basal ganglia diseases

Summary

Summary: Diseases of the BASAL GANGLIA including the PUTAMEN; GLOBUS PALLIDUS; claustrum; AMYGDALA; and CAUDATE NUCLEUS. DYSKINESIAS (most notably involuntary movements and alterations of the rate of movement) represent the primary clinical manifestations of these disorders. Common etiologies include CEREBROVASCULAR DISORDERS; NEURODEGENERATIVE DISEASES; and CRANIOCEREBRAL TRAUMA.

Top Publications

  1. Yamada K, Miura K, Hara K, Suzuki M, Nakanishi K, Kumagai T, et al. A wide spectrum of clinical and brain MRI findings in patients with SLC19A3 mutations. BMC Med Genet. 2010;11:171 pubmed publisher
    ..Homozygous or compound heterozygous mutations in SLC19A3 cause two distinct clinical phenotypes, biotin-responsive basal ganglia disease and Wernicke's-like encephalopathy. Biotin and/or thiamin are effective therapies for both diseases...
  2. Miller D, Caroff S, Davis S, Rosenheck R, McEvoy J, Saltz B, et al. Extrapyramidal side-effects of antipsychotics in a randomised trial. Br J Psychiatry. 2008;193:279-88 pubmed publisher
    ..There are claims that second-generation antipsychotics produce fewer extrapyramidal side-effects (EPS) compared with first-generation drugs...
  3. Kobylecki C, Jakobsen K, Hansen T, Jakobsen I, Rasmussen H, Werge T. CYP2D6 genotype predicts antipsychotic side effects in schizophrenia inpatients: a retrospective matched case-control study. Neuropsychobiology. 2009;59:222-6 pubmed publisher
    ..The impaired metabolic capacity of the PM genotype results in higher steady-state plasma concentrations at a given dose, thus increasing the risk of toxic effects from medication...
  4. Tartaglia M, Sidhu M, Laluz V, Racine C, Rabinovici G, Creighton K, et al. Sporadic corticobasal syndrome due to FTLD-TDP. Acta Neuropathol. 2010;119:365-74 pubmed publisher
    ..These findings confirm that FTLD-TDP should be included in the pathological differential diagnosis for sporadic CBS...
  5. Mathew R, Bak T, Hodges J. Diagnostic criteria for corticobasal syndrome: a comparative study. J Neurol Neurosurg Psychiatry. 2012;83:405-10 pubmed publisher
    ..There are no well-established criteria for patients with corticobasal syndrome. The authors have attempted to clarify this area by comparing and applying three sets of well-known criteria (from Toronto, the Mayo Clinic and Cambridge)...
  6. Wang C, Li Y, Shi L, Ren J, Patti M, Wang T, et al. Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis. Nat Genet. 2012;44:254-6 pubmed publisher
    ..Our results implicate altered phosphate homeostasis in the etiology of IBGC...
  7. Nicolas G, Pottier C, Maltete D, Coutant S, Rovelet Lecrux A, Legallic S, et al. Mutation of the PDGFRB gene as a cause of idiopathic basal ganglia calcification. Neurology. 2013;80:181-7 pubmed publisher
    ..To identify a new idiopathic basal ganglia calcification (IBGC)-causing gene...
  8. Tsuchiya Y, Ubara Y, Anzai M, Hiramatsu R, Suwabe T, Hoshino J, et al. A case of idiopathic basal ganglia calcification associated with membranoproliferative glomerulonephritis. Intern Med. 2011;50:2351-6 pubmed
    ..This is the first report of IBGC with bilateral and symmetrical cerebral calcification accompanied by membranoproliferative glomerulonephritis resulting in end-stage renal failure...
  9. Ling H, O Sullivan S, Holton J, Revesz T, Massey L, Williams D, et al. Does corticobasal degeneration exist? A clinicopathological re-evaluation. Brain. 2010;133:2045-57 pubmed publisher
    ..Despite these diagnostic difficulties we conclude that corticobasal degeneration is a discrete clinicopathological entity but with a broader clinical spectrum than was originally proposed...

More Information

Publications62

  1. Hsu S, Sears R, Lemos R, Quintans B, Huang A, Spiteri E, et al. Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification. Neurogenetics. 2013;14:11-22 pubmed publisher
    ..Non-perfect segregation patterns of predicted deleterious variants highlight the challenges of phenotypic assessment in this condition with highly variable clinical presentation...
  2. Volpato C, De Grandi A, Buffone E, Facheris M, Gebert U, Schifferle G, et al. 2q37 as a susceptibility locus for idiopathic basal ganglia calcification (IBGC) in a large South Tyrolean family. J Mol Neurosci. 2009;39:346-53 pubmed publisher
    ..Electronic supplementary material. The online version of this article (doi:10.1007/s12031-009-9287-3) contains supplementary material, which is available to authorized users...
  3. Zhang Y, Guo X, Wu A. Association between a novel mutation in SLC20A2 and familial idiopathic basal ganglia calcification. PLoS ONE. 2013;8:e57060 pubmed publisher
    ..We propose that the regional expression pattern of SLC20A1 and SLC20A2 might explain the unique calcification pattern observed in FIBGC patients...
  4. Gasso P, Mas S, Bernardo M, Alvarez S, Parellada E, Lafuente A. A common variant in DRD3 gene is associated with risperidone-induced extrapyramidal symptoms. Pharmacogenomics J. 2009;9:404-10 pubmed publisher
    ..AP-induced EPS remains a serious public health problem. Our finding of a common SNP (rs167771) in the DRD3 gene provides a strong new candidate gene for risperidone-induced EPS...
  5. Bindu P, Noone M, Nalini A, Muthane U, Kovoor J. Biotin-responsive basal ganglia disease: a treatable and reversible neurological disorder of childhood. J Child Neurol. 2009;24:750-2 pubmed publisher
    ..Only few cases have been reported earlier in literature. We report a case of biotin-responsive basal ganglia disease suspected clinically, corroborated by neuroimaging and a dramatic response to biotin therapy...
  6. El Hajj T, Karam P, Mikati M. Biotin-responsive basal ganglia disease: case report and review of the literature. Neuropediatrics. 2008;39:268-71 pubmed publisher
    ..Since our case showed differences with those in the literature, it might represent a new entity or a milder form of the same entity...
  7. da Silva R, Pereira I, Oliveira J. Analysis of gene expression pattern and neuroanatomical correlates for SLC20A2 (PiT-2) shows a molecular network with potential impact in idiopathic basal ganglia calcification ("Fahr's disease"). J Mol Neurosci. 2013;50:280-3 pubmed publisher
    ..Lastly, these co-expression networks suggest additional further candidate genes for FIBGC...
  8. Abubakar S, Saidu S. Idiopathic bilateral strio-pallido-dentate calcinosis (Fahr's disease): a case report and review of the literature. Ann Afr Med. 2012;11:234-7 pubmed publisher
    ..This review presents a case of bilateral strio-pallido-dentate calcification; it also affirms the fact that Fahr's disease could present with hyperkinetic movement disorder (chorea) in our setting...
  9. Debs R, Depienne C, Rastetter A, Bellanger A, Degos B, Galanaud D, et al. Biotin-responsive basal ganglia disease in ethnic Europeans with novel SLC19A3 mutations. Arch Neurol. 2010;67:126-30 pubmed publisher
    ..To report the first 2 European cases of biotin-responsive basal ganglia disease and novel SLC19A3 mutations...
  10. Oliveira J, Spiteri E, Sobrido M, Hopfer S, Klepper J, Voit T, et al. Genetic heterogeneity in familial idiopathic basal ganglia calcification (Fahr disease). Neurology. 2004;63:2165-7 pubmed
    ..The authors found evidence against linkage to IBGC1 in five of the six families supporting previous preliminary studies demonstrating genetic heterogeneity in familial IBGC...
  11. Bowden C, Grunze H, Mullen J, Brecher M, Paulsson B, Jones M, et al. A randomized, double-blind, placebo-controlled efficacy and safety study of quetiapine or lithium as monotherapy for mania in bipolar disorder. J Clin Psychiatry. 2005;66:111-21 pubmed
    ..To evaluate the efficacy and tolerability of quetiapine monotherapy versus placebo for the treatment of mania associated with bipolar disorder...
  12. Modrego P, Mojonero J, Serrano M, Fayed N. Fahr's syndrome presenting with pure and progressive presenile dementia. Neurol Sci. 2005;26:367-9 pubmed
    ..The clinical and radiological features of our patient point to this uncommon form of dementia...
  13. Zeng W, Al Yamani E, Acierno J, Slaugenhaupt S, Gillis T, MacDonald M, et al. Biotin-responsive basal ganglia disease maps to 2q36.3 and is due to mutations in SLC19A3. Am J Hum Genet. 2005;77:16-26 pubmed
  14. Correll C, Penzner J, Parikh U, Mughal T, Javed T, Carbon M, et al. Recognizing and monitoring adverse events of second-generation antipsychotics in children and adolescents. Child Adolesc Psychiatr Clin N Am. 2006;15:177-206 pubmed
    ..This article presents an overview of SGA-related side effects in children and adolescents and strategies to monitor health outcomes effectively in youngsters receiving SGAs...
  15. Chouinard G, Margolese H. Manual for the Extrapyramidal Symptom Rating Scale (ESRS). Schizophr Res. 2005;76:247-65 pubmed
    ..ESRS specificity was investigated through two different approaches, path analyses and ANCOVA PANSS factors changes, which found that ESRS measurement of drug-induced EPS is valid and discriminative from psychiatric symptoms...
  16. Fitzgerald D, Drago V, Jeong Y, Chang Y, White K, Heilman K. Asymmetrical alien hands in corticobasal degeneration. Mov Disord. 2007;22:581-4 pubmed
    ..Mitgehen is often associated with frontal dysfunction, but avoidance response and levitation are often associated with parietal dysfunction...
  17. Tenback D, van Harten P, Slooff C, Van Os J. Evidence that early extrapyramidal symptoms predict later tardive dyskinesia: a prospective analysis of 10,000 patients in the European Schizophrenia Outpatient Health Outcomes (SOHO) study. Am J Psychiatry. 2006;163:1438-40 pubmed
    ..This study examined whether extrapyramidal symptoms predict incidence of tardive dyskinesia 1 year later...
  18. Manyam B. What is and what is not 'Fahr's disease'. Parkinsonism Relat Disord. 2005;11:73-80 pubmed
    ..Calcium and other mineral deposits cannot be linked to a single chromosomal locus. Further genetic studies to identify the chromosomal locus for the disease are in progress...
  19. Cavazzoni P, Berg P, Kryzhanovskaya L, Briggs S, Roddy T, Tohen M, et al. Comparison of treatment-emergent extrapyramidal symptoms in patients with bipolar mania or schizophrenia during olanzapine clinical trials. J Clin Psychiatry. 2006;67:107-13 pubmed
    ..The present analysis retrospectively examined olanzapine clinical trial data for incidence of treatment-emergent EPS in patients with either schizophrenia or bipolar disorder...
  20. Shoyama M, Shouyama M, Kitabata Y, Kaku T, Shinosaki K. Evaluation of regional cerebral blood flow in fahr disease with schizophrenia-like psychosis: a case report. AJNR Am J Neuroradiol. 2005;26:2527-9 pubmed
    ..Such perfusion abnormalities may reflect psychotic symptoms, including auditory hallucinations and delusions, which suggests a disruption of the cortico-subcortical neural circuits in psychosis...
  21. Correll C. Balancing efficacy and safety in treatment with antipsychotics. CNS Spectr. 2007;12:12-20, 35 pubmed
  22. Murray R, Neumann M, Forman M, Farmer J, Massimo L, Rice A, et al. Cognitive and motor assessment in autopsy-proven corticobasal degeneration. Neurology. 2007;68:1274-83 pubmed
    ..To investigate the clinical features of autopsy-proven corticobasal degeneration (CBD)...
  23. Subramanian V, Marchant J, Said H. Biotin-responsive basal ganglia disease-linked mutations inhibit thiamine transport via hTHTR2: biotin is not a substrate for hTHTR2. Am J Physiol Cell Physiol. 2006;291:C851-9 pubmed
    ..These results cast doubt on the most parsimonious explanation for the BBGD phenotype, namely that hTHTR2 is a physiological biotin transporter...
  24. Parkkinen L, Kauppinen T, Pirttila T, Autere J, Alafuzoff I. Alpha-synuclein pathology does not predict extrapyramidal symptoms or dementia. Ann Neurol. 2005;57:82-91 pubmed
    ..Some neurologically unimpaired cases had a reasonable burden of alpha-synuclein pathology in both brainstem and cortical areas, suggesting that alpha-synuclein-positive structures are not definite markers of neuronal dysfunction...
  25. Güzey C, Scordo M, Spina E, Landsem V, Spigset O. Antipsychotic-induced extrapyramidal symptoms in patients with schizophrenia: associations with dopamine and serotonin receptor and transporter polymorphisms. Eur J Clin Pharmacol. 2007;63:233-41 pubmed
    ..Little is known about the influence of polymorphisms of the dopamine and serotonin system on the risk for extrapyramidal symptoms (EPS) during treatment with antipsychotic drugs...
  26. Scherk H, Pajonk F, Leucht S. Second-generation antipsychotic agents in the treatment of acute mania: a systematic review and meta-analysis of randomized controlled trials. Arch Gen Psychiatry. 2007;64:442-55 pubmed
    ..Meta-analyses addressing the use of SGAs in the treatment of acute mania are lacking...
  27. Mondal G, Kumar R, Ghosh J, Basu K, Chatterjee S. Basal ganglia involvement in a child with herpes simplex encephalitis. Indian J Pediatr. 2009;76:749-50 pubmed publisher
    ..Patient gradually become unconscious in the next few hours and pupils were constricted bilaterally with development of atonia in all four limbs and neck muscles. Doll's eye phenomenon was absent...
  28. Jung N, Lee J. Secondary tics after osmotic demyelination syndrome involving both the striatum and the cerebral cortex. J Clin Neurosci. 2012;19:179-80 pubmed publisher
    ..We can hypothesize that aberrant neuronal plasticity after the initial insult in both basal ganglia and motor cortical areas could be implicated in the pathogenesis of delayed-onset tics...
  29. Tatsch K. Extrapyramidal syndromes: PET and SPECT. Neuroimaging Clin N Am. 2010;20:57-68 pubmed publisher
    ..This article gives an overview of the current positron emission tomography and single photon emission computed tomography applications for diagnosing ES and focuses on their use in clinical practice...
  30. Dintchov Traykov L, Mehrabian S, Van den Broeck M, Radoslavova Raycheva M, Cruts M, Kirilova Jordanova A, et al. Novel PSEN1 mutation in a Bulgarian patient with very early-onset Alzheimer's disease, spastic paraparesis, and extrapyramidal signs. Am J Alzheimers Dis Other Demen. 2009;24:404-7 pubmed publisher
  31. Dill P, Datta A, Weber P, Schneider J. Are vigabatrin induced T2 hyperintensities in cranial MRI associated with acute encephalopathy and extrapyramidal symptoms?. Eur J Paediatr Neurol. 2013;17:311-5 pubmed publisher
    ..We report two patients with infantile spasms, who not only developed transient T2-hyperintensities, but also presented acute encephalopathy, and extrapyramidal symptoms under vigabatrin therapy...
  32. Villani A, Bouffet E, Blaser S, Millar B, Hawkins C, Bartels U. Inherent diagnostic and treatment challenges in germinoma of the basal ganglia: a case report and review of the literature. J Neurooncol. 2008;88:309-14 pubmed publisher
    ..Based on an unusual case of a basal ganglia germinoma in a 13-year-old Caucasian male, we highlight the diagnostic challenges and discuss treatment considerations in this disease...
  33. Beste C, Willemssen R, Saft C, Falkenstein M. Error processing in normal aging and in basal ganglia disorders. Neuroscience. 2009;159:143-9 pubmed publisher
    ..Hence we ask, if error processing functions are differentially modulated by normal aging and basal ganglia diseases. Error processing mechanisms in these groups were investigated using a cognitive event-related potential (..
  34. Friedrich C, Rüdiger H, Schmidt C, Herting B, Prieur S, Junghanns S, et al. Baroreflex sensitivity and power spectral analysis during autonomic testing in different extrapyramidal syndromes. Mov Disord. 2010;25:315-24 pubmed publisher
  35. de Oliveira Souza R, Tovar Moll F. The unbearable lightness of the extrapyramidal system. J Hist Neurosci. 2012;21:280-92 pubmed publisher
  36. Alazami A, Schneider S, Bonneau D, Pasquier L, Carecchio M, Kojovic M, et al. C2orf37 mutational spectrum in Woodhouse-Sakati syndrome patients. Clin Genet. 2010;78:585-90 pubmed publisher
  37. Kasten M, Brüggemann N, Konig I, Doerry K, Steinlechner S, Wenzel L, et al. Risk for antipsychotic-induced extrapyramidal symptoms: influence of family history and genetic susceptibility. Psychopharmacology (Berl). 2011;214:729-36 pubmed publisher
    ..This study aims to further evaluate the impact of family history of primary movement disorders (FHpMD) and a candidate genetic variant on risk of antipsychotic-induced extrapyramidal symptoms (EPS)...
  38. Keogh M, Khan A, Gorman G, McNeill A, Horvath R, Burn J, et al. An unusual gait following the discovery of a new disease. Pract Neurol. 2011;11:81-4 pubmed publisher
    ..This case highlights the key clinical features and diagnostic approach to neuroferritinopathy, and describes the discovery of the disease in a family from Cumbria in the north west of England...
  39. Dindyal S, Mistry K, Angamuthu N, Smith G, Hilton D, Arumugam P, et al. MELAS syndrome presenting as an acute surgical abdomen. Ann R Coll Surg Engl. 2014;96:101E-103E pubmed publisher
    ..We therefore recommend a high index of suspicion in cases of an acute surgical abdomen with additional neurological features or raised lactate. ..
  40. Boog G. [Cerebral palsy and perinatal asphyxia (I--diagnosis)]. Gynecol Obstet Fertil. 2010;38:261-77 pubmed publisher
  41. Matsumoto A, Suzuki H, Fukatsu R, Shimizu H, Suzuki Y, Hisanaga K. An autopsy case of frontotemporal lobar degeneration with the appearance of fused in sarcoma inclusions (basophilic inclusion body disease) clinically presenting corticobasal syndrome. Neuropathology. 2016;36:77-87 pubmed publisher
    ..Our case suggested further pathological heterogeneity in CBS than had previously been reported. It is necessary to consider FTLD-FUS (BIBD) as a background pathology for CBS in the future. ..
  42. Zamarian L, Bodner T, Revkin S, Benke T, Boesch S, Donnemiller E, et al. Numerical deficits in a single case of basal ganglia dysfunction. Neurocase. 2009;15:390-404 pubmed publisher
  43. Battisti C, Forte F, Rubenni E, Dotti M, Bartali A, Gennari P, et al. Two cases of hemichorea-hemiballism with nonketotic hyperglycemia: a new point of view. Neurol Sci. 2009;30:179-83 pubmed publisher
    ..The symptoms persisted in one of them after recovery of normal glycemia. The pathophysiological mechanism of the disease is discussed in the light of clinical and neuroradiological follow-up...
  44. Yoganathan S, Arunachal G, Sudhakar S, Rajaraman V, Thomas M, Danda S. Beta Propellar Protein-Associated Neurodegeneration: A Rare Cause of Infantile Autistic Regression and Intracranial Calcification. Neuropediatrics. 2016;47:123-7 pubmed publisher
    ..Treatment is usually supportive. More research is needed to explore drugs in the management of BPAN that can facilitate the autophagy and promotes cytoprotection. ..
  45. Robertson B, Evans A, Walterfang M, Ng A, Velakoulis D. Epilepsy, progessive movement disorder and cognitive decline. J Clin Neurosci. 2008;15:812 pubmed
  46. Nicolas G, Pottier C, Charbonnier C, Guyant Marechal L, Le Ber I, Pariente J, et al. Phenotypic spectrum of probable and genetically-confirmed idiopathic basal ganglia calcification. Brain. 2013;136:3395-407 pubmed publisher
    ..Other biomarkers may be helpful in better predicting clinical expression. ..
  47. Eroglu U, Kahilogullari G, Demirel A, Arat A, Unlu A. Fahr's Syndrome Associated with Multiple Intracranial Aneurysms: A Case Report. Turk Neurosurg. 2016;26:643-5 pubmed publisher
    ..Her examinations revealed aneurysms on the middle cerebral artery, internal carotid artery and ophthalmic artery. That is the first case reported in the literature having multiple intracranial aneurysms and Fahr's Syndrome together. ..
  48. Maley A, HEBERT C. Catatonia and psychosis in a case suggesting Fahr's disease. Gen Hosp Psychiatry. 2013;35:451.e11-3 pubmed publisher
    ..While diverse neuropsychiatric symptoms have been reported in Fahr's disease, few reports of catatonia in this condition exist. We present a case of psychosis and catatonia in a patient with Fahr's disease. ..
  49. Ribbe K, Friedrichs H, Begemann M, Grube S, Papiol S, Kastner A, et al. The cross-sectional GRAS sample: a comprehensive phenotypical data collection of schizophrenic patients. BMC Psychiatry. 2010;10:91 pubmed publisher
    ..This approach is different from and complementary to the genome-wide association studies (GWAS) on schizophrenia...
  50. Aravind V, Krishnaram V, Neethiarau V, Srinivasan K. Wilson's disease--a rare psychiatric presentation. J Indian Med Assoc. 2009;107:456-7 pubmed
    ..The findings and its implications are highlighted and discussed...
  51. Gallucci M, Limbucci N, Catalucci A, Caulo M. Neurodegenerative diseases. Radiol Clin North Am. 2008;46:799-817, vii pubmed publisher
    ..Entities discussed include primary degenerative dementias, extrapyramidal system diseases, and vascular dementias...
  52. Kreitzer A. Physiology and pharmacology of striatal neurons. Annu Rev Neurosci. 2009;32:127-47 pubmed publisher
    ..This review examines the cellular physiology and modulation of striatal neurons that give rise to their unique properties and function...
  53. Debray F, Lambert M, Gagne R, Maranda B, Laframboise R, Mackay N, et al. Pyruvate dehydrogenase deficiency presenting as intermittent isolated acute ataxia. Neuropediatrics. 2008;39:20-3 pubmed publisher
    ..The aim of this study is to report and emphasize unusual presentations of pyruvate dehydrogenase (PDH) deficiency (OMIM 312170)...