Genomes and Genes
Summary: Diseases that affect the structure or function of the cerebellum. Cardinal manifestations of cerebellar dysfunction include dysmetria, GAIT ATAXIA, and MUSCLE HYPOTONIA.
Publications230 found, 100 shown here
- Reliability and validity of ICARS in focal cerebellar lesionsBeate Schoch
Department of Neurosurgery, University of Duisburg Essen, Essen, Germany
Mov Disord 22:2162-9. 2007To evaluate the therapies for cerebellar diseases appropriate neurological assessment methods to measure severity of ataxia are required...
- Recovery of upper limb function after cerebellar stroke: lesion symptom mapping and arm kinematicsJurgen Konczak
Human Sensorimotor Control Laboratory, University of Minnesota, Minneapolis, MN 55455, USA
Stroke 41:2191-200. 2010..This study provides a comprehensive assessment of how lesion site and arm dysfunction are associated in the acute stage and outlines the course of upper limb motor recovery for the first 4 months after the infarction...
- Cognitive and affective disturbances following focal cerebellar damage in adults: a neuropsychological and SPECT studyHanne Baillieux
Department of Linguistics, Vrije Universiteit Brussel, Belgium
Cortex 46:869-79. 2010....
- Vertebral artery dissection and cerebellar infarction following chiropractic manipulationW L Chen
Department of Emergency Medicine, Cathay General Hospital, Institute of Emergency and Critical Care Medicine, National Yang Ming University, Taipei, Taiwan, Republic of China
Emerg Med J 23:e1. 2006..A number of cases of VAD associated with chiropractic cervical manipulation have been reported, but rarely in the emergency medicine literature. We present a case of this rare occurrence, and discuss the diagnostic pitfalls...
- Cerebellar regions involved in adaptation to force field and visuomotor perturbationOpher Donchin
Dept of Biomedical Engineering, Ben Gurion Univ of the Negev, Be er Sheva 84105, Israel
J Neurophysiol 107:134-47. 2012..The posterolateral cerebellum may process common aspects of both tasks...
- Mapping of equine cerebellar abiotrophy to ECA2 and identification of a potential causative mutation affecting expression of MUTYHLeah S Brault
Veterinary Genetics Laboratory, School of Veterinary Medicine, University of California, Davis, Davis, CA 95616, USA
Genomics 97:121-9. 2011..This SNP may therefore have a function effect on TOE1, or a regulatory effect on MUTYH by negatively affecting the binding affinity of GATA2...
- Development and developmental disorders of the human cerebellumH J ten Donkelaar
321 Dept of Neurology, University Medical Centre Nijmegen, P O Box 9101, 6500 HB, Nijmegen, The Netherlands
J Neurol 250:1025-36. 2003..In this review the development of the cerebellum and some of its more frequent developmental disorders, such as the Dandy-Walker and related midline malformations, and the pontocerebellar hypoplasias, are discussed...
- Role of the cerebellum in eyeblink conditioningVlastislav Bracha
Department of Biomedical Sciences, Iowa State University College of Veterinary Medicine, Ames, IA 50011, USA
Prog Brain Res 143:331-9. 2004..There is also need for the development of new experimental approaches to associative learning in both the nonhuman primate and the human...
- Crossed cerebellar diaschisis in acute stroke detected by dynamic susceptibility contrast MR perfusion imagingD D M Lin
Russell H Morgan Department of Radiology and Radiological Science, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA
AJNR Am J Neuroradiol 30:710-5. 2009....
- Evaluation of multiple-session delay eyeblink conditioning comparing patients with focal cerebellar lesions and cerebellar degenerationMarcus Gerwig
Department of Neurology, University of Duisburg Essen, Hufelandstrasse 55, D 45147 Essen, Germany
Behav Brain Res 212:143-51. 2010..Intact anterior lobe, which it thought to contribute to CR timing, may explain recovery of disordered timing in focal cerebellar patients...
- Timing of conditioned eyeblink responses is impaired in cerebellar patientsMarcus Gerwig
Department of Neurology, University of Duisburg Essen, D 45147 Essen, Germany
J Neurosci 25:3919-31. 2005..Extracerebellar premotoneuronal disinhibition, however, is another possible explanation for changes in CR timing...
- Moving, sensing and learning with cerebellar damageAmy J Bastian
Kennedy Krieger Institute, Department of Neuroscience, The Johns Hopkins School of Medicine, United States
Curr Opin Neurobiol 21:596-601. 2011..This review covers these and other recent advances, focusing on how cerebellar damage affects human abilities ranging from sensory perception to movement control and motor learning...
- Cerebellar abiotrophy in a family of Border Collie dogsJ R Sandy
School of Veterinary Science, University of Melbourne, Australia
Vet Pathol 39:736-8. 2002..The biochemical basis for this form of cerebellar abiotrophy is unknown, but the lack of disease in other siblings supports an autosomal recessive mode of inheritance...
- Cerebellar white matter injury following systemic endotoxemia in preterm fetal sheepJ M Dean
Department of Physiology and Neuroscience, Perinatal Centre, Sahlgrenska Academy, Gothenburg University, Goteborg, Sweden
Neuroscience 160:606-15. 2009....
- Current advances in lesion-symptom mapping of the human cerebellumD Timmann
Department of Neurology, University of Duisburg Essen, Hufelandstrasse 55, 45138 Essen, Germany
Neuroscience 162:836-51. 2009..We conclude that meaningful correlations between lesion site and behavioral data can be obtained in patients with degenerative as well as focal cerebellar disorders...
- The human cerebellum and associative learning: dissociation between the acquisition, retention and extinction of conditioned eyeblinksV Bracha
Division of Neurobiology, Barrow Neurological Institute, 350 W Thomas Rd, Phoenix, AZ, USA
Brain Res 860:87-94. 2000..This finding suggests that in humans, the acquisition of new and the extinction of previously learned conditioned responses depends on a similar set of cerebellar circuits...
- Prism adaptation during walking generalizes to reaching and requires the cerebellumSusanne M Morton
Kennedy Krieger Institute Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA
J Neurophysiol 92:2497-509. 2004..In contrast, prism adaptation during isolated movements of the limbs is probably recalibrated by effector-specific mechanisms. The cerebellum is an essential component in the network for both types of prism adaptation...
- Evolutionarily assembled cis-regulatory module at a human ciliopathy locusJeong Ho Lee
Neurogenetics Laboratory, Howard Hughes Medical Institute HHMI, Department of Neurosciences, University of California, San Diego, CA, USA
Science 335:966-9. 2012..Hence, during vertebrate evolution of genes involved in ciliogenesis, nonparalogous genes were arranged to a functional gene cluster with shared regulatory elements...
- Neurodevelopmental outcomes in children with cerebellar malformations: a systematic reviewMarie Eve Bolduc
School of Physical and Occupational Therapy, McGill University, Montreal, Canada
Dev Med Child Neurol 51:256-67. 2009..In summary, rigorous outcome studies describing the spectrum of disabilities in survivors are urgently needed to accurately delineate the long-term neurodevelopmental consequences of cerebellar malformations...
- The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndromeMarion Delous
Institut National de la Santé et de la Recherche Médicale INSERM U 574, Hopital Necker Enfants Malades, 75015 Paris, France
Nat Genet 39:875-81. 2007..Our findings show that mutations in RPGRIP1L can cause the multiorgan phenotypic abnormalities found in CORS or MKS, which therefore represent a continuum of the same underlying disorder...
- Polymerase chain reaction (PCR) amplification of parvoviral DNA from the brains of dogs and cats with cerebellar hypoplasiaScott J Schatzberg
Department of Clinical Sciences, Cornell University Hospital for Animals, Cornell University, Ithaca, NY 14853 6401, USA
J Vet Intern Med 17:538-44. 2003..This study shows that parvoviral DNA can be amplified from feline and canine archival brain tissue and that cerebellar hypoplasia in dogs might be associated with in utero parvovirus infection...
- Cerebellar hemorrhage in the preterm infant: ultrasonographic findings and risk factorsCatherine Limperopoulos
Department of Neurology, Children s Hospital Boston, Harvard Medical School, Boston, Massachusetts, USA
Pediatrics 116:717-24. 2005..Information is limited, however, on the incidence, topography, and risk factors for CBH in the preterm infant...
- Subclinical cerebellar impairment in the common types of migraine: a three-dimensional analysis of reaching movementsP S Sandor
Neurology Department, University Hospitals of Zurich, Switzerland
Ann Neurol 49:668-72. 2001..These were more pronounced in migraine with than without aura. Whether this reflects involvement of Ca2+ channel genes in the common types of migraine needs to be investigated by genetic analyses...
- Lesion patterns and etiology of ischemia in superior cerebellar artery territory infarctsEmre Kumral
Stroke Unit, Department of Neurology, Faculty of Medicine, Ege University, Izmir, Turkey
Cerebrovasc Dis 19:283-90. 2005..Diffusion-weighted imaging (DWI) is superior to conventional magnetic resonance imaging for detecting acute small and multiple ischemic lesions...
- Normal cognitive functions in joubert syndromeA Poretti
Department of Pediatric Neurology, University Children s Hospital of Zurich, Switzerland
Neuropediatrics 40:287-90. 2009..Molecular investigations demonstrated a homozygous mutation in the INPP5E gene. This exceptional observation confirms that normal cognitive functions are possible in JS and corroborates the well known intrafamilial variability...
- Genotype-phenotype correlation in CC2D2A-related Joubert syndrome reveals an association with ventriculomegaly and seizuresRuxandra Bachmann-Gagescu
Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington 98195 6320, USA
J Med Genet 49:126-37. 2012..CC2D2A mutations are a relatively common cause of JS and also cause Meckel syndrome. The clinical consequences of CC2D2A mutations in patients with JS have been incompletely reported...
- Joubert syndrome and related disorders: spectrum of neuroimaging findings in 75 patientsA Poretti
Division of Pediatric Neurology, University Children s Hospital of Zurich, Switzerland
AJNR Am J Neuroradiol 32:1459-63. 2011..Neuroimaging differences in siblings represent intrafamilial heterogeneity. Due to the absence of a correlation with genotype, neuroimaging findings are of limited value in classifying patients with JSRD...
- Prenatal and neonatal MR imaging findings in oral-facial-digital syndrome type VIA Poretti
Department of Pediatric Neurology, University Children s Hospital of Zurich, Zurich, Switzerland
AJNR Am J Neuroradiol 29:1090-1. 2008..If the molar tooth sign and a hypothalamic hamartoma are present, prenatal diagnosis of OFDS VI is possible...
- Defective Wnt-dependent cerebellar midline fusion in a mouse model of Joubert syndromeMadeline A Lancaster
Laboratory for Neurogenetics, Howard Hughes Medical Institutes, Department of Pediatrics and Neurosciences, Institute for Genomic Medicine, University of California, San Diego, San Diego, California, USA
Nat Med 17:726-31. 2011..Our findings implicate a defect in Wnt signaling in the cerebellar midline phenotype seen in Joubert syndrome that can be overcome with Wnt stimulation...
- Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamicsClaudia Dafinger
Institute of Human Genetics, Department of Medicine and Centre for Molecular Medicine, University of Cologne, Cologne, Germany
J Clin Invest 121:2662-7. 2011..Thus, we suggest that modified microtubule stability and growth direction caused by loss of KIF7 function may be an underlying disease mechanism contributing to JBTS...
- Interpeduncular heterotopia in Joubert syndrome: a previously undescribed MR findingI Harting
Department of Neuroradiology, University of Heidelberg Medical School, Heidelberg, Germany
AJNR Am J Neuroradiol 32:1286-9. 2011..This new imaging feature enlarges the spectrum of brain stem abnormalities in JSRD. In view of the underlying ciliopathy, it seems likely that the interpeduncular heterotopia results from misdirected migration...
- The ciliopathies in neuronal development: a clinical approach to investigation of Joubert syndrome and Joubert syndrome-related disordersShifteh Sattar
Department of Neurosciences and Paediatrics, University of California, San Diego, La Jolla, CA, USA
Dev Med Child Neurol 53:793-8. 2011..Recognizing the diverse presentations of the ciliopathies and screening strategies following diagnosis is an important part of the treatment plan of children with cilia-related disorders...
- Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndromeHeleen H Arts
Department of Human Genetics, Radboud University Nijmegen Medical Centre and Nijmegen Centre for Molecular Life Sciences, 6500 HB Nijmegen, The Netherlands
Nat Genet 39:882-8. 2007..This work identifies RPGRIP1L as a gene responsible for JBTS and establishes a central role for cilia and basal bodies in the pathophysiology of this disorder...
- Ipsidirectional impairment of prism adaptation after unilateral lesion of anterior cerebellumL Pisella
Espace et Action, INSERM, Universite Claude Bernard Lyon I, Institut Federatif des Neurosciences de Lyon, Mouvement et Handicap, Lyon, France
Neurology 65:150-2. 2005..He adapted to rightward but not leftward prisms, independent of which hand was used during exposure. This suggests a role of anterior cerebellar cortex in the computation or compensation of ipsidirectional visual error...
- The molar tooth sign: a new Joubert syndrome and related cerebellar disorders classification system tested in Egyptian familiesM S Zaki
Clinical Genetics Department, National Research Centre, Neuromotor Institute, Cairo, Egypt
Neurology 70:556-65. 2008..Each family could be classified into one of the four subtypes. This classification may thus be useful in the evaluation of patients with JSRD...
- The ciliopathy-associated protein homologs RPGRIP1 and RPGRIP1L are linked to cilium integrity through interaction with Nek4 serine/threonine kinaseKarlien L M Coene
Department of Human Genetics 855, Radboud University Nijmegen Medical Centre, PO Box9101, 6500 HB Nijmegen, The Netherlands
Hum Mol Genet 20:3592-605. 2011..Our data are in line with previously established roles in the cilium of other members of the Nek protein family and define NEK4 as a ciliopathy candidate gene...
- Cerebellar cortical abiotrophy in Lagotto Romagnolo dogsT S Jokinen
Department of Clinical Veterinary Sciences, University of Helsinki, PO Box 57, 00014 Helsinki, Finland
J Small Anim Pract 48:470-3. 2007..The second case had degenerative changes in both Purkinje and granular cell layers. The clinical picture was similar in both cases presented, although the severity of the signs of cerebellar dysfunction varied...
- Role of MR imaging in prenatal diagnosis of pregnancies at risk for Joubert syndrome and related cerebellar disordersS N Saleem
Radiology Department, Kasr Al Ainy Hospital, Cairo University, Cairo, Egypt
AJNR Am J Neuroradiol 31:424-9. 2010..JSRD are rare autosomal recessive brain malformations. We hypothesized that MR imaging can assess fetuses at risk for JSRD and might influence their diagnoses...
- Psychopathology in patients with degenerative cerebellar diseases: a comparison to Huntington's diseaseIracema Leroi
Program in Cellular and Molecular Medicine, Department of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA
Am J Psychiatry 159:1306-14. 2002This study estimated the psychiatric morbidity of patients with degenerative cerebellar diseases.
- Oligophrenin 1 mutations frequently cause X-linked mental retardation with cerebellar hypoplasiaG Zanni
University of Paris 5 René Descartes, INSERM Unité 567, CNRS UMR8104, Paris, France
Neurology 65:1364-9. 2005....
- Intracerebellar hemorrhage in premature infants: sonographic detection and outcomeHanna Müller
Division of Neonatology, Department of Pediatrics, University of Heidelberg, Germany
J Perinat Med 35:67-70. 2007..Intracerebellar hemorrhage is a rarely confirmed diagnosis in preterm infants in comparison to peri-/intraventricular hemorrhage. This study evaluates the incidence of intracerebellar hemorrhage and neurological outcome in preterm infants...
- Trace eyeblink conditioning in human subjects with cerebellar lesionsM Gerwig
Department of Neurology, University of Duisburg Essen, Hufelandstrasse 55, 45147, Essen, Germany
Exp Brain Res 170:7-21. 2006....
- Ophthalmological findings in Joubert syndromeV Sturm
Department of Ophthalmology, University Hospital of Zurich, Zurich, Switzerland
Eye (Lond) 24:222-5. 2010..It has been associated with ocular and oculomotor abnormalities. The aim of our study was to extend the ophthalmic knowledge in JS and to add new findings...
- [Pulmonary nocardiasis with abscesses spreading to cerebrum, cerebellum and orbits]M Borchers
Medizinische Klinik des Evangelischen Krankenhauses Witten
Dtsch Med Wochenschr 131:1085-8. 2006..She was known to have chronic obstructive pulmonary disease treated with corticoids given systemically and by inhalation. She was a heavy smoker...
- Lack of Mid1, the mouse ortholog of the Opitz syndrome gene, causes abnormal development of the anterior cerebellar vermisAlessio Lancioni
Telethon Institute of Genetics and Medicine, Naples, Italy
J Neurosci 30:2880-7. 2010..This animal model provides a tool for additional in vivo studies of the physiological and pathological role of the Mid1 gene and a system to investigate the development and function of anterior cerebellar domains...
- Uteroplacental inflammation results in blood brain barrier breakdown, increased activated caspase 3 and lipid peroxidation in the late gestation ovine fetal cerebellumLisa C Hutton
Fetal and Neonatal Research Group, Department of Physiology, Monash University Clayton Campus, Melbourne, Australia
Dev Neurosci 29:341-54. 2007..These effects may account for some of the learning and motor deficits that emerge in neonates from pregnancies compromised by infection...
- Successful therapy combined with surgery for severe post-transplant nocardiosisS M Kayacan
Department of Internal Medicine, Istanbul School of Medicine, Turkey
J Nephrol 14:304-6. 2001..Co-trimoxazole was continued for six months then withdrawn. Graft dysfunction was not observed. Early medical and surgical interventions may be life-saving in this potentially lethal disease...
- Patients with chronic focal cerebellar lesions show no cognitive abnormalities in a bedside testStefanie Richter
Department of Neurology, University of Duisberg Essen, Essen, Germany
Neurocase 13:25-36. 2007..No obvious cognitive deficits appeared to be present in chronic cerebellar patients as assessed by a bedside screening test...
- Crossed cerebellar diaschisis: a positron emission tomography study with L-[methyl-11C]methionine and 2-deoxy-2-[18F]fluoro-D-glucoseKatsufumi Kajimoto
Department of Nuclear Medicine and Tracer Kinetics, Osaka University Graduate School of Medicine, Suita, Japan
Ann Nucl Med 21:109-13. 2007..We examined whether L-[methyl-11C]methionine (MET) uptake is affected in CCD...
- MR evaluation of crossed and uncrossed cerebral-cerebellar diaschisisA Chakravarty
Division of Neurology, Vivekananda Institute of Medical Sciences, Calcutta
Acta Neurol Scand 108:60-5. 2003..Functional neuroimaging studies in support of the concept of CCD and ICD have been critically reviewed in the light of the morphological changes demonstrated in the cases cited herein...
- A clinical study of 31 individuals with midline facial defects with hypertelorism and a guideline for follow-upVera Lucia Gil-da-Silva-Lopes
Departamento de Genética Médica, Faculdade de Ciencias Medicas, Universidade Estadual de Campinas, Campinas, SP, Brasil
Arq Neuropsiquiatr 65:396-401. 2007..Isolated FNM may have involvement of environmental components in some cases; the possibility of a syndromic picture should be extensive investigated. Follow-up of such patients must include the examinations herein performed...
- Acute cerebellitis presenting as tumor. Report of two casesNelly Amador
Departments of Neurological Surgery, Mayo Clinic College of Medicine, Rochester, Minnesota 55905, USA
J Neurosurg 107:57-61. 2007..The literature is reviewed and therapy considerations are emphasized...
- Hypomyelination with atrophy of the basal ganglia and cerebellum: follow-up and pathologyM S van der Knaap
Department of Child Neurology, VU University Medical Center, Amsterdam, The Netherlands
Neurology 69:166-71. 2007..Only a few patients have been described. We report on 11 additional patients and new MRI findings and provide histopathologic confirmation of the MRI interpretation...
- Cerebellar skew deviation and the torsional vestibuloocular reflexAgnes M F Wong
Division of Neurology, Department of Ophthalmology and Vision Science, University Health Network, University of Toronto, Ontario, Canada
Neurology 65:412-9. 2005....
- Predominant dystonia with marked cerebellar atrophy: a rare phenotype in familial dystoniaJ Hagenah
Neurology 68:2157; author reply 2157-8. 2007
- Diffuse craniospinal choroid plexus papilloma with involvement of both cerebellopontine anglesF Doglietto
Institute of Neurosurgery, Catholic University School of Medicine, 00168 Rome, Italy
Neurology 65:842. 2005
- Structural and functional MRIs disclose cerebellar pathologies in idiopathic downbeat nystagmusK Hufner
Department of Neurology, Klinikum Grosshadern, Neurologisches Forschungshaus, Munich, Germany
Neurology 69:1128-35. 2007..Forty percent of patients with DBN are classified as having idiopathic DBN, because no underlying pathology can be demonstrated by conventional MRI or laboratory tests...
- Saccades in children with spina bifida and Chiari type II malformationM S Salman
Division of Neurology, Hospital for Sick Children, Ontario, Canada
Neurology 64:2098-101. 2005..Saccades are essential for optimal visual function. Chiari type II malformation (CII) is a congenital anomaly of the cerebellum and brainstem, associated with spina bifida...
- Dissociation between canal- and otolithfunction in cerebellar atrophySarah Marti
J Neurol 255:769-71. 2008
- Cerebellar T2 hyperintensities in a patient with tremorMenachem Sadeh
Department of Neurology, Wolfson Medical Center, Holon, Israel
Neurology 70:578. 2008
- Postpartum cerebellar infarction and haemolysis, elevated liver enzymes, low platelet (HELLP) syndromeC Altamura
Clinica Neurologica, Universita Campus BioMedico, Rome, Italy
Neurol Sci 26:40-2. 2005..This case report gives evidence of the importance of considering the different risk factors involved in stroke occurrence during pregnancy...
- Trace eyeblink conditioning in patients with cerebellar degeneration: comparison of short and long trace intervalsM Gerwig
Department of Neurology, University of Duisburg Essen, Hufelandstrasse 55, 45147 Essen, Germany
Exp Brain Res 187:85-96. 2008..Using a long trace interval, the cerebellum appears to be less important...
- Radiologically atypical congenital posterior fossa dermoid cyst presenting late in lifeDavid Wallace
Department of Neurosurgery, Royal Melbourne Hospital, Parkville, Victoria, Australia
J Clin Neurosci 15:835-8. 2008..Pathological study revealed a dermoid cyst. Post-operatively, her hydrocephalus persisted and a ventriculo-atrial shunt was inserted with excellent functional recovery...
- Cerebellar vascular hamartoma in a British Shorthair catCatherine E Stalin
Department of Veterinary Medicine, Cambridge University, Madingley Road, Cambridge CB3 0ES, United Kingdom
J Feline Med Surg 10:206-11. 2008..A lesion of this type represents a previously unreported differential diagnosis for central nervous system lesions in young cats...
- [Thunderclap headache caused by cerebellar infarction]G Gossrau
Universitätsschmerzzentrum, Universitätsklinikum der TU Dresden, Fetscherstr 74, 01309, Dresden, Deutschland
Schmerz 22:82-6. 2008....
- The role of posterior fossa decompression in acute cerebellitisS de Ribaupierre
Departement de Neurochirurgie, CHUV, Lausanne, Switzerland
Childs Nerv Syst 21:970-4. 2005..We present two cases of children who were diagnosed with cerebellitis with acute cerebellar swelling. This rare pathology is potentially fatal, and no clear treatment guidelines are described in the literature...
- Early pathological changes in the cerebellum of patients with pure cerebellar syndrome demonstrated by diffusion-tensor imagingBora Yoon
Department of Neurology, Catholic University of Korea College of Medicine, Hangnam St Mary s Hospital, 505 Banpo Dong, Seocho Gu, Seoul 137 701, Korea
Eur Neurol 56:166-71. 2006..Therefore, DTI may be superior to conventional MRI in the evaluation of early pathological changes in patients with sporadic cerebellar ataxia...
- X-linked oligophrenic vermian dysgenesis: syndromic vs non-syndromic X-linked mental retardation?Joseph J Higgins
Neurology 65:1346-7. 2005
- Anterior and posterior inferior cerebellar artery infarction with sudden deafness and vertigoTakenobu Murakami
Department of Neurology, Tottori Prefectural Central Hospital, Tottori, Japan Department of Neurology, Institute of Neurological Sciences, Faculty of Medicine, Tottori University, Nishimachi 36 1, Yonago 683 8504, Japan
J Clin Neurosci 13:1051-4. 2006..Neuroimaging, including magnetic resonance imaging, is strongly recommended for patients with sudden deafness and vertigo to exclude infarction of the vertebral-basilar artery territory...
- Predominant dystonia with marked cerebellar atrophy: a rare phenotype in familial dystoniaI Le Ber
INSERM U679, Département de génétique, cytogénétique et embryologie, France
Neurology 67:1769-73. 2006..Dystonia syndromes constitute a heterogeneous group of phenotypes that may be caused by different heredodegenerative, metabolic, or genetic diseases...
- [Cerebellar infarction: analysis of 151 patients]Jefferson Rosi
Hospital Sao Joaquim, Real e Benemérita Associação Portuguesa de Beneficência, Sao Paulo, Brazil
Arq Neuropsiquiatr 64:456-60. 2006..Magnetic resonance image was the best diagnostic form for cerebellar lesions, however computerized tomography could show cerebellar infarction in 68 patients (78%)...
- [Cerebellar abscess--unusual reason for ataxia in an alcoholic patient]Lausanne P Carron
Service de Medecine Interne, Departement de Medecine, CHUV, Lausanne
Praxis (Bern 1994) 95:1085-9. 2006..We describe here a differential diagnosis of an acute ataxia as well as the cerebral abscess mechanisms and causes...
- Cerebellar involvement in midline facial defects with ocular hypertelorismSilvyo David Araújo Giffoni
Departamento de Genética Médica, Faculdade de Ciencias Medicas, Universidade Estadual de Campinas UNICAMP, Campinas SP, Brazil
Cleft Palate Craniofac J 43:466-70. 2006..Twenty-four patients were evaluated to better characterize neurological and neuroradiological aspects of midline facial defects with ocular hypertelorism...
- [Atypical monoclonal plasma cell hyperplasia. Infiltration of ZNS]A Viehover
Abteilung Neurologie, Neurologische Klinik, Universitatsklinikum Heidelberg, Im Neuenheimer Feld 400, 69120 Heidelberg, Germany
Nervenarzt 77:1495-500. 2006..We report on an atypical monoclonal plasma cell hyperplasia with bilateral occipital and cerebellar involvement in a 38-year-old woman. The diagnosis was confirmed by brain biopsy immunohistochemical and molecular tests...
- Measuring brain stem and cerebellar damage in parkinsonian syndromes using diffusion tensor MRIC R V Blain
King s College London, Institute of Psychiatry, MRC Centre for Neurodegeneration, Department of Clinical Neuroscience, London, UK
Neurology 67:2199-205. 2006....
- Deep brain reversible encephalopathy: association with secondary antiphospholipid antibody syndromeT Parikh
Department of Radiology, Albert Einstein College of Medicine, Montefiore Medical Center, Bronx, NY 10467, USA
AJNR Am J Neuroradiol 28:76-8. 2007..The patient presented with acute right cerebellar infarction and clinical and imaging evidence of brain stem and bilateral thalamic encephalopathy that resolved completely...
- Anterior inferior cerebellar artery infarction presenting with sudden hearing loss and vertigoEun Jin Son
Department of Otorhinolaryngology, National Medical Center, Seoul, Korea
Laryngoscope 117:556-8. 2007..AICA infarction may present without obvious neurologic deficits, and an imaging study is advised in patients at high risk for vascular accidents...
- Upside down reversal of vision due to an isolated acute cerebellar ischemic infarctionA Horga Hernández
J Neurol 253:953-4. 2006
- Crossed cerebellar atrophy of prenatal onsetF Gallini
Department of Pediatrics, Neonatal Unit, Catholic University, Largo F Vito 1, Rome 00136, Italy
Childs Nerv Syst 22:734-6. 2006..It was also reported in preterm infants after perinatal or postnatal contralateral supratentorial lesions...
- Diagnostic approach to cerebellar disease in childrenStefano D'Arrigo
Department of Pediatric Neurology, Istituto Neurologico C Besta, Milan, Italy
J Child Neurol 20:859-66. 2005..Subsequent investigations should be suggested by the neuroradiologic and clinical peculiarities of each case...
- Cerebellar infarction in the territory of the medial branch of the superior cerebellar arterySung Il Sohn
Department of Neurology, Keimyung University School of Medicine, Daegu, South Korea
Neurology 66:115-7. 2006..Cerebellar dysarthria was found in 8 patients. Eight patients had a mild unilateral limb ataxia. These findings emphasize that MSCA territory cerebellar infarction presented with the prominent gait ataxia and cerebellar dysarthria...
- Impaired working-memory after cerebellar infarcts paralleled by changes in BOLD signal of a cortico-cerebellar circuitB Ziemus
Department of Neurology, University of Regensburg, Germany
Neuropsychologia 45:2016-24. 2007..We conclude that cerebellar lesions affect remote cortical regions that are part of a putative cortico-cerebellar network...
- Brain stem and cerebellar findings in Joubert syndromeIbrahim A Alorainy
Department of Radiology and Medical Imaging, King Khalid University Hospital, King Saud University, Riyadh, Saudi Arabia
J Comput Assist Tomogr 30:116-21. 2006..Awareness of the clinical and neuroimaging findings in Joubert syndrome and maintenance of a high index of suspicion are essential to correctly diagnose this rare congenital malformation...
- Eye movement abnormalities in stiff person syndromeJohn R Economides
Beckman Vision Center, University of California, San Francisco, CA 94143 0730, USA
Neurology 65:1462-4. 2005..There was no evidence of ocular myasthenia, indicating that abnormalities of ocular motor function can occur as a primary manifestation of SPS, perhaps from depletion of GABA...
- Vertebral artery origin thrombus in a patient with cerebellar infarctD Eric Searls
Cerebrovascular Division, Department of Neurology, Palmer 127, Beth Israel Deaconess Medical Center, 330 Brookline Ave, Brookline, MA 02215, USA
Arch Neurol 65:1386-7. 2008
- Crossed cerebral - cerebellar diaschisis: MRI evaluationA Chakravarty
Department of Neurology, Vivekananda Institute of Medical Sciences, Calcutta, India
Neurol India 50:322-5. 2002..These observations provide morphological evidence of the phenomenon of crossed cerebral-cerebellar diaschisis (CCD). Functional neuroimaging studies in support of the concept of CCD has been critically reviewed...
- [Vacuolar leucoencephalopathy induced by heroin: 4 cases]S Koussa
Service de Neurologie, Hospital Hotel Dieu de France, Faculte de Medicine, Beyrouth, Liban
Rev Neurol (Paris) 158:177-82. 2002..The pathophysiology is unknown and seems different from post-anoxic leucoencephalopathy. The disease is usually progressive leading sometimes to death, but some cases show slow recovery...
- MRI findings in acute cerebellitisY De Bruecker
Department of Radiology, University Hospitals Gasthuisberg, Herestraat 49, 3000 Leuven, Belgium
Eur Radiol 14:1478-83. 2004..In atypical clinical presentation, MR imaging can lead to the diagnosis. MR imaging findings have, however, no prognostic value...
- Crossed cerebellar atrophy in patients with precocious destructive brain insultsRicardo A Teixeira
Department of Neurology, FCM UNICAMP, Campinas, CEP 13083 970, SP, Brazil
Arch Neurol 59:843-7. 2002..To analyze the frequency and pathogenetic factors of crossed cerebellar atrophy (CCA) in adult patients with epilepsy secondary to destructive brain insults of early development...
- Bilateral haemorrhagic cerebellar infarction following honey bee stingR Bhat
Department of Medicine, Kasturba Medical College, Manipal, Karnataka
J Assoc Physicians India 50:721-2. 2002
- Giant cerebellar tuberculoma mimicking a malignant tumourS I Poonnoose
Department of Neurological Sciences, Christian Medical College and Hospital, 632004 Vellore, India
Neuroradiology 46:136-9. 2004..We highlight the need to integrate different imaging modalities in arriving at a diagnosis of an intracranial mass and discuss atypical features of intracranial tuberculomas...
- Cerebellar symptoms heralding bilirubin encephalopathy in Crigler-Najjar syndromeBrahim Tabarki
Service de Pediatrie, Hôpital Farhat Hached, Sousse, Tunisia
Pediatr Neurol 27:234-6. 2002..The patient improved slowly with the duration of phototherapy. Cerebellar symptoms can be the initial manifestation of kernicterus in children with Crigler-Najjar syndrome type I...
- [The megadolichobasilar artery--a clinical chameleon]R Dziewas
Klinik und Poliklinik fur Neurologie, Universitatsklinikum Munster
Nervenarzt 74:172-4. 2003..The article reviews the great variety of clinical symptoms caused by megadolichobasilar artery and discusses important therapeutic options...
- Quantification of brain damage in cerebrotendinous xanthomatosis with magnetization transfer MR imagingMatilde Inglese
Neuroimaging Research Unit, Department of Neuroscience, Milan, Italy
AJNR Am J Neuroradiol 24:495-500. 2003....
- The mechanisms of recovery from cerebellar infarction: an fMRI studyKeiko Kinomoto
Department of Speech Physiology, Graduate School of Medicine, University of Tokyo, 7 3 1 Hongo, Bunkyo ku, Tokyo 113 0033, Japan
Neuroreport 14:1671-5. 2003....
- Vertigo secondary to isolated PICA insufficiency: successful treatment with balloon angioplastyRobert A Koenigsberg
Department of Radiologic Sciences, Drexel University College of Medicine, Philadelphia, Pennsylvania 19106, USA
Surg Neurol 60:306-10. 2003..We report a case where a nondominant isolated vertebral artery, which terminated in PICA, was stenotic. This resulted in brainstem-lower cerebellar ischemia, corrected with balloon angioplasty...
- Cerebellitis in an adult with abnormal magnetic resonance imaging findings prior to the onset of ataxiaKirsten L Gruis
Department of Neurology and Radiology, University of Michigan, Ann Arbor 48109, USA
Arch Neurol 60:877-80. 2003..This has resulted in the use of other imaging modalities, such as single-photon emission computed tomography, to aid diagnosis...
- Distal myopathy with rimmed vacuoles and cerebellar atrophyHajnalka Merkli
Department of Neurology, Faculty of Medicine, University of Pecs, Pecs, H 7623, Hungary
Pathol Oncol Res 12:115-7. 2006..Muscle biopsy resulted in myopathic changes with rimmed vacuoles. Brain MRI scan showed cerebellar atrophy. This case demonstrates a rare association of distal myopathy and cerebellar atrophy...
- Bilateral anterior inferior cerebellar artery territory brachium pontis infarcts of probable hemodynamic causeRoger Kalla
Department of Neurology, Ludwig Maximilian University, Klinikum Grosshadern, Munich, Germany
Eur Neurol 51:233-5. 2004
- Pure post-stroke cerebellar cognitive affective syndrome: a case reportK S Paulus
Institute of Clinical Neurology, University of Sassari, Viale San Pietro 10, I 07100, Sassari, Italy
Neurol Sci 25:220-4. 2004..Auditory event-related potentials showed abnormal P300. These data suggest a pure "cerebellar cognitive affective syndrome"and strengthen the hypothesis of cerebellar cognitive function modulation...
- [Lhermitte-Duclos disease in a ten-year-old child: clinical follow-up and neuroimaging data from birth]A Verdu
Unidad de Neuropediatria, Hospital Virgen de la Salud, Toledo
Rev Neurol 27:597-600. 1998..Lhermitte-Duclos disease is a rare lesion characterized by enlarged cerebellar folia containing abnormal ganglion cells. It typically affects young adults, and reports in the pediatric age are exceptional...
- Cognitive Effects of Cerebellar Lesions in HumansJEREMY SCHMAHMANN; Fiscal Year: 2006..This study has implications for the recognition and treatment of disorders of higher order function in cerebellar patients. [unreadable] [unreadable]..
- Principles of Therapy in Cerebellar Disease: Explorations in Ion Channel MutantsJOHN SAMUEL STAHL; Fiscal Year: 2013....
- Regulation of Ptf1a in the Developing Nervous SystemDavid M Meredith; Fiscal Year: 2010..Furthermore, the advancement in our understanding of how spinal neurons are formed should accelerate the progress in treating spinal cord trauma. ..
- Calcium-activated potassium currents in cerebellar Purkinje neuronsMARK DANIEL BENTON; Fiscal Year: 2011..Our goal is to understand how the electrical activity in Purkinje neurons is regulated, which promises to provide insight into therapeutic treatments for cerebellar disorders.) ..
- Mechanisms Underlying the Cerebellar Contribution to Autism in Mouse Models of TuPeter T Tsai; Fiscal Year: 2013..This mentored award will provide Dr. Tsai a structured, productive training experience that will bolster his transition to becoming an independent physician-scientist. ..
- CELLULAR ANALYSIS OF THE VESTIBULO-OCULAR REFLEXSascha du Lac; Fiscal Year: 2013....
- Functional Domain of the Cerebellum in Motor LearningRichard Ivry; Fiscal Year: 2012..The results should be of clinical relevance, allowing therapists to design rehabilitation programs that are tailored to either target or minimize impaired functional capabilities. ..
- Disorders of Emotional Communication in Patient with Cerebellar DysfunctionKenneth M Heilman; Fiscal Year: 2013..abstract_text> ..
- SIGNAL ANALYSIS OF CEREBELLAR CORTICAL NEURONSPETER VAN KAN; Fiscal Year: 1990..basic information concerning the control mechanisms of the cerebellum is needed to obtain insights into cerebellar diseases that lead to dysmetria, a movement disorder characterized by the inability to produce goal directed ..
- Genetic Analysis of Roof Plate Function in the CNSKathleen Millen; Fiscal Year: 2008....
- Patient-Oriented Research in Recessive Pediatric Brain DiseasesJoseph Gleeson; Fiscal Year: 2008....
- INTERMEDIATE CEREBELLUM IN ADAPTIVE REFLEX CONTROLVlastislav Bracha; Fiscal Year: 2010....
- Varenicline and Smoking Cessation in SchizophreniaSEYYED HOSSEIN FATEMI; Fiscal Year: 2010..Such outcomes will be significant, because they will offer a new treatment for smoking cessation in this vulnerable population. ..
- Prenatal Virally Induced Brain Disorder in MouseSEYYED FATEMI; Fiscal Year: 2009..In addition, it is expected that the results will provide clues that will lead to fundamental advances in our knowledge of the pathogenesis of schizophrenia and, therefore, of how it can be prevented and treated. ..
- Vestibulocerebellar function in channelopathy mutantsJohn Stahl; Fiscal Year: 2004..Thus, the insights into normal cerebellar function generated by this study should also advance our understanding of mechanisms of heritable neurological disease. ..
- FUNCTIONAL STUDIES OF TOPOISOMERASE IEric Rubin; Fiscal Year: 2002..Collectively, these studies should provide information valuable not only for understanding the cellular role of topoisomerase I but also for elucidating the cytotoxic mechanisms of camptothecin. ..
- Functional studies of the top 1-binding protein toporsEric Rubin; Fiscal Year: 2006..The proposed experiments should significantly increase current knowledge regarding the function of topors and may lead to new strategies in the prevention and treatment of cancer [unreadable] [unreadable]..
- Conference on the Diagnosis of Multiple System AtrophySid Gilman; Fiscal Year: 2006..This conference will assist with early diagnosis by developing new guidelines for diagnosis using newly available imaging and neuropathological criteria. [unreadable] [unreadable] [unreadable]..
- NEURONAL INTEGRATION IN CEREBELLAR SYSTEMSVlastislav Bracha; Fiscal Year: 2004....
- INTELLIGIBILITY ASSESSMENT IN DYSARTHRIARaymond Kent; Fiscal Year: 2005..The data on dysarthria will be integrated with data on speech development and normal adult speech in a neural network model of speech production that is based on internal models of auditory and articulatory representations of speech. ..
- Molecular Mechanisms of Neuronal MigrationJoseph Gleeson; Fiscal Year: 2006..2) DCX and LIS1 function to regulate nuclear movement during neuronal migration. 3) DCX is regulated by cdk5 during neuronal migration. ..
- Advances in Midbrain/Hindbrain MalformationsJoseph Gleeson; Fiscal Year: 2005..The information content will be made available on the Internet. Thus this Meeting will serve as a resource for both the scientific and lay community throughout the world. ..
- Perceptual and Decisional Processes in CategorizationW Maddox; Fiscal Year: 2006..Project 4 extends the studies in Project I - 3 to an explicit decision criterion task where observers adjust an observable decision criterion on each trial. These data are useful for testing learning models. ..
- Molecular Foundations of the Myoclonus-Dystonia SyndromeMark leDoux; Fiscal Year: 2006..We hypothesize that epsilon sarcoglycan co-localizes with GABA receptors opposite GABAergic terminals in the central nervous system. ..
- Zic3 and the Control of Body Pattern FormationSTEPHANIE WARE; Fiscal Year: 2005..Through a combination of supervised research, scientific interchange, and selected coursework within this environment, the candidate will obtain the training necessary to transition to an independent investigator. ..
- Mutant Gene Identification in the Dystonic RatMark leDoux; Fiscal Year: 2008..Patients with dystonia will be screened for mutations in the human homologue. These proposed studies will likely increase our understanding of both dystonia and olivocerebellar motor systems. ..
- EYELID SENSORIMOTOR NETWORKSMark leDoux; Fiscal Year: 2003..abstract_text> ..
- Semantic Memory and MRI Volumetrics in EpilepsyBrian Bell; Fiscal Year: 2005..abstract_text> ..
- TETRAHYDROISOQUINOLINES AND PARKINSON'S DISEASEMark leDoux; Fiscal Year: 2006..Evolution may have not provided neurons with mechanisms to prevent accumulation of these by-products of normal metabolism and, as a consequence, susceptible neuronal populations may slowly undergo apoptotic death in the elderly. ..
- Mouse models of human cerebellar malformationsKathleen Millen; Fiscal Year: 2008..This information is critical to the identification of additional malformation loci. ..
- MOLECULAR PATHOGENESIS OF FELINE SPINAL MUSCULAR ATROPHYJOHN FYFE; Fiscal Year: 2002..Initial candidate genes will be those implicated in human SMA, but otherwise a comparative positional-candidate gene approach will be taken. ..
- Molecular Mechanism of Polarized Cubilin ExpressionJOHN FYFE; Fiscal Year: 2004..Results of these efforts are expected to open a window onto a new aspect of nutrient absorption and membrane receptor biology. ..
- Outcomes of Perinatal StrokeMeredith Golomb; Fiscal Year: 2008..During the last year of the study, she plans to apply for an R01 grant to set up a pilot clinical trial. [unreadable] [unreadable]..