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Ender Ayvat, Özge Onursal Kılınç, Fatma Ayvat, Gülşah Sütçü, Muhammed Kılınç, Songül Aksoy, Sibel Aksu Yıldırım
The aim of this study was to formulate an exercise program according to GAS, an approach that reflects the patients' point of view and expectations and investigate the effects of this program in ataxia rehabilitation. This study was designed as an assessor-blinded, single-group trial, and 24 patients with cerebellar ataxia were included. Treatment goals, postural control, disease severity, and daily living activities were assessed pre- and post-treatment using the Goal Attainment Scaling (GAS), the Sensory Organization Test (SOT), the International Cooperative Ataxia Rating Scale (ICARS), and the Barthel Index (BI), respectively...
March 2, 2018: Neurological Sciences
Michihiro Osumi, Masahiko Sumitani, Yuko Otake, Shu Morioka
Patients with central post-stroke sensory ataxia (CPSA) suffer from not only somatosensory dysfunction but also the ataxic movement disorder of the affected limb. These sensory and motor impairments possibly interfere each other, but such interference is still unclear. We evaluated smoothness of grasp movements in CPSA patients using a kinematic analysis, and verified the effect of somatosensory reference from the intact hand on grasp movements. Eight CPSA patients were enrolled. We recorded their reach-and-pinch movements of both affected and intact hands toward the tip of the 3-cm-diameter vertical bar, using a three-dimensional measurement system...
February 26, 2018: Experimental Brain Research. Experimentelle Hirnforschung. Expérimentation Cérébrale
Yuri A Blednov, Adriana J Da Costa, R Adron Harris, Robert O Messing
BACKGROUND: In our companion paper, we reported that the phosphodiesterase type 4 inhibitor apremilast reduced ethanol intake and preference in different drinking models in male and female C57BL/6J mice. In the current study, we measured the effects of apremilast on other behaviors that are correlated with ethanol consumption. METHODS: The effects of apremilast (20 mg/kg) on the following behaviors were studied in male and female C57BL/6J mice: locomotor response to a novel situation; ethanol- or LiCl-induced conditioned taste aversion (CTA) to saccharin; conditioned place preference (CPP) and conditioned place avoidance (CPA) to ethanol; severity of handling-induced convulsions after ethanol administration; ethanol-induced anxiolytic-like behavior in the elevated plus maze; duration of ethanol-induced loss of the righting reflex (LORR); recovery from ethanol-induced motor impairment on the rotarod; and acute functional tolerance (AFT) to ethanol...
February 22, 2018: Alcoholism, Clinical and Experimental Research
Hiroshi Mitoma, Mario Manto, Christiane S Hampe
The cerebellum characteristically has the capacity to compensate for and restore lost functions. These compensatory/restorative properties are explained by an abundant synaptic plasticity and the convergence of multimodal central and peripheral signals. In addition, extra-cerebellar structures contribute also to the recovery after a cerebellar injury. Clinically, some patients show remarkable improvement of severe ataxic symptoms associated with trauma, stroke, metabolism, or immune-mediated cerebellar ataxia (IMCA, e...
February 19, 2018: Cerebellum
Saleheddine Rekik, Francis Martin, Pauline Dodet, Stefania Redolfi, Smaranda Leu-Semenescu, Jean-Christophe Corvol, David Grabli, Isabelle Arnulf
OBJECTIVES: To determine the frequency of sleep breathing disorders in multiple systemic atrophy (MSA, combining Parkinsonism, cerebellar syndrome, and dysautonomia) and evaluate the benefit/tolerance of various modes of ventilation. METHODS: We retrospectively analyzed 45 patients with MSA having undergone a videopolysomnography. Their sleep characteristics were compared to those of 45 patients with Parkinson's disease and 45 healthy controls, matched for age and sex...
February 2018: Sleep Medicine
Christopher J Roome, Ruth M Empson
Expression of the fast calcium extrusion protein, PMCA2, in the cerebellum is amongst the highest found throughout the central nervous system, and unsurprisingly PMCA2 knockout mice exhibit cerebellar ataxia or loss of controlled movement. The sole output neurons of the cerebellar cortex, Purkinje neurons, are functionally compromised in these knockout mice, yet remarkably these neurons survive. In this mini-review we review and speculate on the importance of multiple PMCA2 dependent actions at cellular and synaptic sites within the cerebellar Purkinje neuron network...
January 10, 2018: Neuroscience Letters
Sakiko Itaya, Zen Kobayashi, Kokoro Ozaki, Nozomu Sato, Yoshiyuki Numasawa, Kinya Ishikawa, Takanori Yokota, Hiroshi Matsuda, Shuzo Shintani
A 58-year-old man consulted our hospital due to a 2-year history of dysarthria and a 1-month history of blepharospasm. In addition to the ataxic dysarthria and blepharospasm, a neurological examination demonstrated slight ataxia of the trunk and lower limbs. Brain MRI demonstrated atrophy of the upper portion of the cerebellar vermis. Gene analysis established a diagnosis of spinocerebellar ataxia type 31 (SCA31). SPECT with the three-dimensional stereotaxic ROI template (3DSRT) software program demonstrated hyperperfusion in the lenticular nucleus and thalamus...
February 9, 2018: Internal Medicine
Deborah Kinnear, Jill Morrison, Linda Allan, Angela Henderson, Elita Smiley, Sally-Ann Cooper
OBJECTIVES: To investigate the prevalence of multimorbidity in adults with intellectual disabilities with and without Down syndrome. DESIGN: Large, population-based cross-sectional study. SETTING: The geographical area of one Health Board, Scotland. PARTICIPANTS: All adults (aged 16+ years) known to general practitioners to have intellectual disabilities and adults receiving services provided or paid by intellectual disabilities health or social work services...
February 5, 2018: BMJ Open
Arnulf H Koeppen
Spinocerebellar ataxia type 3 (SCA-3)/Machado-Joseph disease (MJD), the most common autosomal dominant ataxia, affects many regions of the brain and spinal cord. Similar to SCA-1, SCA-2, SCA-6, SCA-7, and SCA-17, the mutation consists of a pathogenic translated cytosine-adenine-guanine (CAG) trinucleotide repeat expansion. Almost invariably, the substantia nigra and the dentate nucleus of the cerebellum bear the brunt of the disease, and these lesions account for the Parkinsonian and ataxic phenotypes. Lesions of motor nuclei in the brain stem cause the complex disturbance of ocular motility and weakness of the tongue...
2018: Advances in Experimental Medicine and Biology
Antonio E Elia, Caterina F Bagella, Francesca Ferré, Giovanna Zorzi, Daniela Calandrella, Luigi M Romito
Cerebral palsy (CP) is a heterogeneous group of syndromes that cause a non-progressive disorder of early onset, with abnormal control of movement and posture. Various aetiologies can cause the CP clinical spectrum, but all have a disruption of motor control in common. CP can be divided into four major types based on the motor disability: predominant spastic, dyskinetic, ataxic and mixed form. Dyskinetic CP (DCP) is the most common cause of acquired dystonia in children. The treatment of DCP is challenging because most individuals have mixed degrees of chorea, athetosis and dystonia...
December 14, 2017: European Journal of Paediatric Neurology: EJPN
Juan Pablo Loyola Rodríguez, Jose Luis Ayala-Herrera, Noel Muñoz-Gomez, Rita E Martínez-Martínez, Miguel Angel Santos-Díaz, Jose Honorio Olvera-Delgado, Alejandra Loyola-Leyva
OBJECTIVE: To compare dental caries and oral findings in patients affected by different types of Cerebral Palsy (CP). STUDY DESIGN: This cross-sectional study involved 120 children and adolescents with a diagnosis of CP. WHO diagnostic criteria were used to determine DMFT (caries diagnosis), the pocket depth and attachment level (periodontitis diagnosis). Additionally, the study evaluated dental erosion, traumatic dental injuries, treatment needs index (TNI), oral habits, malocclusions, gingival overgrowth, and dental fluorosis...
2018: Journal of Clinical Pediatric Dentistry
Stephanie De Munter, Dorien Bamps, Ana Rita Malheiro, Ritesh Kumar Baboota, Pedro Brites, Myriam Baes
BACKGROUND: Peroxisomes play a crucial role in normal neurodevelopment and in the maintenance of the adult brain. This depends largely on intact peroxisomal β-oxidation given the similarities in pathologies between peroxisome biogenesis disorders and deficiency of multifunctional protein-2 (MFP2), the central enzyme of this pathway. Recently, adult patients diagnosed with cerebellar ataxia were shown to have mild mutations in the MFP2 gene, hydroxy-steroid dehydrogenase (17 beta) type 4 (HSD17B4)...
January 17, 2018: Brain Pathology
Ruslan L Nuryyev, Toni L Uhlendorf, Wesley Tierney, Suren Zatikyan, Oleg Kopyov, Alex Kopyov, Jessica Ochoa, William Van Trigt, Cindy S Malone, Randy W Cohen
The use of regenerative medicine to treat nervous system disorders like ataxia has been proposed to either replace or support degenerating neurons. In this study, we assessed the ability of human neural progenitor cells (hNPCs) to repair and restore the function of dying neurons within the spastic Han-Wistar rat (sHW), a model of ataxia. The sHW rat suffers from neurodegeneration of specific neurons, including cerebellar Purkinje cells and hippocampal CA3 pyramidal cells leading to the observed symptoms of forelimb tremor, hind-leg rigidity, gait abnormality, motor incoordination, and a shortened life span...
November 2017: Cell Transplantation
Masanori Nakajima, Ayumi Uchibori, Yuki Ogawa, Tai Miyazaki, Yaeko Ichikawa, Kimihiko Kaneko, Toshiyuki Takahashi, Ichiro Nakashima, Hirokazu Shiraishi, Masakatsu Motomura, Atsuro Chiba
A 61-year-old woman who had smoked for 40 years developed subacute dizziness, ataxic gait, opsoclonus, and right visual impairment. She had right optic disc swelling and optic nerve gadolinium enhancement on magnetic resonance imaging. She had small-cell lung cancer (SCLC), with CV2/collapsin response mediator protein (CRMP) 5 and HuD antibodies in her serum and cerebrospinal fluid. She was diagnosed with paraneoplastic optic neuropathy (PON) accompanied by paraneoplastic opsoclonus-ataxia syndrome. Her symptoms improved after removing the SCLC...
January 11, 2018: Internal Medicine
Wan-Hung Lee, Li-Li Li, Aarti Chawla, Andy Hudmon, Yvonne Y Lai, Michael J Courtney, Andrea G Hohmann
Elevated N-methyl-D-aspartate receptor (NMDAR) activity is linked to central sensitization and chronic pain. However, NMDAR antagonists display limited therapeutic potential due to their adverse side effects. Novel approaches targeting the NR2B-PSD95-nNOS complex to disrupt signaling pathways downstream of NMDARs show efficacy in preclinical pain models. Here, we evaluated the involvement of interactions between neuronal nitric oxide synthase (nNOS) and the nitric oxide synthase 1 adaptor protein (NOS1AP) in pronociceptive signaling and neuropathic pain...
January 9, 2018: Pain
Shinya Ichimura, Helmut Bertalanffy, Masato Nakaya, Yoichi Mochizuki, Raita Fukaya, Goroku Moriwaki, Masahito Fukuchi, Koji Fujii
Primary medullary hemorrhage is a rare event that may result in ataxic respiration. Although it remains controversial whether primary medullary hemorrhage should be managed conservatively or surgically, recent advancements in neuroimaging and microsurgical techniques have shown promise for improving outcomes and prognosis following surgery. The present report discusses the case of a 70-year-old woman admitted to our institution due to sudden-onset nausea and vomiting. The patient underwent surgical removal of a right medullary hematoma for the treatment of daytime respiratory depression and nocturnal apnea while in the half-sitting position...
January 9, 2018: Journal of Neurological Surgery. Part A, Central European Neurosurgery
Reina Kawamura, Eiichiro Nagata, Masako Mukai, Yoichi Ohnuki, Tomohiko Matsuzaki, Kana Ohiwa, Tomoki Nakagawa, Mitsutomo Kohno, Ryota Masuda, Masayuki Iwazaki, Shunya Takizawa
A 54-year-old woman with adenocarcinoma of the lung and lymph node metastasis experienced nystagmus and cerebellar ataxia 2 weeks after initiating nivolumab therapy. An evaluation for several autoimmune-related antibodies and paraneoplastic syndrome yielded negative results. We eventually diagnosed the patient with nivolumab-induced acute cerebellar ataxia, after excluding other potential conditions. Her ataxic gait and nystagmus resolved shortly after intravenous steroid pulse therapy followed by the administration of decreasing doses of oral steroids...
2017: Internal Medicine
Kunihiro Yoshida, Satoshi Kuwabara, Katsuya Nakamura, Ryuta Abe, Akira Matsushima, Minako Beppu, Yoshitaka Yamanaka, Yuji Takahashi, Hidenao Sasaki, Hidehiro Mizusawa
Cortical cerebellar atrophy (CCA) and multiple system atrophy with predominant cerebellar ataxia (MSA-C) are the two major forms of adult-onset sporadic ataxia. Contrary to MSA-C, there are neither diagnostic criteria nor neuroimaging features pathognomonic for CCA. Therefore, it is assumed that the category of CCA in the Japanese national registry include heterogeneous cerebellar ataxic disorders. To refine this category in more detail, we here used a clinical-based term, "idiopathic cerebellar ataxia (IDCA)", and proposed its diagnostic criteria...
January 15, 2018: Journal of the Neurological Sciences
Stephanie C Koch, Marta Garcia Del Barrio, Antoine Dalet, Graziana Gatto, Thomas Günther, Jingming Zhang, Barbara Seidler, Dieter Saur, Roland Schüle, Martyn Goulding
Animals depend on sensory feedback from mechanosensory afferents for the dynamic control of movement. This sensory feedback needs to be selectively modulated in a task- and context-dependent manner. Here, we show that inhibitory interneurons (INs) expressing the RORβ orphan nuclear receptor gate sensory feedback to the spinal motor system during walking and are required for the production of a fluid locomotor rhythm. Genetic manipulations that abrogate inhibitory RORβ IN function result in an ataxic gait characterized by exaggerated flexion movements and marked alterations to the step cycle...
December 20, 2017: Neuron
Ellen Buckley, Claudia Mazzà, Alisdair McNeill
BACKGROUND: Cerebellar Ataxias are a group of gait disorders resulting from dysfunction of the cerebellum, commonly characterised by slowly progressing incoordination that manifests as problems with balance and walking leading to considerable disability. There is increasing acceptance of gait analysis techniques to quantify subtle gait characteristics that are unmeasurable by current clinical methods This systematic review aims to identify the gait characteristics able to differentiate between Cerebellar Ataxia and healthy controls...
February 2018: Gait & Posture
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