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Movement disorders

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19 papers 0 to 25 followers
https://www.readbyqxmd.com/read/29075231/inner-retinal-dysfunction-in-the-autosomal-recessive-spastic-ataxia-of-charlevoix-saguenay
#1
François-Xavier Borruat, Graham E Holder, Fion Bremner
The autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is associated with structural retinal abnormalities either directly visible on funduscopy or revealed by optical coherence tomography (OCT). Most patients with ARSACS have a whitish peripapillary appearance corresponding to a thickening of the peripapillary retinal nerve fiber layer. OCT has also shown an absence of the physiological foveal depression. Abnormal electroretinography (ERG) has previously been reported in only two cases, without further details...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/20437543/perry-syndrome-due-to-the-dctn1-g71r-mutation-a-distinctive-levodopa-responsive-disorder-with-behavioral-syndrome-vertical-gaze-palsy-and-respiratory-failure
#2
Victoria Newsway, Mark Fish, Jonathan D Rohrer, Elisa Majounie, Nigel Williams, Melissa Hack, Jason D Warren, Huw R Morris
Perry syndrome is a rare form of autosomal dominant Parkinsonism with respiratory failure recently defined as being due to mutations in the DCTN1 gene. We describe a new family carrying a G71R mutation in the DCTN1 gene. The proband displayed a series of distinctive features not previously described in Perry syndrome: a disorder of vertical downward saccades accompanied by progressive midbrain atrophy, predominant nonmotor symptoms responsive to levodopa, distinctive craniocervical levodopa induced dyskinesias, and a good response to high-dose levodopa therapy and respiratory support...
April 30, 2010: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/25643588/isolated-and-combined-dystonia-syndromes-an-update-on-new-genes-and-their-phenotypes
#3
REVIEW
B Balint, K P Bhatia
Recent consensus on the definition, phenomenology and classification of dystonia centres around phenomenology and guides our diagnostic approach for the heterogeneous group of dystonias. Current terminology classifies conditions where dystonia is the sole motor feature (apart from tremor) as 'isolated dystonia', while 'combined dystonia' refers to dystonias with other accompanying movement disorders. This review highlights recent advances in the genetics of some isolated and combined dystonic syndromes. Some genes, such as ANO3, GNAL and CIZ1, have been discovered for isolated dystonia, but they are probably not a common cause of classic cervical dystonia...
April 2015: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/26324905/evidence-for-%C3%AE-synuclein-prions-causing-multiple-system-atrophy-in-humans-with-parkinsonism
#4
Stanley B Prusiner, Amanda L Woerman, Daniel A Mordes, Joel C Watts, Ryan Rampersaud, David B Berry, Smita Patel, Abby Oehler, Jennifer K Lowe, Stephanie N Kravitz, Daniel H Geschwind, David V Glidden, Glenda M Halliday, Lefkos T Middleton, Steve M Gentleman, Lea T Grinberg, Kurt Giles
Prions are proteins that adopt alternative conformations that become self-propagating; the PrP(Sc) prion causes the rare human disorder Creutzfeldt-Jakob disease (CJD). We report here that multiple system atrophy (MSA) is caused by a different human prion composed of the α-synuclein protein. MSA is a slowly evolving disorder characterized by progressive loss of autonomic nervous system function and often signs of parkinsonism; the neuropathological hallmark of MSA is glial cytoplasmic inclusions consisting of filaments of α-synuclein...
September 22, 2015: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/26369944/clinical-features-and-autonomic-testing-predict-survival-in-multiple-system-atrophy
#5
Elizabeth A Coon, David M Sletten, Mariana D Suarez, Jay N Mandrekar, J Eric Ahlskog, James H Bower, Joseph Y Matsumoto, Michael H Silber, Eduardo E Benarroch, Robert D Fealey, Paola Sandroni, Phillip A Low, Wolfgang Singer
Multiple system atrophy is characterized by autonomic failure along with motor symptoms of parkinsonism and/or cerebellar ataxia. There are differing reports on the influence of certain clinical features, including motor subtype (multiple system atrophy-parkinsonism versus multiple system atrophy-cerebellar ataxia), age of onset, gender, and early autonomic symptoms, on the survival in patients with multiple system atrophy. We sought to evaluate overall survival and predictors of survival in a large cohort of patients with multiple system atrophy seen at a single referral centre where objective autonomic testing is routinely performed for this indication...
December 2015: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28937508/status-dystonicus-in-childhood
#6
Daniel E Lumsden, Mary D King, Nicholas M Allen
PURPOSE OF REVIEW: Dystonia is a common paediatric neurological condition. At its most severe, dystonia may lead to life-threatening complications, a state termed status dystonicus. This review provides an update on the definition, causes, management and outcome of childhood status dystonicus. RECENT FINDINGS: High-quality studies in childhood status dystonicus are lacking, though an increasing number of case series have been published. Status dystonicus appears to occur more frequently in children compared with adults, with a clear precipitant identified in around two-thirds of cases...
December 2017: Current Opinion in Pediatrics
https://www.readbyqxmd.com/read/28653647/advances-in-progressive-supranuclear-palsy-new-diagnostic-criteria-biomarkers-and-therapeutic-approaches
#7
REVIEW
Adam L Boxer, Jin-Tai Yu, Lawrence I Golbe, Irene Litvan, Anthony E Lang, Günter U Höglinger
Progressive supranuclear palsy (PSP), previously believed to be a common cause of atypical parkinsonism, is now recognised as a range of motor and behavioural syndromes that are associated with a characteristic 4-repeat tau neuropathology. New research criteria that recognise early presentations of PSP and operationalise diagnosis of the full spectrum of clinical phenotypes have been reported. The Movement Disorders Society PSP diagnostic criteria include syndromes with few or mild symptoms that are suggestive of underlying PSP pathology and could provide an opportunity for earlier therapeutic interventions in the future...
July 2017: Lancet Neurology
https://www.readbyqxmd.com/read/14570999/parkinsonism-plus-syndrome-a-review
#8
REVIEW
K Mitra, P K Gangopadhaya, S K Das
Parkinsonism plus syndrome is a group of heterogeneous degenerative neurological disorders, which differ from the classical idiopathic Parkinson's disease in certain associated clinical features, poor response to levodopa, distinctive pathological characteristics and poor prognosis. Associated clinical features include symmetrical onset, infrequent or atypical tremor, prominent rigidity in axial musculature, bradykinesia, early postural instability, supranuclear gaze palsy, early autonomic failure, pyramidal affection, cerebellar involvement, alien limb phenomenon, apraxia and significant early cognitive dysfunction in some cases...
June 2003: Neurology India
https://www.readbyqxmd.com/read/24955381/sleep-disorders-in-atypical-parkinsonism
#9
Sabra M Abbott, Aleksandar Videnovic
Sleep disorders are commonly seen in atypical parkinsonism, with particular disorders occurring more frequently in specific parkinsonian disorders. Multiple systems atrophy (MSA) is a synucleinopathy often associated with nocturnal stridor which is a serious, but treatable condition highly specific to MSA. In addition, this disorder is strongly associated with rapid eye movement (REM) sleep behavior disorder (RBD), which is also seen in dementia with Lewy bodies (DLB). RBD is far less prevalent in progressive supranuclear palsy (PSP), which is a tauopathy...
June 1, 2014: Movement Disorders Clinical Practice
https://www.readbyqxmd.com/read/27536463/hemichorea-hemiballism-associated-with-hyperglycemia-report-of-20-cases
#10
Carlos Cosentino, Luis Torres, Yesenia Nuñez, Rafael Suarez, Miriam Velez, Martha Flores
BACKGROUND: Hemichorea/hemiballism associated with nonketotic hyperglycemia is a well-recognized syndrome, but few case series have been reported in the literature. CASE REPORT: We describe 20 patients with hemichorea/hemiballism associated with hyperglycemia (9 males and 11 females) with mean age of 67.8 years. Ten patients had a previous diagnosis of type 2 diabetes mellitus, and one had type 1 diabetes mellitus. Six of them had documentation of poor diabetic control over at least the last 3 months...
2016: Tremor and Other Hyperkinetic Movements
https://www.readbyqxmd.com/read/28898869/disrupted-brain-network-hubs-in-subtype-specific-parkinson-s-disease
#11
Ling-Yan Ma, Xiao-Dan Chen, Yong He, Hui-Zi Ma, Tao Feng
BACKGROUND/AIMS: The topological organization of brain functional networks is impaired in Parkinson's disease (PD). However, the altered patterns of functional network hubs in different subtypes of PD are not completely understood. METHODS: 3T resting-state functional MRI and voxel-based graph-theory analysis were employed to systematically investigate the intrinsic functional connectivity patterns of whole-brain networks. We enrolled 31 patients with PD (12 tremor dominant [TD] and 19 with postural instability/gait difficulty [PIGD]) and 22 matched healthy controls...
2017: European Neurology
https://www.readbyqxmd.com/read/26509097/the-interaction-between-obstructive-sleep-apnea-and-parkinson-s-disease-possible-mechanisms-and-implications-for-cognitive-function
#12
REVIEW
Marta Kaminska, Anne-Louise Lafontaine, R John Kimoff
Parkinson's disease (PD) is a relentlessly progressive neurodegenerative disorder associated with hallmark motor and nonmotor symptoms (NMS) such as sleep disturbances and cognitive dysfunction. While dopaminergic treatments have improved the motor aspects of PD, progression remains inevitable. Research has recently increasingly focused on strategies to modify disease progression and on nonmotor manifestations of PD, given their impact on patients' quality of life. Obstructive sleep apnea (OSA) is a treatable sleep disorder, common in the general population, associated with excessive daytime sleepiness and neurocognitive deficits...
2015: Parkinson's Disease
https://www.readbyqxmd.com/read/27444503/status-dystonicus-in-children-early-recognition-and-treatment-prevent-serious-complications
#13
Laura Combe, Ishaq Abu-Arafeh
This is a retrospective study of all patients presenting to our paediatric unit with status dystonicus (SD) over a period of five years. Anonymous information was collected and a descriptive analysis is made. There were four episodes of SD in three children between 11 and 15 years of age. All children are known to have severe dyskinetic cerebral palsy and presented with an acute or sub-acute deterioration in their symptoms. Symptoms were triggered by infections in three of the four episodes. Early features included frequent and repetitive generalized muscle spasms, poor swallowing, poor sleep, distress and pain...
November 2016: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/27693334/historical-developments-in-children-s-deep-brain-stimulation
#14
REVIEW
Laura Cif, Philippe Coubes
BACKGROUND: Heterogeneous by the underlying pathobiology and clinical presentation, childhood onset dystonia is most frequently progressive, with related disability and limitations in functions of daily living. Consequently, there is an obvious need for efficient symptomatic therapies. METHODS AND RESULTS: Following lesional surgery to basal ganglia (BG) and thalamus, deep brain stimulation (DBS) is a more conservative and adjustable intervention to and validated for internal segment of the globus pallidus (GPi), highly efficient in treating isolated "primary" dystonia and associated symptoms such as subcortical myoclonus...
January 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28220756/deep-brain-stimulation-for-childhood-dystonia-is-where-as-important-as-in-whom
#15
REVIEW
Daniel E Lumsden, Margaret Kaminska, Keyoumars Ashkan, Richard Selway, Jean-Pierre Lin
Deep brain stimulation (DBS) has become a mainstay of dystonia management in adulthood. Typically targeting electrode placement in the GPi, sustained improvement in dystonic symptoms are anticipated in adults with isolated genetic dystonias. Dystonia in childhood is more commonly a symptomatic condition, with dystonia frequently expressed on the background of a structurally abnormal brain. Outcomes following DBS in this setting are much more variable, the reasons for which have yet to be elucidated. Much of the focus on improving outcomes following DBS in dystonia management has been on the importance of patient selection, with, until recently, little discussion of the choice of target...
January 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/27690368/hereditary-dopamine-transporter-deficiency-syndrome-challenges-in-diagnosis-and-treatment
#16
Yilmaz Yildiz, Emine Pektas, Aysegul Tokatli, Goknur Haliloglu
Hereditary dopamine transporter deficiency syndrome (DTDS) is a neurotransmitter disorder caused by a defect in the neuronal uptake of dopamine. To date, 20 patients are reported in the literature, and we present 2 additional patients with DTDS harboring novel homozygous SLC6A3 gene mutations. Patient A is an 8-month-old male with neonatal-onset hypotonia, who developed orolingual dyskinetic movements and oculogyric crises after 4 months of age, with evolution to status dystonicus episodes. Patient B is a 4-year-old male who also had hypotonia since birth, with additional severe limb contractions and oculogyric crises after the age of 3 months, with a misdiagnosis of epileptic encephalopathy...
February 2017: Neuropediatrics
https://www.readbyqxmd.com/read/28247116/considerations-in-deep-brain-stimulation-dbs-for-pediatric-secondary-dystonia
#17
Deki Tsering, Laura Tochen, Bennett Lavenstein, Srijaya K Reddy, Yael Granader, Robert F Keating, Chima O Oluigbo
PURPOSE: There is a paucity of effective long-term medication treatment for secondary dystonias. In situations where significantly impairing secondary dystonias fail to respond to typical enteral medications and intrathecal (or even intraventricular) baclofen, consideration should be given to the use of deep brain stimulation (DBS). While Level I evidence and long-term follow-up clearly demonstrate the efficacy of DBS for primary dystonia, the evidence for secondary dystonia remains mixed and unclear...
April 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28039522/focal-task-specific-dystonia-a-review-and-update
#18
Christine M Stahl, Steven J Frucht
In this review, we summarize recent advances in understanding the etiology, risk factors and pathophysiology of focal task specific dystonia (FTSD), movement disorders characterized by abnormal motor activation during the performance of specific, repetitive actions. We focus on two common FTSD, musician's dystonia and writer's cramp. FTSD may pose a threat to the patient's livelihood, and improved therapeutic treatments are needed.
July 2017: Journal of Neurology
https://www.readbyqxmd.com/read/27679748/irreversible-hemichorea-hemiballism-in-a-case-of-nonketotic-hyperglycemia-presenting-as-the-initial-manifestation-of-diabetes-mellitus
#19
Ujjawal Roy, Shyamal Kumar Das, Adreesh Mukherjee, Debsadhan Biswas, Koushik Pan, Atanu Biswas, Ajay Panwar
BACKGROUND: Hemichorea-hemiballism (HCHB) is a hyperkinetic movement disorder with features of both chorea and ballism occurring on the same side. CASE REPORT: We present a case of HCHB due to nonketotic hyperglycemia (NKH) that was the initial presentation of diabetes and was irreversible clinically even after 6 months of optimal blood sugar control. DISCUSSION: Although HCHB due to hyperglycemia is a potentially reversible condition in the majority of patients, prolonged uncontrolled hyperglycemia may cause ischemic insult and persistent symptoms...
2016: Tremor and Other Hyperkinetic Movements
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