Read by QxMD icon Read

movement and neurodegeneration

John D Murdoch, Christine M Rostosky, Sindhuja Gowrisankaran, Amandeep S Arora, Sandra-Fausia Soukup, Ramon Vidal, Vincenzo Capece, Siona Freytag, Andre Fischer, Patrik Verstreken, Stefan Bonn, Nuno Raimundo, Ira Milosevic
Endophilin-A, a well-characterized endocytic adaptor essential for synaptic vesicle recycling, has recently been linked to neurodegeneration. We report here that endophilin-A deficiency results in impaired movement, age-dependent ataxia, and neurodegeneration in mice. Transcriptional analysis of endophilin-A mutant mice, complemented by proteomics, highlighted ataxia- and protein-homeostasis-related genes and revealed upregulation of the E3-ubiquitin ligase FBXO32/atrogin-1 and its transcription factor FOXO3A...
October 5, 2016: Cell Reports
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
M Strupp, K Feil, M Dieterich, T Brandt
The leading symptoms of bilateral vestibulopathy (BVP) are postural imbalance and unsteadiness of gait that worsens in darkness and on uneven ground. There are typically no symptoms while sitting or lying under static conditions. A minority of patients also have movement-induced oscillopsia, in particular while walking. The diagnosis of BVP is based on a bilaterally reduced or absent function of the vestibulo-ocular reflex (VOR). This deficit is diagnosed for the high-frequency range of the angular VOR by a bilaterally pathologic bedside head impulse test (HIT) and for the low-frequency range by a bilaterally reduced or absent caloric response...
2016: Handbook of Clinical Neurology
Chung-Han Hsieh, Atossa Shaltouki, Ashley E Gonzalez, Alexandre Bettencourt da Cruz, Lena F Burbulla, Erica St Lawrence, Birgitt Schüle, Dimitri Krainc, Theo D Palmer, Xinnan Wang
Mitochondrial movements are tightly controlled to maintain energy homeostasis and prevent oxidative stress. Miro is an outer mitochondrial membrane protein that anchors mitochondria to microtubule motors and is removed to stop mitochondrial motility as an early step in the clearance of dysfunctional mitochondria. Here, using human induced pluripotent stem cell (iPSC)-derived neurons and other complementary models, we build on a previous connection of Parkinson's disease (PD)-linked PINK1 and Parkin to Miro by showing that a third PD-related protein, LRRK2, promotes Miro removal by forming a complex with Miro...
August 25, 2016: Cell Stem Cell
Ying Wan, Yi Luo, Jing Gan, Rongguo Hu, Mingzhu Zhou, Zhenguo Liu
OBJECTIVE: It is reported that neurodegenerative markers of Parkinson's disease occur in patients with idiopathic rapid eye movement sleep behavior disorder (idiopathic RBD); however, it has been unknown in Chinese patients. This study aims to provide a detailed understanding of the clinical features of Chinese patients with idiopathic RBD. METHODS: We conducted a series of Parkinson related motor and non-motor assessments in 181 participants including 41 patients with idiopathic RBD, 35 Parkinson's patients without RBD, 42 Parkinson's patients with RBD, and 63 healthy controls...
November 2016: Clinical Neurology and Neurosurgery
Hayate Javed, Sheikh Azimullah, Salema B Abul Khair, Shreesh Ojha, M Emdadul Haque
BACKGROUND: Parkinson disease (PD) is a movement disorder affecting 1 % of people over the age of 60. The etiology of the disease is unknown; however, accumulating evidence suggests that mitochondrial defects, oxidative stress, and neuroinflammation play important roles in developing the disease. Current medications for PD can only improve its symptoms, but are unable to halt its progressive nature. Although many therapeutic approaches are available, new drugs are urgently needed for the treatment of PD...
2016: BMC Neuroscience
Julia Heller, Nikolina Brcina, Imis Dogan, Florian Holtbernd, Sandro Romanzetti, Jörg B Schulz, Johannes Schiefer, Kathrin Reetz
Idiopathic rapid eye movement (REM) sleep behavior disorder (RBD) is a parasomnia characterized by the loss of physiological atonia of skeletal muscles with abnormal behavior during dream sleep. RBD may be the initial manifestation of neurodegenerative diseases, particularly of α-synucleinopathies such as Parkinson's disease (PD), dementia with Lewy bodies (DLB), and multiple system atrophy (MSA). However, gauging the individual risk of subsequent phenoconversion and making assumptions on the type of disease that may subsequently follow RBD is challenging...
June 25, 2016: Sleep Medicine Reviews
Armando De Virgilio, Antonio Greco, Giovanni Fabbrini, Maurizio Inghilleri, Maria Ida Rizzo, Andrea Gallo, Michela Conte, Chiara Rosato, Mario Ciniglio Appiani, Marco de Vincentiis
Parkinson's disease is a neurodegenerative disease that causes the death of dopaminergic neurons in the substantia nigra. The resulting dopamine deficiency in the basal ganglia leads to a movement disorder that is characterized by classical parkinsonian motor symptoms. Parkinson's disease is recognized as the most common neurodegenerative disorder after Alzheimer's disease. PD ethiopathogenesis remains to be elucidated and has been connected to genetic, environmental and immunologic conditions. The past decade has provided evidence for a significant role of the immune system in PD pathogenesis, either through inflammation or an autoimmune response...
October 2016: Autoimmunity Reviews
Christopher J Gaffney, Freya Shephard, Jeff Chu, David L Baillie, Ann Rose, Dumitru Constantin-Teodosiu, Paul L Greenhaff, Nathaniel J Szewczyk
BACKGROUND: Declines in skeletal muscle structure and function are found in various clinical populations, but the intramuscular proteolytic pathways that govern declines in these individuals remain relatively poorly understood. The nematode Caenorhabditis elegans has been developed into a model for identifying and understanding these pathways. Recently, it was reported that UNC-105/degenerin channel activation produced muscle protein degradation via an unknown mechanism. METHODS: Generation of transgenic and double mutant C...
May 2016: Journal of Cachexia, Sarcopenia and Muscle
Rubens Paulo Araújo Salomão, José Luiz Pedroso, Maria Thereza Drumond Gama, Lívia Almeida Dutra, Ricardo Horta Maciel, Clécio Godeiro-Junior, Hsin Fen Chien, Hélio A G Teive, Francisco Cardoso, Orlando G P Barsottini
Neurodegeneration with brain iron accumulation (NBIA) represents a heterogeneous and complex group of inherited neurodegenerative diseases, characterized by excessive iron accumulation, particularly in the basal ganglia. Common clinical features of NBIA include movement disorders, particularly parkinsonism and dystonia, cognitive dysfunction, pyramidal signs, and retinal abnormalities. The forms of NBIA described to date include pantothenase kinase-associated neurodegeneration (PKAN), phospholipase A2 associated neurodegeneration (PLAN), neuroferritinopathy, aceruloplasminemia, beta-propeller protein-associated neurodegeneration (BPAN), Kufor-Rakeb syndrome, mitochondrial membrane protein-associated neurodegeneration (MPAN), fatty acid hydroxylase-associated neurodegeneration (FAHN), coenzyme A synthase protein-associated neurodegeneration (CoPAN) and Woodhouse-Sakati syndrome...
July 2016: Arquivos de Neuro-psiquiatria
Stuart J McCarter, Erik K St Louis, Bradley F Boeve
Sleep disorders appear to be frequent comorbidities in patients with frontotemporal dementia (FTD). Insomnia and excessive daytime sleepiness commonly occur in patients with FTD and significantly contribute to caregiver burden and burnout. Sleep is severely fragmented in FTD patients, likely secondary to behavioral disturbances, other primary sleep disorders such as sleep disordered breathing and restless leg syndrome, and neurodegeneration of nuclei involved in sleep and wakefulness. Treatment of primary sleep disorders may improve excessive daytime sleepiness and sleep quality and may improve daytime cognitive functioning...
September 2016: Current Neurology and Neuroscience Reports
C Tranchant, M Anheim
Mitochondrial diseases (MIDs) are a large group of heterogeneous disorders due to mutations in either mitochondrial DNA (mtDNA) or nuclear DNA (nDNA) genes, the latter encoding proteins involved in mitochondrial function. A multisystem clinical picture that involves several organs, including both the peripheral and central nervous systems, is a common presentation of MID. Movement disorders, even isolated ones, are not rare. Cerebellar ataxia is common in myoclonic epilepsy with ragged red fibers (MERFF) due to mutations in the mitochondrial transfer RNA (tRNA) lysine gene, in Kearns-Sayre syndrome due to mtDNA deletions, in sensory ataxic neuropathy with dysarthria and ophthalmoplegia (SANDO) due to nuclear POLG1 gene mutations, and also in ARCA2, Friedreich's ataxia, SPG7, SCA28 and autosomal-recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) due to mutations in nuclear genes involved in mitochondrial morphology or function...
August 2016: Revue Neurologique
Péter Ács, Mária Judit Molnár, Péter Klivényi, Bernadette Kálmán
The rare, genetically determined group of diseases characterized by pathological accumulation of iron in the central nervous system and progressive, typically movement disorder's symptoms are called NBIA (neurodegeneration with brain iron accumulation). By the rapid development of molecular genetics, it has become apparent that different mutations in numerous genes can lead to pathological cerebral iron accumulation. Simultaneously, it has also been recognized that the age of onset, the symptoms and the prognosis of NBIA disorders are much more diverse than it was previously perceived...
March 30, 2016: Ideggyógyászati Szemle
Ronald B Postuma, Amelie Pelletier, Daniela Berg, Jean-Francois Gagnon, Frédérique Escudier, Jacques Montplaisir
OBJECTIVE/BACKGROUND: Neuroprotective therapy for Parkinson's disease (PD) is most likely to be effective if provided in its prodromal stages. However, identifying prodromal PD is difficult because PD is relatively uncommon, and most markers are nonspecific. Rapid eye movement (REM) sleep behavior disorder (RBD) is by far the strongest clinical marker of prodromal PD, but most patients do not seek out medical attention. Developing an efficient way of diagnosing RBD from the general community may be the most practical method to detect prodromal PD...
May 2016: Sleep Medicine
Yan-Fang Li, Hong-Fu Li, Yan-Bin Zhang, Ji-Min Wu
Pantothenate kinase-associated neurodegeneration (PKAN) is a rare autosomal recessive neurodegenerative disorder resulting from pantothenate kinase 2 (PANK2) gene mutations. It is clinically characterized by early onset of extrapyramidal symptoms, with or without pigmentary retinopathy, optic atrophy and acanthocytosis. The specific radiographic appearance of PKAN is the eye-of-the-tiger sign. However, there are few studies regarding PKAN patients of Chinese Han ancestry. In the present study, a Chinese 20-year-old female with an 8-year history of unsteady walking and involuntary movements is described...
August 2016: Biomedical Reports
Marta Tunesi, Federica Fusco, Fabio Fiordaliso, Alessandro Corbelli, Gloria Biella, Manuela T Raimondi
Frontotemporal lobar degeneration (FTLD) is a severe neurodegenerative disorder that is diagnosed with increasing frequency in clinical setting. Currently, no therapy is available and in addition the molecular basis of the disease are far from being elucidated. Consequently, it is of pivotal importance to develop reliable and cost-effective in vitro models for basic research purposes and drug screening. To this respect, recent results in the field of Alzheimer's disease have suggested that a tridimensional (3D) environment is an added value to better model key pathologic features of the disease...
2016: Frontiers in Aging Neuroscience
Nicola Pavese, Yen F Tai
In this chapter, we will discuss the contributions of structural and functional imaging to the diagnosis and management of genetic and degenerative diseases that lead to the occurrence of movement disorders. We will mainly focus on Huntington's disease, Wilson's disease, dystonia, and neurodegeneration with brain iron accumulation, as they are the more commonly encountered clinical conditions within this group.
2016: Handbook of Clinical Neurology
Lynn A Raymond
Synaptic dysfunction and altered calcium homeostasis in the brain is common to many neurodegenerative disorders. Among these, Huntington disease (HD), which is inherited in an autosomal dominant fashion, can serve as a model for investigating these mechanisms. HD generally manifests in middle age as a disorder of movement, mood and cognition. An expanded polymorphic CAG repeat in the HTT gene results in progressive neurodegeneration that impacts striatal spiny projection neurons (SPNs) earliest and most severely...
July 13, 2016: Biochemical and Biophysical Research Communications
F Marxreiter, A Storch, J Winkler
Parkinson's disease (PD) is the most common age-related movement disorder and characterized by slowly progressive neurodegeneration resulting in motor symptoms, such as bradykinesia, rigidity, tremor and postural instability. Moreover, non-motor symptoms, such as hyposmia, anxiety and depression reduce the quality of life in PD. Motor symptoms are associated with a distinct striatal dopaminergic deficit resulting from axonal dysfunction and neuronal loss in the substantia nigra (SN). Recent progress in stem cell technology allows the optimization of cellular transplantation strategies in order to alleviate the motor deficit, which potentially leads to a reactivation of this therapeutic strategy...
August 2016: Der Nervenarzt
Fabian Philippart, Geoffrey Destreel, Paulina Merino-Sepúlveda, Pablo Henny, Dominique Engel, Vincent Seutin
: Dopaminergic (DA) neurons located in the ventral midbrain continuously generate a slow endogenous pacemaker activity, the mechanism of which is still debated. It has been suggested that, in the substantia nigra pars compacta (SNc), the pacemaking relies more on Ca(2+) channels and that the density of L-type Ca(2+) channels is higher in these DA neurons than in those located in the ventral tegmental area (VTA). This might lead to a higher Ca(2+) load in SNc DA neurons and explain their higher susceptibility to degeneration...
July 6, 2016: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
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"