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Cerebellar dysfunction

Yuichi Hayashi, Nobuaki Yoshikura, Akira Takekoshi, Megumi Yamada, Takahiko Asano, Akio Kimura, Katsuya Satoh, Tetsuyuki Kitamoto, Takashi Inuzuka
Creutzfeldt-Jakob disease (CJD) with a causative point mutation of valine to isoleucine at codon 180 (V180I) is one of the major types of genetic CJD (gCJD) in Japan. V180I gCJD is rarely accompanied by a family history, and its clinical characteristics include late-onset, long disease duration, and edematous cortical hyperintensity in diffusion, fluid attenuate inversion and T2-weighted MRI. We performed serial imaging with single-photon emission computed tomography (SPECT) and MRI in three V180I gCJD cases over long-term observation...
November 15, 2016: Journal of the Neurological Sciences
Shilpa D Kulkarni, Meenal Garg, Rafat Sayed
BACKGROUND: Cerebrotendinous xanthomatosis is an inherited lipid storage disease manifesting with infantile onset diarrhea, cataracts, xanthomas and adult-onset neurological dysfunction with cerebellar signs and neuropathy. CASE CHARACTERISTICS: 10-year-old boy presented with progressive ataxia, neuropathy and cataracts. Over 6 years, he developed dementia, kyphoscoliosis with worsening ataxia, and neuropathy. OUTCOME: Sterol analysis and CYP27A1 sequencing confirmed the diagnosis...
October 8, 2016: Indian Pediatrics
Yuan-Bo Wu, Li Zhang, Wen-Ting Li, Yi Yang, Jiang-Ming Zhao
BACKGROUND: Artesunate (ART) is an antimalarial drug with potential anti-inflammatory effect. This study aimed to explore the potential protective role of ART in hepatic encephalopathy (HE), involving its function against ammonia toxicity. METHODS: HE rats were induced by the administration of thioacetamide (TAA, 300mg/kg/day). Spatial learning ability was tested in both Morris water and eight-arm radial maze. Rat cerebellar granule neurons (CGNs) were prepared for ammonia treatment in vitro, in line with SH-SY5Y and C6 cells...
October 17, 2016: Biomedicine & Pharmacotherapy, Biomédecine & Pharmacothérapie
M Pistacchi, M Gioulis, F Sanson, S M Marsala
INTRODUCTION: Fahr's disease is characterized by bilateral calcium deposition within the basal ganglia, cerebellar dentate nucleus and subcortical brain white matter. The main clinical manifestations are rigid or hyperkinetic syndrome, mood disorders and cognitive impairment. The correlation between neurological impairment and symmetrical basal ganglia calcification is not so frequent. Aim of the study was to report the results of neurological assessment of three sporadic cases of Fahr's disease highlighting a correlation between the clinical syndrome and neuroimaging...
2016: Folia Neuropathologica
Rangaswamy, V Ranjith, L Vikas, R Santosh
Fahr's disease or Fahr's syndrome is a rare neurodegenerative disorder characterized by abnormal symmetrical calcifications of the basal ganglia, thalami, sub-cortical hemispheric white matter and deep cerebellar nuclei. It can be idiopathic or associated with an endocrinopathy, frequently with parathyroid disorder. Clinical spectrum of the disease is wide ranging from neurological features like seizure, syncope, stroke like events, extra-pyramidal symptoms often combined with frontal sub-cortical pattern of behavioural dysfunction and psychiatric symptoms such as psychosis, mood disorder and dementia...
August 2016: Journal of the Association of Physicians of India
Yanling Wei, Jun Yang, Jun Wang, Yang Yang, Juan Huang, Hao Gong, Hongli Cui, Dongfeng Chen
BACKGROUND: The dysbiosis of intestinal microbiota plays an important role in the development of gut-derived infections, making it a potential therapeutic target against multiple organ dysfunction syndrome (MODS) after sepsis. However, the effectiveness of fecal microbiota transplantation (FMT) in treating this disease has been rarely investigated. METHODS: Two male patients, a 65-year-old and an 84-year-old, were initially diagnosed with cerebellar hemorrhage and cerebral infarction, respectively, after admission...
October 18, 2016: Critical Care: the Official Journal of the Critical Care Forum
Robert C A M van Waardenburg
Tyrosyl-DNA phosphodiesterase I (TDP1), like most DNA repair associated proteins, is not essential for cell viability. However, dysfunctioning TDP1 or ATM (ataxia telangiectasia mutated) results in autosomal recessive neuropathology with similar phenotypes, including cerebellar atrophy. Dual inactivation of TDP1 and ATM causes synthetic lethality. A TDP1H(493)R catalytic mutant is associated with spinocerebellar ataxia with axonal neuropathy (SCAN1), and stabilizes the TDP1 catalytic obligatory enzyme-DNA covalent complex...
2016: Journal of Neurology & Neuromedicine
Alon Kalron, Uri Givon, Lior Frid, Mark Dolev, Anat Achiron
Balance impairment is common in people with multiple sclerosis (PwMS) and frequently impacts quality of life by decreasing mobility and increasing the risk of falling. However, there are only scarce data examining the contribution of specific neurological functional systems on balance measures in MS. Therefore, the primary aim of our study was to examine the differences in posturography parameters and fall incidence according to the pyramidal, cerebellar and sensory systems functional systems in PwMS. The study included 342 PwMS, 211 women and mean disease duration of 8...
2016: PloS One
Christian Wächter, Lee E Eiden, Nedye Naumann, Candan Depboylu, Eberhard Weihe
BACKGROUND: The majority of investigations on HIV-associated neurocognitive disorders (HAND) neglect the cerebellum in spite of emerging evidence for its role in higher cognitive functions and dysfunctions in common neurodegenerative diseases. METHODS: We systematically investigated the molecular and cellular responses of the cerebellum as contributors to lentiviral infection-induced neurodegeneration, in the simian immunodeficiency virus (SIV)-infected rhesus macaque model for HIV infection and HAND...
October 14, 2016: Journal of Neuroinflammation
Vikram G Shakkottai, Amit Batla, Kailash Bhatia, William T Dauer, Christian Dresel, Martin Niethammer, David Eidelberg, Robert S Raike, Yoland Smith, H A Jinnah, Ellen J Hess, Sabine Meunier, Mark Hallett, Rachel Fremont, Kamran Khodakhah, Mark S LeDoux, Traian Popa, Cécile Gallea, Stéphane Lehericy, Andreea C Bostan, Peter L Strick
A role for the cerebellum in causing ataxia, a disorder characterized by uncoordinated movement, is widely accepted. Recent work has suggested that alterations in activity, connectivity, and structure of the cerebellum are also associated with dystonia, a neurological disorder characterized by abnormal and sustained muscle contractions often leading to abnormal maintained postures. In this manuscript, the authors discuss their views on how the cerebellum may play a role in dystonia. The following topics are discussed: The relationships between neuronal/network dysfunctions and motor abnormalities in rodent models of dystonia...
October 12, 2016: Cerebellum
Evandro Fei Fang, Henok Kassahun, Deborah L Croteau, Morten Scheibye-Knudsen, Krisztina Marosi, Huiming Lu, Raghavendra A Shamanna, Sumana Kalyanasundaram, Ravi Chand Bollineni, Mark A Wilson, Wendy B Iser, Bradley N Wollman, Marya Morevati, Jun Li, Jesse S Kerr, Qiping Lu, Tyler B Waltz, Jane Tian, David A Sinclair, Mark P Mattson, Hilde Nilsen, Vilhelm A Bohr
Ataxia telangiectasia (A-T) is a rare autosomal recessive disease characterized by progressive neurodegeneration and cerebellar ataxia. A-T is causally linked to defects in ATM, a master regulator of the response to and repair of DNA double-strand breaks. The molecular basis of cerebellar atrophy and neurodegeneration in A-T patients is unclear. Here we report and examine the significance of increased PARylation, low NAD(+), and mitochondrial dysfunction in ATM-deficient neurons, mice, and worms. Treatments that replenish intracellular NAD(+) reduce the severity of A-T neuropathology, normalize neuromuscular function, delay memory loss, and extend lifespan in both animal models...
October 11, 2016: Cell Metabolism
Zhenghua Hou, Yuxiu Sui, Xiaopeng Song, Yonggui Yuan
The intuitive association between cognitive impairment and aberrant functional activity in the brain network has prompted interest in exploring the role of functional connectivity in late-onset depression (LOD). The relationship of altered voxel-mirrored homotopic connectivity (VMHC) and cognitive dysfunction in LOD is not yet well understood. This study was designed to examine the implicit relationship between the disruption of interhemispheric functional coordination and cognitive impairment in LOD. LOD patients (N = 31) and matched healthy controls (HCs; N = 37) underwent neuropsychological tests and functional magnetic resonance imaging (fMRI) in this study...
2016: Frontiers in Aging Neuroscience
Meredith Meyer, Attila D Kovács, David A Pearce
Infantile CLN1 disease, also known as infantile neuronal ceroid lipofuscinosis, is a fatal childhood neurodegenerative disorder caused by mutations in the CLN1 gene. CLN1 encodes a soluble lysosomal enzyme, palmitoyl protein thioesterase 1 (PPT1), and it is still unclear why neurons are selectively vulnerable to the loss of PPT1 enzyme activity in infantile CLN1 disease. To examine the effects of PPT1 deficiency on several well-defined neuronal signaling and cell death pathways, different toxic insults were applied in cerebellar granule neuron cultures prepared from wild type (WT) and palmitoyl protein thioesterase 1-deficient (Ppt1 (-/-) ) mice, a model of infantile CLN1 disease...
October 8, 2016: Metabolic Brain Disease
Monika Albert, Alonso Barrantes-Freer, Melanie Lohrberg, Jack P Antel, John W Prineas, Miklós Palkovits, Joachim R Wolff, Wolfgang Brück, Christine Stadelmann
In multiple sclerosis, cerebellar symptoms are associated with clinical impairment and an increased likelihood of progressive course. Cortical atrophy and synaptic dysfunction play a prominent role in cerebellar pathology and although the dentate nucleus is a predilection site for lesion development, structural synaptic changes in this region remain largely unexplored. Moreover, the mechanisms leading to synaptic dysfunction have not yet been investigated at an ultrastructural level in multiple sclerosis. Here we report on synaptic changes of dentate nuclei in post-mortem cerebella of 16 multiple sclerosis patients and eight controls at the histological level as well as an electron microscopy evaluation of afferent synapses of the cerebellar dentate and pontine nuclei of one multiple sclerosis patient and one control...
October 5, 2016: Brain Pathology
Michelle A Farrar, Steve Vucic, Garth Nicholson, Matthew C Kiernan
OBJECTIVE: Spinocerebellar ataxia type 3 (SCA3) is an inherited neurodegenerative disorder characterized by cerebellar ataxia and variable expression of clinical features beyond the cerebellum. To gain further insights into disease pathophysiology, the present study explored motor cortex function in SCA3 to determine whether cortical dysfunction was present and if this contributed to the development of clinical manifestations. METHODS: Clinical phenotyping and longitudinal assessments were combined with central (threshold-tracking transcranial magnetic stimulation) and peripheral (nerve excitability) techniques in 11 genetically characterized SCA3 patients...
September 15, 2016: Clinical Neurophysiology: Official Journal of the International Federation of Clinical Neurophysiology
Q-Z Zhang
Dystroglycanopathies are muscular dystrophies caused by mutations in genes involved the in O-linked glycosylation of α-dystroglycan. Severe forms of these conditions result in abnormalities in exhibit brain and ocular developmental too, in addition to muscular dystrophy. The full spectrum of developmental pathology is caused mainly by loss of dystroglycan from Bergmann glia. Moreover, cognitive deficits are constant features of severe forms of dystroglycanopathies. However, the precise molecular mechanism leading to neuronal dysfunction in these diseases is not fully known yet...
September 2016: European Review for Medical and Pharmacological Sciences
Eda Derle, Aslı Tuncer Kurne, Bahadır Konuşkan, Rana Karabudak, Banu Anlar
BACKGROUND: The prevalence of MS starting under 18 years of age ranges between 2-10% of the total MS population. OBJECTIVE: We aimed to examine the clinical and long term follow-up data of pediatric-onset cases in our institutional MS database. METHOD: We evaluated the clinical data from the MS database of the Departments of Neurology and Pediatric Neurology of Hacettepe University Hospital. RESULTS: The clinical features of 74 patients who had experienced the first attack before age 18 years comprised 3...
September 2016: Multiple Sclerosis and related Disorders
Julián Benito-León, Elan D Louis, Virginia Mato-Abad, Ulrike Dydak, Juan Álvarez-Linera, Juan Antonio Hernández-Tamames, José Antonio Molina-Arjona, Norberto Malpica, Michele Matarazzo, Juan Pablo Romero, Álvaro Sánchez-Ferro
The pathogenesis of orthostatic tremor (OT) remains unclear, although some evidence points to dysfunction in the brainstem or cerebellum. We used single voxel proton magnetic resonance spectroscopy (1H-MRS) (3 T) to investigate whether neurochemical changes underlie abnormal cerebellar or cortical function in OT. Fourteen OT patients and 14 healthy controls underwent 1H-MRS studies with voxels placed in midparietal gray matter and cerebellum (vermis and central white matter). Spectral analysis was analyzed using the software package LCModel (version 6...
September 2016: Medicine (Baltimore)
Fábio A Nascimento, Danielle M Andrade
Progressive myoclonus epilepsy (PME) is a distinct group of seizure disorders characterized by gradual neurological decline with ataxia, myoclonus and recurring seizures. There are several forms of PME, among which the most recently described is MEAK - myoclonus epilepsy and ataxia due to potassium channel mutation. This particular subtype is caused by a recurrent de novo heterozygous mutation (c.959G>A, p.Arg320His) in the KCNC1 gene, which maps to chromosome 11 and encodes for the Kv3.1 protein (a subunit of the Kv3 subfamily of voltage-gated potassium channels)...
September 1, 2016: Epileptic Disorders: International Epilepsy Journal with Videotape
Yan Ding, Yue-Qing Hu, Shu-Qin Zhan, Cun-Jiang Li, Hong-Xing Wang, Yu-Ping Wang
BACKGROUND: The brain stem is found to be impaired in multiple system atrophy-cerebellar types (MSA-C). Rapid eye movement (REM) sleep behavior disorder (RBD) is reported as a marker of progressive brain stem dysfunction. Few systematic studies about the sleep disturbances in MSA-C patients combined with or without RBD were reported. This study aimed to explore the polysomnographic (PSG) features of sleep disturbances between MSA-C patients with and without RBD. METHODS: Totally, 46 MSA-C patients (23 with RBD, and 23 without RBD) were enrolled in this study...
2016: Chinese Medical Journal
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