cerebellar diseases

Summary

Summary: Diseases that affect the structure or function of the cerebellum. Cardinal manifestations of cerebellar dysfunction include dysmetria, GAIT ATAXIA, and MUSCLE HYPOTONIA.

Top Publications

  1. Poretti A, Dietrich Alber F, Brancati F, Dallapiccola B, Valente E, Boltshauser E. Normal cognitive functions in joubert syndrome. Neuropediatrics. 2009;40:287-90 pubmed publisher
    ..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...
  2. Lancioni A, Pizzo M, Fontanella B, Ferrentino R, Napolitano L, De Leonibus E, et al. Lack of Mid1, the mouse ortholog of the Opitz syndrome gene, causes abnormal development of the anterior cerebellar vermis. J Neurosci. 2010;30:2880-7 pubmed publisher
    ..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...
  3. Sattar S, Gleeson J. The ciliopathies in neuronal development: a clinical approach to investigation of Joubert syndrome and Joubert syndrome-related disorders. Dev Med Child Neurol. 2011;53:793-798 pubmed publisher
    ..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. ..
  4. Konczak J, Pierscianek D, Hirsiger S, Bultmann U, Schoch B, Gizewski E, et al. Recovery of upper limb function after cerebellar stroke: lesion symptom mapping and arm kinematics. Stroke. 2010;41:2191-200 pubmed publisher
    ..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...
  5. Bachmann Gagescu R, Ishak G, Dempsey J, Adkins J, O Day D, Phelps I, et al. Genotype-phenotype correlation in CC2D2A-related Joubert syndrome reveals an association with ventriculomegaly and seizures. J Med Genet. 2012;49:126-37 pubmed publisher
    ..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...
  6. Garcia Gonzalo F, Corbit K, Sirerol Piquer M, Ramaswami G, Otto E, Noriega T, et al. A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition. Nat Genet. 2011;43:776-84 pubmed publisher
    ..Thus, a transition zone complex of Meckel and Joubert syndrome proteins regulates ciliary assembly and trafficking, suggesting that transition zone dysfunction is the cause of these ciliopathies. ..
  7. Lancaster M, Gopal D, Kim J, Saleem S, Silhavy J, Louie C, et al. Defective Wnt-dependent cerebellar midline fusion in a mouse model of Joubert syndrome. Nat Med. 2011;17:726-31 pubmed publisher
    ..Our findings implicate a defect in Wnt signaling in the cerebellar midline phenotype seen in Joubert syndrome that can be overcome with Wnt stimulation...
  8. Bastian A. Moving, sensing and learning with cerebellar damage. Curr Opin Neurobiol. 2011;21:596-601 pubmed publisher
    ..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...
  9. Harting I, Kotzaeridou U, Poretti A, Seitz A, Pietz J, Bendszus M, et al. Interpeduncular heterotopia in Joubert syndrome: a previously undescribed MR finding. AJNR Am J Neuroradiol. 2011;32:1286-9 pubmed publisher
    ..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...

More Information

Publications62

  1. Poretti A, Huisman T, Scheer I, Boltshauser E. Joubert syndrome and related disorders: spectrum of neuroimaging findings in 75 patients. AJNR Am J Neuroradiol. 2011;32:1459-63 pubmed publisher
    ..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...
  2. Coene K, Mans D, Boldt K, Gloeckner C, van Reeuwijk J, Bolat E, et al. The ciliopathy-associated protein homologs RPGRIP1 and RPGRIP1L are linked to cilium integrity through interaction with Nek4 serine/threonine kinase. Hum Mol Genet. 2011;20:3592-605 pubmed publisher
    ..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...
  3. Brault L, Cooper C, Famula T, Murray J, Penedo M. Mapping of equine cerebellar abiotrophy to ECA2 and identification of a potential causative mutation affecting expression of MUTYH. Genomics. 2011;97:121-9 pubmed publisher
    ..This SNP may therefore have a function effect on TOE1, or a regulatory effect on MUTYH by negatively affecting the binding affinity of GATA2...
  4. Donchin O, Rabe K, Diedrichsen J, Lally N, Schoch B, Gizewski E, et al. Cerebellar regions involved in adaptation to force field and visuomotor perturbation. J Neurophysiol. 2012;107:134-47 pubmed publisher
    ..The posterolateral cerebellum may process common aspects of both tasks...
  5. Huang L, Szymanska K, Jensen V, Janecke A, Innes A, Davis E, et al. TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone. Am J Hum Genet. 2011;89:713-30 pubmed publisher
    ..Collectively, our findings integrate TMEM237/JBTS-14 in a complex interaction network of TZ-associated proteins and reveal a growing contribution of a TZ functional module to the spectrum of ciliopathy phenotypes. ..
  6. Lee J, Silhavy J, Zaki M, Schroth J, Bielas S, Marsh S, et al. CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium. Nat Genet. 2012;44:193-9 pubmed publisher
    ..Our data identify CEP41 mutations as a cause of JBTS and implicate tubulin post-translational modification in the pathogenesis of human ciliary dysfunction...
  7. Dafinger C, Liebau M, Elsayed S, Hellenbroich Y, Boltshauser E, Korenke G, et al. Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics. J Clin Invest. 2011;121:2662-7 pubmed publisher
    ..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...
  8. Gerwig M, Guberina H, Esser A, Siebler M, Schoch B, Frings M, et al. Evaluation of multiple-session delay eyeblink conditioning comparing patients with focal cerebellar lesions and cerebellar degeneration. Behav Brain Res. 2010;212:143-51 pubmed publisher
    ..Intact anterior lobe, which it thought to contribute to CR timing, may explain recovery of disordered timing in focal cerebellar patients...
  9. Lee J, Silhavy J, Lee J, Al Gazali L, Thomas S, Davis E, et al. Evolutionarily assembled cis-regulatory module at a human ciliopathy locus. Science. 2012;335:966-9 pubmed publisher
    ..Hence, during vertebrate evolution of genes involved in ciliogenesis, nonparalogous genes were arranged to a functional gene cluster with shared regulatory elements. ..
  10. Timmann D, Konczak J, Ilg W, Donchin O, Hermsdorfer J, Gizewski E, et al. Current advances in lesion-symptom mapping of the human cerebellum. Neuroscience. 2009;162:836-51 pubmed publisher
    ..We conclude that meaningful correlations between lesion site and behavioral data can be obtained in patients with degenerative as well as focal cerebellar disorders...
  11. Limperopoulos C, Benson C, Bassan H, DiSalvo D, Kinnamon D, Moore M, et al. Cerebellar hemorrhage in the preterm infant: ultrasonographic findings and risk factors. Pediatrics. 2005;116:717-24 pubmed
    ..Information is limited, however, on the incidence, topography, and risk factors for CBH in the preterm infant...
  12. Gerwig M, Hajjar K, Dimitrova A, Maschke M, Kolb F, Frings M, et al. Timing of conditioned eyeblink responses is impaired in cerebellar patients. J Neurosci. 2005;25:3919-31 pubmed
    ..Extracerebellar premotoneuronal disinhibition, however, is another possible explanation for changes in CR timing...
  13. Zaki M, Abdel Aleem A, Abdel Salam G, Marsh S, Silhavy J, Barkovich A, et al. The molar tooth sign: a new Joubert syndrome and related cerebellar disorders classification system tested in Egyptian families. Neurology. 2008;70:556-65 pubmed publisher
    ..Each family could be classified into one of the four subtypes. This classification may thus be useful in the evaluation of patients with JSRD...
  14. Delous M, Baala L, Salomon R, Laclef C, Vierkotten J, Tory K, et al. The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome. Nat Genet. 2007;39:875-81 pubmed
    ..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...
  15. Edlow J, Newman Toker D, Savitz S. Diagnosis and initial management of cerebellar infarction. Lancet Neurol. 2008;7:951-64 pubmed publisher
    ..Here, we review the clinical presentation of cerebellar infarction, from diagnosis and misdiagnosis to patients' monitoring, treatment, and potential complications...
  16. Bolduc M, Limperopoulos C. Neurodevelopmental outcomes in children with cerebellar malformations: a systematic review. Dev Med Child Neurol. 2009;51:256-67 pubmed publisher
    ..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...
  17. Müller H, Beedgen B, Schenk J, Tröger J, Linderkamp O. Intracerebellar hemorrhage in premature infants: sonographic detection and outcome. J Perinat Med. 2007;35:67-70 pubmed
    ..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...
  18. Dean J, Farrag D, Zahkouk S, El Zawahry E, Hagberg H, Kjellmer I, et al. Cerebellar white matter injury following systemic endotoxemia in preterm fetal sheep. Neuroscience. 2009;160:606-15 pubmed publisher
  19. Borchers M, von der Mülbe B, Teikemeier F, Theegarten D. [Pulmonary nocardiasis with abscesses spreading to cerebrum, cerebellum and orbits]. Dtsch Med Wochenschr. 2006;131:1085-8 pubmed
    ..She was known to have chronic obstructive pulmonary disease treated with corticoids given systemically and by inhalation. She was a heavy smoker...
  20. Baillieux H, De Smet H, Dobbeleir A, Paquier P, De Deyn P, Mariën P. Cognitive and affective disturbances following focal cerebellar damage in adults: a neuropsychological and SPECT study. Cortex. 2010;46:869-79 pubmed publisher
  21. Kumral E, Kisabay A, Atac C. Lesion patterns and etiology of ischemia in superior cerebellar artery territory infarcts. Cerebrovasc Dis. 2005;19:283-90 pubmed
    ..Diffusion-weighted imaging (DWI) is superior to conventional magnetic resonance imaging for detecting acute small and multiple ischemic lesions...
  22. Zanni G, Saillour Y, Nagara M, Billuart P, Castelnau L, Moraine C, et al. Oligophrenin 1 mutations frequently cause X-linked mental retardation with cerebellar hypoplasia. Neurology. 2005;65:1364-9 pubmed
  23. Chen W, Chern C, Wu Y, Lee C. Vertebral artery dissection and cerebellar infarction following chiropractic manipulation. Emerg Med J. 2006;23:e1 pubmed
    ..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...
  24. Jokinen T, Rusbridge C, Steffen F, Viitmaa R, Syrja P, de Lahunta A, et al. Cerebellar cortical abiotrophy in Lagotto Romagnolo dogs. J Small Anim Pract. 2007;48:470-3 pubmed
    ..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...
  25. Sturm V, Leiba H, Menke M, Valente E, Poretti A, Landau K, et al. Ophthalmological findings in Joubert syndrome. Eye (Lond). 2010;24:222-5 pubmed publisher
    ..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...
  26. Arts H, Doherty D, van Beersum S, Parisi M, Letteboer S, Gorden N, et al. Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome. Nat Genet. 2007;39:882-8 pubmed
    ..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...
  27. Pisella L, Rossetti Y, Michel C, Rode G, Boisson D, Pelisson D, et al. Ipsidirectional impairment of prism adaptation after unilateral lesion of anterior cerebellum. Neurology. 2005;65:150-2 pubmed
    ..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...
  28. Schoch B, Regel J, Frings M, Gerwig M, Maschke M, Neuhauser M, et al. Reliability and validity of ICARS in focal cerebellar lesions. Mov Disord. 2007;22:2162-9 pubmed
    To evaluate the therapies for cerebellar diseases appropriate neurological assessment methods to measure severity of ataxia are required...
  29. Hutton L, Castillo Melendez M, Walker D. Uteroplacental inflammation results in blood brain barrier breakdown, increased activated caspase 3 and lipid peroxidation in the late gestation ovine fetal cerebellum. Dev Neurosci. 2007;29:341-54 pubmed
    ..These effects may account for some of the learning and motor deficits that emerge in neonates from pregnancies compromised by infection...
  30. Lin D, Kleinman J, Wityk R, Gottesman R, Hillis A, Lee A, et al. Crossed cerebellar diaschisis in acute stroke detected by dynamic susceptibility contrast MR perfusion imaging. AJNR Am J Neuroradiol. 2009;30:710-5 pubmed publisher
  31. Gerwig M, Haerter K, Hajjar K, Dimitrova A, Maschke M, Kolb F, et al. Trace eyeblink conditioning in human subjects with cerebellar lesions. Exp Brain Res. 2006;170:7-21 pubmed
  32. Kajimoto K, Oku N, Kimura Y, Kato H, Tanaka M, Kanai Y, et al. Crossed cerebellar diaschisis: a positron emission tomography study with L-[methyl-11C]methionine and 2-deoxy-2-[18F]fluoro-D-glucose. Ann Nucl Med. 2007;21:109-13 pubmed
    ..We examined whether L-[methyl-11C]methionine (MET) uptake is affected in CCD...
  33. Richter S, Aslan B, Gerwig M, Wilhelm H, Kramer S, Todica O, et al. Patients with chronic focal cerebellar lesions show no cognitive abnormalities in a bedside test. Neurocase. 2007;13:25-36 pubmed
    ..No obvious cognitive deficits appeared to be present in chronic cerebellar patients as assessed by a bedside screening test...
  34. Poretti A, Brehmer U, Scheer I, Bernet V, Boltshauser E. Prenatal and neonatal MR imaging findings in oral-facial-digital syndrome type VI. AJNR Am J Neuroradiol. 2008;29:1090-1 pubmed publisher
    ..If the molar tooth sign and a hypothalamic hamartoma are present, prenatal diagnosis of OFDS VI is possible...
  35. Morton S, Bastian A. Prism adaptation during walking generalizes to reaching and requires the cerebellum. J Neurophysiol. 2004;92:2497-509 pubmed
    ..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...
  36. Saleem S, Zaki M. Role of MR imaging in prenatal diagnosis of pregnancies at risk for Joubert syndrome and related cerebellar disorders. AJNR Am J Neuroradiol. 2010;31:424-9 pubmed publisher
    ..JSRD are rare autosomal recessive brain malformations. We hypothesized that MR imaging can assess fetuses at risk for JSRD and might influence their diagnoses...
  37. Califano L, Mazzone S, Salafia F. Utility of the hyperventilation test in the evaluation of the dizzy patient. Curr Opin Otolaryngol Head Neck Surg. 2013;21:487-91 pubmed publisher
  38. Doummar D, Mignot C, Apartis E, Villard L, Rodriguez D, Chantot Bastauraud S, et al. A Novel Homozygous TBC1D24 Mutation Causing Multifocal Myoclonus With Cerebellar Involvement. Mov Disord. 2015;30:1431-2 pubmed publisher
  39. Pastora N, Peralta J, Canal Fontcuberta I, Grabowska A, Pulido J, Abelairas J, et al. Microcephaly-lymphedema-chorioretinal dysplasia associated with pachymicrogyria and atrophy of the cerebellar vermis: an integration of brain-ocular migration disorders. Ophthalmic Genet. 2012;33:116-8 pubmed publisher
    ..Other ocular and brain anomalies rather than microcephaly and chorioretinal dysplasia have been inconstantly reported in this syndrome...
  40. Yang Y, Bi H, Long Z, Tao S. Evidence for cerebellar dysfunction in Chinese children with developmental dyslexia: an fMRI study. Int J Neurosci. 2013;123:300-10 pubmed publisher
  41. Park H, Kim H, Cha M, Lee J, Koh I, Nam H. A case of cerebellar infarction caused by acute subclavian thrombus following minor trauma. Yonsei Med J. 2013;54:1538-41 pubmed publisher
    ..After heparin infusion, thrombus size markedly decreased. Cerebellar infarction caused by acute subclavian thrombosis following minor trauma is rare, but the thrombus can be successfully resolved with anticoagulation. ..
  42. Garosi L, Dawson A, Couturier J, Matiasek L, De Stefani A, Davies E, et al. Necrotizing cerebellitis and cerebellar atrophy caused by Neospora caninum infection: magnetic resonance imaging and clinicopathologic findings in seven dogs. J Vet Intern Med. 2010;24:571-8 pubmed publisher
    ..Adult dogs with neosporosis can develop a variety of neurologic signs. No area of predilection within the nervous system so far has been identified in adult dogs...
  43. Tedesco A, Chiricozzi F, Clausi S, Lupo M, Molinari M, Leggio M. The cerebellar cognitive profile. Brain. 2011;134:3672-86 pubmed publisher
    ..Of the various cognitive domains, the ability to sequence was the most adversely affected in nearly all subjects, supporting the hypothesis that sequencing is a basic cerebellar operation...
  44. Ahmad S, Garcia F, Sataloff R. Cerebellopontine angle ganglionic hamartoma: case report. Ear Nose Throat J. 2010;89:128-31 pubmed
    ..The lesion was excised, and pathology confirmed a diagnosis of left-sided CPA ganglionic hamartoma. Otolaryngologists should be familiar with this uncommon tumor and include it in the differential diagnosis of CPA lesions...
  45. Poilblanc M, Sentilhes L, Mercier P, Lefebvre C, Descamps P. Uterine perforation by a cystoperitoneal shunt, an unusual cause of recurrent vaginal discharge. J Obstet Gynaecol Can. 2012;34:63-65 pubmed publisher
    ..We describe the first reported case of uterine perforation by a cystoperitoneal shunt. The mechanism of this unusual complication is unclear...
  46. Wang X, Imura T, Sofroniew M, Fushiki S. Loss of adenomatous polyposis coli in Bergmann glia disrupts their unique architecture and leads to cell nonautonomous neurodegeneration of cerebellar Purkinje neurons. Glia. 2011;59:857-68 pubmed publisher
  47. Chung S, Calafiore M, Plane J, Pleasure D, Deng W. Apoptosis inducing factor deficiency causes reduced mitofusion 1 expression and patterned Purkinje cell degeneration. Neurobiol Dis. 2011;41:445-57 pubmed publisher
    ..This study is the first to link AIF and mitochondrial fusion, both of which might play important roles in neurodegeneration...
  48. Schild A, Fricke J, Herkenrath P, Bolz H, Neugebauer A. [Neuro-ophthalmological and ophthalmological findings in Joubert syndrome]. Klin Monbl Augenheilkd. 2010;227:786-91 pubmed publisher
    ..The aim of our study was to examine the ophthalmological and neuro-ophthalmological features of JS in our patients and to compare our findings to those of other studies...
  49. Cerasa A, Valentino P, Chiriaco C, Pirritano D, Nisticò R, Gioia C, et al. MR imaging and cognitive correlates of relapsing-remitting multiple sclerosis patients with cerebellar symptoms. J Neurol. 2013;260:1358-66 pubmed publisher
    ..Our results demonstrated that RR-MS patients having cerebellar signs were characterized by a distinct neuroanatomical profile, mainly involving cortical regions underpinning executive functions and verbal fluency...
  50. Harris V, Diamanduros A, Good P, Zakin E, Chalivendra V, Sadiq S. Bri2-23 is a potential cerebrospinal fluid biomarker in multiple sclerosis. Neurobiol Dis. 2010;40:331-9 pubmed publisher
    ..CSF levels of Bri2-23 may serve as a biomarker of these functions in MS and merits further investigation...
  51. Barth P. Cerebellar dentate dysplasia. Brain Dev. 2011;33:621-6 pubmed publisher
    ..Origins include Joubert syndrome, other disorders of axon guidance and dentato-olivary dysplasia. An overview is given, linking the diverse etiologies...
  52. Ibebuike K, Mantanga L, Emereole O, Ndolo P, Kajee A, Gopal R, et al. Cerebellar toxoplasmosis in HIV/AIDS infant: case report and review of the literature. Neurol Sci. 2012;33:1423-8 pubmed
  53. Tani T, Sakai Y. Stuttering after right cerebellar infarction: a case study. J Fluency Disord. 2010;35:141-5 pubmed publisher
    ..The internal model related to cerebellar functions can be modified using feedback-error information. Results suggest that internal model dysfunction caused this patient's stuttering...