Read by QxMD icon Read


Ralf Reilmann
No abstract text is available yet for this article.
October 17, 2016: JAMA Neurology
Isabelle Beaulieu-Boire, Camila C Aquino, Alfonso Fasano, Yu-Yan Poon, Melanie Fallis, Antony E Lang, Mojgan Hodaie, Suneil K Kalia, Andres Lozano, Elena Moro
BACKGROUND: Rare causes of inherited movement disorders often present with a debilitating phenotype of dystonia, sometimes combined with parkinsonism and other neurological signs. Since these disorders are often resistant to medications, DBS may be considered as a possible treatment. METHODS: Patients with identified genetic diseases (ataxia-telangiectasia, chorea-achantocytosis, dopa-responsive dystonia, congenital nemaline myopathy, methylmalonic aciduria, neuronal ceroid lipofuscinosis, spinocerebellar ataxia types 2 and 3, Wilson's disease, Woodhouse-Sakati syndrome, methylmalonic aciduria, and X trisomy) and disabling dystonia underwent bilateral GPi DBS (bilateral thalamic Vim nucleus in 1 case)...
October 4, 2016: Brain Stimulation
Francesca Lupo, Elena Tibaldi, Alessandro Matte, Alok K Sharma, Anna Maria Brunati, Seth L Alper, Carlo Zancanaro, Donatella Benati, Angela Siciliano, Mariarita Bertoldi, Francesca Zonti, Alexander Storch, Ruth H Walker, Adrian Danek, Benedikt Bader, Andreas Hermann, Lucia De Franceschi
Chorea-acanthocytosis is one of the hereditary neurodegenerative disorders known as the neuroacanthocytoses. Chorea-acanthocytosis is characterized by circulating acanthocytes deficient in chorein, a protein of unknown function. We report here for the first time that chorea-acanthocytosis red-cells are characterized by impaired autophagy, with cytoplasmic accumulation of active Lyn and of autophagy-related proteins Ulk1, Atg7. In chorea-acanthocytosis erythrocytes, active Lyn is sequestered by HSP90-70 to form high-molecular-weight complexes that stabilize and protect Lyn from its proteasomal degradation, contributing to toxic Lyn accumulation...
October 14, 2016: Blood
Kimberly A Quaid, Shirley W Eberly, Elise Kayson-Rubin, David Oakes, Ira Shoulson
Huntington disease (HD) is a late onset ultimately fatal neurodegenerative disorder caused by a CAG triplet repeat expansion in the Huntingtin gene which was discovered in 1993. The PHAROS study is a unique observational study of 1001 individuals at risk for HD who had not been previously tested for HD and who had no plans to do so. In this cohort, 104 (10%) individuals changed their minds and chose to be tested during the course of the study but outside of the study protocol. Baseline behavioral scores, especially apathy, were more strongly associated with later genetic testing than motor and chorea scores, particularly among subjects with expanded CAG repeat length...
October 14, 2016: Clinical Genetics
T Ravindran, Paneerselvam, Radha, T Allwyn Yabesh
Osmotic demyelination syndrome is an acute shift in serum osmolality causing demyelination, which may be due to rapid correction of hyponatremia, hyperglycaemia, hypokalemia and ketoacidosis. We present a case of 55yr old female and a known diabetic presented with the choreic movements involving left upper and lower limb for 2 days without any weakness.Her blood sugar was 428mg/dl at the time of admission with wide fluctuations.Her CT Brain showed hyperdensity in the right basal ganglia and the MRI brain showed hyperintense lesion in T2 weighted images showing features suggestive of osmotic demyelination...
April 2016: Journal of the Association of Physicians of India
A Nagarajan, A Gunasekaran, A Vinoth, A Magesh, Sunitha S
No abstract text is available yet for this article.
January 2016: Journal of the Association of Physicians of India
Navneet Kaur, Puneet Kumar, Sumit Jamwal, Rahul Deshmukh, Vinod Gauttam
BACKGROUND: Tetrabenazine (TBZ) is the only US Food and Drug Administration-approved drug for the treatment of chorea related to Huntington's disease and other hyperkinetic disorders. TBZ was first synthesized in 1950, and was then used for the treatment of psychosis. But later its potential in treating hyperkinetic disorders was proved by its ability to block vesicular monoamine transporters 2 and deplete monoamine stores. There is still lack of awareness about the therapeutic potential of this drug...
September 2016: Annals of Neurosciences
Harsh V Gupta, Charles Gervais, Mark A Ross, Shyamal H Mehta
No abstract text is available yet for this article.
2016: Tremor and Other Hyperkinetic Movements
Tiago Attoni, Rogério Beato, Serge Pinto, Francisco Cardoso
Chorea is an abnormal movement characterized by a continuous flow of random muscle contractions. This phenomenon has several causes, such as infectious and degenerative processes. Chorea results from basal ganglia dysfunction. As the control of the eye movements is related to the basal ganglia, it is expected, therefore, that is altered in diseases related to chorea. Sydenham's chorea, Huntington's disease and neuroacanthocytosis are described in this review as basal ganglia illnesses that can present with abnormal eye movements...
September 2016: Arquivos de Neuro-psiquiatria
Michal Novotný, Jan Rusz, Roman Čmejla, Hana Růžičková, Jiří Klempíř, Evžen Růžička
BACKGROUND: Although increased nasality can originate from basal ganglia dysfunction, data regarding hypernasality in Parkinson's disease (PD) and Huntington's disease (HD) are very sparse. The aim of the current study was to analyze acoustic and perceptual correlates of velopharyngeal seal closure in 37 PD and 37 HD participants in comparison to 37 healthy control speakers. METHODS: Acoustical analysis was based on sustained phonation of the vowel /i/ and perceptual analysis was based on monologue...
2016: PeerJ
Ana Pérez-Vigil, Lorena Fernández de la Cruz, Gustaf Brander, Kayoko Isomura, Caroline Gromark, David Mataix-Cols
Immunological factors are increasingly recognized as being important in a range of neuropsychiatric disorders. We aimed to summarize the disperse and often conflicting literature on the potential association between autoimmune diseases (ADs) and obsessive-compulsive disorder (OCD) and tic disorders. We searched PubMed, EMBASE, and PsycINFO for original studies evaluating the relationship between ADs and OCD/tic disorders until July, 13th 2016. Seventy-four studies met inclusion criteria. Overall, the studies were of limited methodological quality...
September 27, 2016: Neuroscience and Biobehavioral Reviews
Elena Martín-Hernández, María Elena Rodríguez-García, Ana Camacho, Antoni Matilla-Dueñas, María Teresa García-Silva, Pilar Quijada-Fraile, Marc Corral-Juan, Pilar Tejada-Palacios, Rogelio Simón de Las Heras, Joaquín Arenas, Miguel A Martín, Francisco Martínez-Azorín
We report the clinical and biochemical findings from two unrelated patients who presented with a novel syndrome: encephalopathy, intellectual disability, severe hypotonia, chorea and optic atrophy. Whole exome sequencing (WES) uncovered a homozygous mutation in the ATP8A2 gene (NM_016529:c.1287G > T, p.K429N) in one patient and compound heterozygous mutations (c.1630G > C, p.A544P and c.1873C > T, p.R625W) in the other. Only one haploinsufficiency case and a family with a homozygous mutation in ATP8A2 gene (c...
October 2016: Neurogenetics
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
Gemma Navarro, Paula Morales, Carmen Rodríguez-Cueto, Javier Fernández-Ruiz, Nadine Jagerovic, Rafael Franco
Endocannabinoids activate two types of specific G-protein-coupled receptors (GPCRs), namely cannabinoid CB1 and CB2. Contrary to the psychotropic actions of agonists of CB1 receptors, and serious side effects of the selective antagonists of this receptor, drugs acting on CB2 receptors appear as promising drugs to combat CNS diseases (Parkinson's disease, Huntington's chorea, cerebellar ataxia, amyotrohic lateral sclerosis). Differential localization of CB2 receptors in neural cell types and upregulation in neuroinflammation are keys to understand the therapeutic potential in inter alia diseases that imply progressive neurodegeneration...
2016: Frontiers in Neuroscience
Vikram A Londhey
SLE (systemic lupus erythematosus) is a multisystem autoimmune disorder of unknown aetiology which can present with myriad clinical presentation. The neurological manifestations of SLE consist of central nervous system (CNS) and peripheral nervous system manifestations (PNS). The CNS manifestations are aseptic meningitis, cerebrovascular accidents (stroke), demyelinating disorders, headache, involuntary movements like chorea, myelopathy, acute confusional states, cognitive dysfunction, mood disorder, seizures, psychosis and cranial nerve palsies...
December 2015: Journal of the Association of Physicians of India
Md Asiful Islam, Fahmida Alam, Mohammad Amjad Kamal, Kah Keng Wong, Teguh Haryo Sasongko, Siew Hua Gan
Neurological manifestations or disorders associated with central nervous system (CNS) are one of the most common as well as important clinical characteristics of antiphospholipid syndrome (APS). Although in the last updated (2006) classification criteria of APS its neurological manifestations encompassed only transient ischemic attack (TIA) and stroke, diverse 'non-criteria' neurological disorders or manifestations (headache, migraine, bipolar disorder, transverse myelitis, dementia, chorea, epileptic seizures, multiple sclerosis, psychosis, cognitive impairment, Tourette's syndrome, parkinsonism, dystonia, transient global amnesia, obsessive compulsive disorder and leukoencephalopathy) have been observed in APS patients...
September 20, 2016: CNS & Neurological Disorders Drug Targets
Caterina Garone, Juliana Gurgel-Giannetti, Simone Sanna-Cherchi, Sindu Krishna, Ali Naini, Catarina M Quinzii, Michio Hirano
SUCLA2 defects have been associated with mitochondrial DNA (mtDNA) depletion and the triad of hypotonia, dystonia/Leigh-like syndrome, and deafness. A 9-year-old Brazilian boy of consanguineous parents presented with psychomotor delay, deafness, myopathy, ataxia, and chorea. Despite the prominent movement disorder, brain magnetic resonance imaging (MRI) was normal while (1)H-magnetic resonance spectroscopy (MRS) showed lactate peaks in the cerebral cortex and lateral ventricles. Decreased biochemical activities of mitochondrial respiratory chain enzymes containing mtDNA-encoded subunits and mtDNA depletion were observed in muscle and fibroblasts...
September 20, 2016: Journal of Child Neurology
Howard D Weiss
Hyperkinetic movements, such as tremor, myoclonus, chorea, and dystonia, occur in many neurologic and medical conditions. Accurate clinical evaluation is the important first step for the proper diagnosis and treatment of patients with abnormal movements.
August 2016: Seminars in Neurology
Géraldine Liot, Julien Valette, Jérémy Pépin, Julien Flament, Emmanuel Brouillet
Huntington's disease (HD) is an inherited progressive neurodegenerative disorder associated with involuntary abnormal movements (chorea), cognitive deficits and psychiatric disturbances. The most striking neuropathological change in HD is the early atrophy of the striatum. While the disease progresses, other brain structures also degenerate, including the cerebral cortex. Changes are also seen outside the brain, in particular weight loss/cachexia despite high dietary intake. The disease is caused by an abnormal expansion of a CAG repeat in the gene encoding the huntingtin protein (Htt)...
September 14, 2016: Biochemical and Biophysical Research Communications
Lars Wojtecki, Stefan Jun Groiss, Christian Johannes Hartmann, Saskia Elben, Sonja Omlor, Alfons Schnitzler, Jan Vesper
Huntington's disease (HD) is one of the most disabling degenerative movement disorders, as it not only affects the motor system but also leads to cognitive disabilities and psychiatric symptoms. Deep brain stimulation (DBS) of the pallidum is a promising symptomatic treatment targeting the core motor symptom: chorea. This article gives an overview of preliminary evidence on pathophysiology, safety and efficacy of DBS in HD.
August 30, 2016: Brain Sciences
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"