract dysfunction. Autosomal dominant inheritance has also been described. In this case report we present a family pedigree of patients with an inherited autosomal dominant Behr syndrome...

journal_title：Parkinsonism & related disorders

authors： Felicio AC,Godeiro-Junior C,Alberto LG,Pinto AP,Sallum JM,Teive HG,Barsottini OG

更新日期：2008-01-01 00:00:00

abstract：:This is a short report illustrating the problems of the prescribing of anti-Parkinson's disease (PD) medication in patients with PD who are admitted acutely to hospital for any reason. There were a large number of complications as a result of inappropriate or lack of anti-PD drug administration and poor understanding ...

journal_title：Parkinsonism & related disorders

authors： Magdalinou KN,Martin A,Kessel B

更新日期：2007-12-01 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

authors： Abdo WF,van de Warrenburg BP,Kremer HP,Bloem BR,Verbeek MM

更新日期：2007-12-01 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

authors： Findley LJ

更新日期：2007-09-01 00:00:00

abstract：:Hyperechogenicity of the substantia nigra (SN) detected by transcranial sonography is a typical finding in more than 90% of patients with Parkinson's disease (PD) but may also be visible in about 9% of healthy adults. In this study, we found a correlation between SN hyperechogenicity and subtle motor dysfunction in ot...

journal_title：Parkinsonism & related disorders

authors： Ruprecht-Dörfler P,Klotz P,Becker G,Berg D

更新日期：2007-08-01 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

authors： Lyons KE,Pahwa R

更新日期：2007-07-01 00:00:00

abstract：:Spinocerebellar ataxia (SCA) 17 is a dominant neurodegenerative disorder characterized by ataxia, cognitive decline, dystonia, and parkinsonism. The disease is caused by unstable cytosine-adenine-guanine (CAG) trinucleotide expansion mutation coding for polyglutamine tracts in the TATA box-binding protein (TBP), a gen...

journal_title：Parkinsonism & related disorders

authors： Lin IS,Wu RM,Lee-Chen GJ,Shan DE,Gwinn-Hardy K

更新日期：2007-05-01 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：: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

authors： Farrer MJ,Stone JT,Lin CH,Dächsel JC,Hulihan MM,Haugarvoll K,Ross OA,Wu RM

更新日期：2007-03-01 00:00:00

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

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

更新日期：2007-02-01 00:00:00

abstract：:It has become increasingly apparent that Parkinson's disease (PD) can no longer be considered purely a motor disease, as numerous sensory alterations accompany this disorder either before or early in its clinical progression. Most notable among such disturbances are decrements in smell function. Such anomalies have be...

journal_title：Parkinsonism & related disorders

authors： Doty RL

更新日期：2007-01-01 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

authors： Hamani C,Stone S,Laxton A,Lozano AM

更新日期：2007-01-01 00:00:00

abstract：:Several factors involved in the etiology of Parkinson's disease (PD) have been proposed, including genetic and environmental factors or even a combination of both. Thus, multiple cellular hits are likely to contribute to neurodegeneration in PD. If such a mechanism happens to occur, our therapeutic intervention may pe...

journal_title：Parkinsonism & related disorders

authors： Hirsch EC

更新日期：2007-01-01 00:00:00

abstract：:The ataxias are a group of progressive neurodegenerative disorders with ataxia as the leading symptom. Current classifications distinguish between hereditary and non-hereditary ataxias. The hereditary ataxias are further divided into the autosomal recessive ataxias, the most frequent of which is Friedreich's ataxia, a...

journal_title：Parkinsonism & related disorders

authors： Klockgether T

更新日期：2007-01-01 00:00:00

abstract：:Synchronization of neuronal activity within and across distributed brain regions is a fundamental property of cortical and subcortical networks and serves a variety of functions including motor and cognitive processes. Data will be reviewed here from cross-sectional EEG and MEG studies to suggest that Parkinson's dise...

journal_title：Parkinsonism & related disorders

authors： Berendse HW,Stam CJ

更新日期：2007-01-01 00:00:00

abstract：:Several changes to society in the last four decades have had implications for people and their families living with Parkinson's disease (PD): (1) The change in the role of voluntary organisations highlighting the importance of listening to the needs of the patients and their families. (2) Demographic changes resulting...

journal_title：Parkinsonism & related disorders

authors： Baker MG

更新日期：2007-01-01 00:00:00

abstract：:Parkinson's disease (PD) patients have a ninefold increased risk of recurring falls compared to healthy controls. The risk of falling due to cardiovascular dysautonomia (CVD) is not quantifiable. But, CVD is an integral part of the disease and at least 20% of PD patients suffer from orthostatic hypotension, an express...

journal_title：Parkinsonism & related disorders

authors： Martignoni E,Tassorelli C,Nappi G

更新日期：2006-05-01 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

authors： Troiano AR,Micheli FE,Alarcón F,Teive HA

更新日期：2006-04-01 00:00:00

abstract：:The present study demonstrated that individuals with Parkinson's disease display impairments in making profitable decisions, as evidenced by poorer performance on the Iowa Gambling Task relative to matched controls. The ability to make beneficial judgments solely correlates with ability to appropriately attribute inte...

journal_title：Parkinsonism & related disorders

authors： Mimura M,Oeda R,Kawamura M

更新日期：2006-04-01 00:00:00

abstract：:We describe the outcome of deep brain stimulation of the internal pallidum in a 57-year old patient with multiple system atrophy. Although the prominent dystonic features of this patient were markedly attenuated post-operatively, the outcome was to be considered unfavourable. There was a severe increase in akinesia re...

journal_title：Parkinsonism & related disorders

authors： Santens P,Vonck K,De Letter M,Van Driessche K,Sieben A,De Reuck J,Van Roost D,Boon P

更新日期：2006-04-01 00:00:00

abstract：:The neuroanatomic substrate for restless legs syndrome (RLS) is not known. We implanted deep brain stimulators into the ventralis intermedius nucleus (VIM) of the thalamus in nine subjects for essential tremor (ET) whom all concurrently had RLS. Although the VIM DBS improved tremor, none of the subjects felt there was...

journal_title：Parkinsonism & related disorders

authors： Ondo W

更新日期：2006-03-01 00:00:00

abstract：:Although primary focal hand dystonia has been well characterized, primary focal foot dystonia in adults has rarely been reported. Our objective was to describe the clinical phenotype and treatment outcomes in patients with primary, adult-onset focal foot dystonia. To this end we conducted a retrospective study of four...

journal_title：Parkinsonism & related disorders

authors： Singer C,Papapetropoulos S

更新日期：2006-01-01 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

authors： Wastensson G,Hagberg S,Andersson E,Johnels B,Barregård L

更新日期：2006-01-01 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

authors： Sinha R,Racette B,Perlmutter JS,Parsian A

更新日期：2005-09-01 00:00:00

abstract：BACKGROUND/OBJECTIVE:Essential tremor (ET) can diminish functioning and quality of life (QOL) but generic QOL measures may be relatively insensitive to ET and its therapies. We sought to develop an ET-specific measure that might be more sensitive, acceptable to patients, relatively brief, and easily used. DESIGN/METHO...

journal_title：Parkinsonism & related disorders

authors： Tröster AI,Pahwa R,Fields JA,Tanner CM,Lyons KE

更新日期：2005-09-01 00:00:00

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

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

abstract：:Serious adverse effects with antichoreic drugs can occur in patients with acute Sydenham's chorea (SC). The response to conventional treatment in severe SC may also be poor. Thus alternative therapeutic strategies have been developed. We report on four patients with severe acute SC (two with chorea paralytica and two ...

journal_title：Parkinsonism & related disorders

authors： Teixeira AL Jr,Maia DP,Cardoso F

更新日期：2005-08-01 00:00:00

abstract：:The clinical phenotype of frontotemporal dementia with parkinsonism linked to chromosome 17 (FTDP-17) varies. This variability is seen not only between kindreds with different mutations but also in families sharing the same mutation. Inheritance of tau haplotype (H1) and genotype (H1/H1) has been established as a risk...

journal_title：Parkinsonism & related disorders

authors： Baba Y,Tsuboi Y,Baker MC,Uitti RJ,Hutton ML,Dickson DW,Farrer M,Putzke JD,Woodruff BK,Ghetti B,Murrell JR,Boeve BF,Petersen RC,Verpillat P,Brice A,Delisle MB,Rascol O,Arima K,Dysken MW,Yasuda M,Kobayashi T,Sunoh

更新日期：2005-06-01 00:00:00

abstract：:Huntington's disease (HD) is an autosomal dominant neurodegenerative disorder. An association with sleep breathing disorder has not previously been established in the literature. We report the case of a 45-year-old woman with HD, presenting with snoring and observed apnea. Polysomnography showed obstructive sleep apne...

journal_title：Parkinsonism & related disorders

authors： Banno K,Hobson DE,Kryger MH

更新日期：2005-06-01 00:00:00

abstract：:In Parkinson's disease (PD), post-mortem examination reveals a loss of dopaminergic (DA) neurons in the substantia nigra (SN) associated with a massive astrogliosis and the presence of activated microglial cells. Similarly, microglial activation has also been reported to be associated with the loss of DA neurons in an...

journal_title：Parkinsonism & related disorders

authors： Hirsch EC,Hunot S,Hartmann A

更新日期：2005-06-01 00:00:00

abstract：:In this study we aimed to investigate the effects of bilateral STN HFS in patients with advanced Parkinson disease (PD) at long-term, with a minimum follow-up of 4 years. Twenty patients (15 men, five women) were included, with a mean age of 60.9+/-8.1 years. Surgery was performed under local anesthesia. The target wa...

journal_title：Parkinsonism & related disorders

authors： Visser-Vandewalle V,van der Linden C,Temel Y,Celik H,Ackermans L,Spincemaille G,Caemaert J

更新日期：2005-05-01 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

authors： Johnson AM,Pollard CC,Vernon PA,Tomes JL,Jog MS

更新日期：2005-03-01 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

authors： Cheshire WP Jr,Wszolek ZK

更新日期：2005-01-01 00:00:00

abstract：:The purpose of the study was to assess the validity and reliability of the Parkinson's disease questionnaire (PDQ-39, UK English version) as well as its briefer version (the PDQ-8) among Asian patients with Parkinson's disease (PD) in Singapore. Eighty-eight patients recruited from movement disorder clinics or patient...

journal_title：Parkinsonism & related disorders

authors： Tan LC,Luo N,Nazri M,Li SC,Thumboo J

更新日期：2004-12-01 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

authors： Kang SY,Lee MH,Lee SK,Sohn YH

更新日期：2004-10-01 00:00:00

abstract：:We evaluated the diagnostic accuracy of SPECT imaging using [(99m)Tc]TRODAT-1 (TRODAT), a relatively inexpensive technetium-labeled dopamine transporter ligand, in distinguishing 29 patients with early PD from 38 healthy volunteers. Mean TRODAT uptake values were significantly decreased in the caudate (p=0.0097) and a...

journal_title：Parkinsonism & related disorders

authors： Chou KL,Hurtig HI,Stern MB,Colcher A,Ravina B,Newberg A,Mozley PD,Siderowf A

更新日期：2004-08-01 00:00:00

abstract：:Knowledge of molecular events contributing to motor dysfunction in Parkinson's disease has advanced rapidly during the past decade. Studies in animal models as well as in patients afflicted by this disorder suggest that the nonphysiologic stimulation of striatal dopamine receptors, first as a result of dopaminergic de...

journal_title：Parkinsonism & related disorders

authors： Chase TN

更新日期：2004-07-01 00:00:00

abstract：:We describe a patient with Parkinson's Disease who underwent bilateral subthalamic nucleus deep brain stimulation and later presented with episodes of aggressive behavior disorder with disturbed impulse control and an inability to control anger likely related to the deep brain stimulation "switch-on stimulation". We h...

journal_title：Parkinsonism & related disorders

authors： Sensi M,Eleopra R,Cavallo MA,Sette E,Milani P,Quatrale R,Capone JG,Tugnoli V,Tola MR,Granieri E,Data PG

更新日期：2004-06-01 00:00:00

abstract：:The immunohistochemical demonstration of reactive microglia and activated complement components suggests that chronic inflammation occurs in affected brain regions in Parkinson's disease (PD). Evidence from humans and monkeys exposed to MPTP indicates this inflammation may persist many years after the initial stimulus...

journal_title：Parkinsonism & related disorders

authors： McGeer PL,McGeer EG

更新日期：2004-05-01 00:00:00

abstract：:The feasibility and efficacy of deep brain stimulation (DBS) has offered new possibilities for treatment of movement disorders. Mechanical failure of the DBS system is a potential complication. Here we report five patients who presented with mechanical failure of the DBS system. Radiographs of the skull and cervical s...

journal_title：Parkinsonism & related disorders

authors： Alex Mohit A,Samii A,Slimp JC,Grady MS,Goodkin R

更新日期：2004-03-01 00:00:00