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https://www.readbyqxmd.com/read/28805573/nonmotor-features-in-atypical-parkinsonism
#1
Kailash P Bhatia, Maria Stamelou
Atypical parkinsonism (AP) comprises mainly multiple system atrophy (MSA), progressive supranuclear palsy (PSP), and corticobasal degeneration (CBD), which are distinct pathological entities, presenting with a wide phenotypic spectrum. The classic syndromes are now called MSA-parkinsonism (MSA-P), MSA-cerebellar type (MSA-C), Richardson's syndrome, and corticobasal syndrome. Nonmotor features in AP have been recognized almost since the initial description of these disorders; however, research has been limited...
2017: International Review of Neurobiology
https://www.readbyqxmd.com/read/28801086/slowly-progressive-leukodystrophy-in-an-adolescent-male-with-phosphoglycerate-kinase-deficiency
#2
Shimpei Baba, Ayumi Kobayashi, Haruna Yokoyama, Kengo Moriyama, Ayako Kashimada, Jun Oyama, Ayako Owada, Shoichi Oyama, Tomohiro Morio, Masatoshi Takagi
We report the case of an 18-year-old man with a phosphoglycerate kinase (PGK) deficiency who had slowly progressive leukodystrophy during adolescence. The patient had a history of severe neonatal jaundice, hemolytic crisis with rhabdomyolysis triggered by febrile viral infections, dysarthria, and intellectual disability during early childhood. Clumsiness in walking and writing became obvious at ∼10years of age. Evaluations performed by us on the 18-year-old patient confirmed the presence of pyramidal tract signs, increased muscle tone, and generalized dystonia...
August 8, 2017: Brain & Development
https://www.readbyqxmd.com/read/28799873/-birdlime-technique-using-tachosil-tissue-sealing-sheet-soaked-with-fibrin-glue-for-sutureless-vessel-transposition-in-microvascular-decompression-operative-technique-and-nuances
#3
Naoki Otani, Terushige Toyooka, Kazuya Fujii, Kosuke Kumagai, Satoru Takeuchi, Arata Tomiyama, Yasuaki Nakao, Takuji Yamamoto, Kojiro Wada, Kentaro Mori
OBJECTIVE Microvascular decompression (MVD) is effective for the treatment of trigeminal neuralgia (TN), hemifacial spasm (HFS), and glossopharyngeal neuralgia. The transposition technique is the standard procedure to avoid adhesions and granuloma around the decompression site but is more complex and difficult to perform than the interposition technique. The authors describe a simple and safe MVD transposition procedure they call the "birdlime" technique, which uses a tissue glue-coated collagen sponge soaked with fibrin glue, and the results of this technique...
August 11, 2017: Journal of Neurosurgery
https://www.readbyqxmd.com/read/28781913/nursing-review-section-of-surgical-neurology-international-evaluation-of-cervical-disc-disease-and-when-surgery-is-warranted
#4
REVIEW
Nancy E Epstein, Renee D Hollingsworth
BACKGROUND: Patients with cervical disc disease may present with radiculopathy (root compression), myelopathy (cord compression), or myeloradiculopathy. These complaints must be correlated with x-ray, magnetic resonance (MR) imaging, and computed tomographic (CT) scans. Although most patients can be managed nonsurgically, those with significant neurological deficits and larger disc herniations may require surgery. METHODS: The symptoms of cervical radiculopathy include pain radiating down one or both arms, while myelopathy may result in more diffuse numbness tingling or weakness in the upper and/or lower extremities...
2017: Surgical Neurology International
https://www.readbyqxmd.com/read/28776122/mechanisms-involved-in-the-remyelinating-effect-of-sildenafil
#5
Daniela Díaz-Lucena, María Gutierrez-Mecinas, Beatriz Moreno, José Lupicinio Martínez-Sánchez, Paula Pifarré, Agustina García
Remyelination occurs in demyelinated lesions in multiple sclerosis (MS) and pharmacological treatments that enhance this process will critically impact the long term functional outcome in the disease. Sildenafil, a cyclic GMP (cGMP)-specific phosphodiesterase 5 inhibitor (PDE5-I), is an oral vasodilator drug extensively used in humans for treatment of erectile dysfunction and pulmonary arterial hypertension. PDE5 is expressed in central nervous system (CNS) neuronal and glial populations and in endothelial cells and numerous studies in rodent models of neurological disease have evidenced the neuroprotective potential of PDE5-Is...
August 3, 2017: Journal of Neuroimmune Pharmacology: the Official Journal of the Society on NeuroImmune Pharmacology
https://www.readbyqxmd.com/read/28770651/multiple-system-atrophy-many-lessons-from-the-transcriptome
#6
Ashton Curry-Hyde, Bei Jun Chen, Uwe Ueberham, Thomas Arendt, Michael Janitz
Multiple system atrophy (MSA) is a complex, multifactorial, debilitating neurodegenerative disease that is often misdiagnosed and misunderstood. MSA has two subclasses, MSA-P and MSA-C, defined by the dominance of parkinsonism or cerebellar dysfunction in the earlier stages of disease, coupled with dysautonomia. This distinction between subclasses becomes largely redundant as the disease progresses. Aggregation of α-synuclein is a clinical marker used to confirm MSA diagnoses, which can only be performed postmortem...
August 1, 2017: Neuroscientist: a Review Journal Bringing Neurobiology, Neurology and Psychiatry
https://www.readbyqxmd.com/read/28769756/an-lmnb1-duplication-caused-adult-onset-autosomal-dominant-leukodystrophy-in-chinese-family-clinical-manifestations-neuroradiology-and-genetic-diagnosis
#7
Yi Dai, Yaling Ma, Shengde Li, Santasree Banerjee, Shengran Liang, Qing Liu, Yinchang Yang, Bin Peng, Liying Cui, Liri Jin
Autosomal dominant adult-onset demyelinating leukodystrophy (ADLD) is a very rare neurological disorder featured with late onset, slowly progressive central nervous system demyelination. Duplication or over expression of the lamin B1 (LMNB1) gene causes ADLD. In this study, we undertook a comprehensive clinical evaluation and genetic detection for a Chinese family with ADLD. The proband is a 52-year old man manifested with autonomic abnormalities, pyramidal tract dysfunction. MRI brain scan identified bilateral symmetric white matter (WM) hyper-intensities in periventricular and semi-oval WM, cerebral peduncles and middle cerebellar peduncles...
2017: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/28761810/cerebellar-degeneration-affects-cortico-cortical-connectivity-in-motor-learning-networks
#8
Elinor Tzvi, Christoph Zimmermann, Richard Bey, Thomas F Münte, Matthias Nitschke, Ulrike M Krämer
The cerebellum plays an important role in motor learning as part of a cortico-striato-cerebellar network. Patients with cerebellar degeneration typically show impairments in different aspects of motor learning, including implicit motor sequence learning. How cerebellar dysfunction affects interactions in this cortico-striato-cerebellar network is poorly understood. The present study investigated the effect of cerebellar degeneration on activity in causal interactions between cortical and subcortical regions involved in motor learning...
2017: NeuroImage: Clinical
https://www.readbyqxmd.com/read/28757777/delusions-of-control-in-a-case-of-schizophrenia-coexisting-with-a-large-cerebellar-arachnoid-cyst
#9
Ying-Ying Wu, Yu-Chih Shen
Arachnoid cyst is a benign, congenital space-occupying brain lesion, which has been found in patients with schizophrenia. The association between arachnoid cyst and schizophrenia remains controversial, but the location of the arachnoid cyst may give rise to a specific symptom presentation in schizophrenia. We present a 31-year-old woman with an established diagnosis of schizophrenia coexisting with a large cerebellar arachnoid cyst who presented mainly with delusions of control. This cerebellar arachnoid cyst and schizophrenia may have been found together coincidentally or brain dysfunction due to this cerebellar arachnoid cyst may have caused or contributed to the appearance of psychotic symptoms...
April 2017: Ci Ji Yi Xue za Zhi, Tzu-chi Medical Journal
https://www.readbyqxmd.com/read/28754506/the-differentiated-networks-related-to-essential-tremor-onset-and-its-amplitude-modulation-after-alcohol-intake
#10
David J Pedrosa, Christian Nelles, Peter Brown, Lukas J Volz, Esther A Pelzer, Marc Tittgemeyer, John-Stuart Brittain, Lars Timmermann
The dysregulation of endogenous rhythms within brain networks have been implicated in a broad range of motor and non-motor pathologies. Essential tremor (ET), classically the purview of a single aberrant pacemaker, has recently become associated with network-level dysfunction across multiple brain regions. Specifically, it has been suggested that motor cortex constitutes an important node in a tremor-generating network involving the cerebellum. Yet the mechanisms by which these regions relate to tremor remain a matter of considerable debate...
July 25, 2017: Experimental Neurology
https://www.readbyqxmd.com/read/28742507/severe-neurological-abnormalities-in-a-young-boy-with-impaired-thyroid-hormone-sensitivity-due-to-a-novel-mutation-in-the-mct8-gene
#11
Teresa Rego, Carmen Gomez Lado, Paloma Cabanas Rodríguez, Francisco Sousa Santos, Francisco Barros Angueira, Lidia Castro-Feijóo, Jesús Barreiro Conde, Manuel Castro-Gago
Monocarboxylate transporter 8 (MCT8) is an active and specific thyroid hormone transporter into neurons. MCT8 mutations cause an X-linked condition known as Allan-Herndon-Dudley syndrome and are characterized by impaired psychomotor development and typical abnormal thyroid function. We describe a 10-year-old boy with severe cognitive disability, axial hypotonia, spastic quadriplegia and sporadic dyskinetic episodes. He initially presented with thyroid dysfunction (high FT3, low rT3, low FT4 and normal TSH) and generalized retardation of the cerebral and cerebellar myelination in brain magnetic resonance imaging...
April 2017: Hormones: International Journal of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28738819/increased-biological-activity-of-protein-kinase-c-gamma-is-not-required-in-spinocerebellar-ataxia-14
#12
Etsuko Shimobayashi, Josef P Kapfhammer
Spinocerebellar ataxia (SCA) is an autosomal dominant neurodegenerative disorder characterized by slowly progressive cerebellar dysfunction. Currently, 42 SCA types are known, some of which are caused by CAG repeat expansions, but others are caused by point mutations or deletions. Spinocerebellar ataxia type 14 (SCA14) is caused by missense mutations or deletions in the PRKCG gene, coding for protein kinase C gamma (PKCγ). It is still not well understood how these mutations eventually cause Purkinje cell dysfunction and death...
July 24, 2017: Molecular Brain
https://www.readbyqxmd.com/read/28735798/the-etiology-of-essential-tremor-genes-versus-environment
#13
Franziska Hopfner, Rick C Helmich
INTRODUCTION: Essential tremor (ET) is characterized by bilateral upper limb action tremor. Here we review the pathophysiology (cerebral mechanisms) and etiology (genetic and environmental risk factors) of ET. METHODS: We reviewed the literature (until June 2017) by searching PubMed for relevant papers. RESULTS: The pathophysiology of ET involves oscillatory activity in the cortico-olivo-cerebello-thalamic circuit, evidenced by electrophysiological and metabolic imaging...
July 17, 2017: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/28723727/longitudinal-analysis-of-motor-symptoms-and-histopathology-in-woozy-mice-a-model-of-cerebellar-ataxia
#14
Takemitsu Hayashi, Tomoya Onozato, Isao Wanajo, Morimichi Hayashi, Hiroo Takeda, Yoshikazu Fujimori
Woozy (wz) mice develop ataxia and carry a mutation in the Sil1 gene. Homozygous wz mice have been characterized histopathologically, but no details of their motor function have been reported. In the present study, to comprehensively understand the relationship between symptomatic progression and pathological feature, we evaluated motor function and neurodegeneration with age from presymptomatic to terminal stages. We evaluated the motor function of homozygous and heterozygous wz mice aged from 5 to 71 weeks...
September 6, 2017: Neuroreport
https://www.readbyqxmd.com/read/28701995/cerebellar-dysfunction-in-multiple-sclerosis
#15
REVIEW
Alastair Wilkins
Multiple sclerosis (MS) commonly affects the cerebellum causing acute and chronic symptoms. Cerebellar signs contribute significantly to clinical disability, and symptoms such as tremor, ataxia, and dysarthria are particularly difficult to treat. Increasing knowledge concerning the pathophysiology of cerebellar disease in MS from human postmortem studies, experimental models, and clinical trials has raised the hope that cerebellar symptoms will be better treated in the future.
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/28698611/flavonoid-enhances-the-glyoxalase-pathway-in-cerebellar-neurons-to-retain-cellular-functions
#16
Joel Frandsen, Prabagaran Narayanasamy
Oxidative stress is damaging to cells and contributes to aging and neurodegenerative disease. This state is mediated by production of imbalanced molecules, and reactive dicarbonyl compounds - mainly methylglyoxal. The glyoxalase pathway is an antioxidant defense system utilized to detoxify methylglyoxal and neutralize free radicals. Pathway dysfunction leads to overproduction and accumulation of toxic, prooxidant compounds. We hypothesize flavonoid treatment as a means to enhance the glyoxalase pathway's ability to detoxify in neurons...
July 11, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28690584/decompression-in-chiari-malformation-clinical-ocular-motor-cerebellar-and-vestibular-outcome
#17
Nicolina Goldschagg, Katharina Feil, Franziska Ihl, Siegbert Krafczyk, Mathias Kunz, Jörg Christian Tonn, Michael Strupp, Aurelia Peraud
BACKGROUND: Treatment of Chiari malformation can include suboccipital decompression with resection of one cerebellar tonsil. Its effects on ocular motor and cerebellar function have not yet been systematically examined. OBJECTIVE: To investigate whether decompression, including resection of one cerebellar tonsil, leads to ocular motor, vestibular, or cerebellar deficits. PATIENTS AND METHODS: Ten patients with Chiari malformation type 1 were systematically examined before and after (1 week and 3 months) suboccipital decompression with unilateral tonsillectomy...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/28689294/cerebellar-disease-associated-with-anti-glutamic-acid-decarboxylase-antibodies-review
#18
REVIEW
José Fidel Baizabal-Carvallo, Marlene Alonso-Juarez
Several neurological syndromes have been recognized associated to GAD antibodies. Among those disorders, cerebellar ataxia (CA) is one of the most common, along with stiff-person syndrome. Patients with GAD associated CA present with a progressive pancerebellar syndrome, with a subacute or chronic evolution, along with other neurological manifestations such as stiffness, oculomotor dysfunction, epilepsy, and cognitive dysfunction. These symptoms may be preceded by the so-called "brainstem attacks", where manifestations consistent with transient dysfunction of the brainstem may be observed...
July 8, 2017: Journal of Neural Transmission
https://www.readbyqxmd.com/read/28689261/investigation-of-cognitive-circuits-using-steady-state-cerebral-blood-volume-and-diffusion-tensor-imaging-in-patients-with-mild-cognitive-impairment-following-electrical-injury
#19
Chang-Hyun Park, Cheong Hoon Seo, Myung Hun Jung, So Young Joo, Soyeon Jang, Ho Young Lee, Suk Hoon Ohn
PURPOSE: We utilized cerebral blood volume (CBV) magnetic resonance imaging and diffusion tensor imaging (DTI) to investigate changes in cognitive networks in patients experiencing cognitive dysfunction following electrical injury. METHODS: Cognitive function was assessed across various domains, including attention, verbal memory, executive function, and language. Depressive symptoms were also evaluated. CBV maps and DTI measures were obtained from 24 patients (age, 41...
July 8, 2017: Neuroradiology
https://www.readbyqxmd.com/read/28688851/characterization-of-the-dominant-inheritance-mechanism-of-episodic-ataxia-type-2
#20
Kevin Dorgans, Julie Salvi, Federica Bertaso, Ludivine Bernard, Philippe Lory, Frederic Doussau, Alexandre Mezghrani
Episodic Ataxia type 2 (EA2) is an autosomal dominant neuronal disorder linked to mutations in the Cav2.1 subunit of P/Q-type calcium channels. In vitro studies have established that EA2 mutations induce loss of channel activity and that EA2 mutants can exert a dominant negative effect, suppressing normal Cav2.1 activity through protein misfolding and trafficking defects. To date, the role of this mechanism in the disease pathogenesis is unknown because no animal model exists. To address this issue, we have generated a mouse bearing the R1497X nonsense mutation in Cav2...
July 5, 2017: Neurobiology of Disease
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