Review

Authors: R L Albin, A B Young, J B Penney...

Basal ganglia disorders are a heterogeneous group of clinical syndromes with a common anatomic locus within the basal ganglia. To account for the variety of clinical manifestations associated with insults to various parts of the basal ganglia we propose a model in which specific types of basal ganglia disorders are associated with changes in the function of subpopulations of striatal projection neurons. This model is based on a synthesis of experimental animal and post-mortem human anatomic and neurochemical data. Hyperkinetic disorders, which are characterized by an excess of abnormal movements, are postulated to result from the selective impairment of striatal neurons projecting to the lateral globus pallidus. Hypokinetic disorders, such as Parkinson's disease, are hypothesized to result from a complex series of changes in the activity of striatal projection neuron subpopulations resulting in an increase in basal ganglia output. This model suggests that the activity of subpopulations of striatal projection neurons is differentially regulated by striatal afferents and that different striatal projection neuron subpopulations may mediate different aspects of motor control.

Topics: Basal Ganglia; Basal Ganglia Diseases; Humans; Movement Disorders

PubMed: 2479133
DOI: 10.1016/0166-2236(89)90074-x

Review

Authors: Shafaq Saleem, Hafiz Muhammad Aslam, Maheen Anwar...

Fahr's disease or Fahr's syndrome is a rare, neurological disorder characterized by abnormal calcified deposits in basal ganglia and cerebral cortex. Calcified deposits are made up of calcium carbonate and calcium phosphate, and are commonly located in the Basal Ganglia, Thalamus, Hippocampus, Cerebral cortex, Cerebellar Subcortical white matter and Dentate Nucleus. Molecular genetics of this disease haven't been studied extensively; hence evidence at the molecular and genetic level is limited. Fahr's disease commonly affects young to middle aged adults. Etiology of this syndrome does not identify a specific agent but associations with a number of conditions have been noted; most common of which are endocrine disorders, mitochondrial myopathies, dermatological abnormalities and infectious diseases. Clinical manifestations of this disease incorporate a wide variety of symptoms, ranging from neurological symptoms of extrapyramidal system to neuropsychiatric abnormalities of memory and concentration to movement disorders including Parkinsonism, chorea and tremors amongst others. Diagnostic criteria for this disease has been formulated after modifications from previous evidence and can be stated briefly, it consist of bilateral calcification of basal ganglia, progressive neurologic dysfunction, absence of biochemical abnormalities, absence of an infectious, traumatic or toxic cause and a significant family history. Imaging modalities for the diagnosis include CT, MRI, and plain radiography of skull. Other investigations include blood and urine testing for hematologic and biochemical indices. Disease is as yet incurable but management and treatment strategies mainly focus on symptomatic relief and eradication of causative factors; however certain evidence is present to suggest that early diagnosis and treatment can reverse the calcification process leading to complete recovery of mental functions. Families with a known history of Fahr's disease should be counseled prior to conception so that the birth of affected babies can be prevented. This review was written with the aim to remark on the current substantial evidence surrounding this disease.

Topics: Basal Ganglia Diseases; Calcinosis; Female; Humans; Male

PubMed: 24098952
DOI: 10.1186/1750-1172-8-156

Review

Authors: Giulia Donzuso, Giovanni Mostile, Alessandra Nicoletti...

Basal ganglia calcifications could be incidental findings up to 20% of asymptomatic patients undergoing CT or MRI scan. The presence of neuropsychiatric symptoms associated with bilateral basal ganglia calcifications (which could occur in other peculiar brain structures, such as dentate nuclei) identifies a clinical picture defined as Fahr's Disease. This denomination mainly refers to idiopathic forms in which no metabolic or other underlying causes are identified. Recently, mutations in four different genes (SLC20A2, PDGFRB, PDGFB, and XPR1) were identified, together with novel mutations in the Myogenic Regulating Glycosylase gene, causing the occurrence of movement disorders, cognitive decline, and psychiatric symptoms. On the other hand, secondary forms, also identified as Fahr's syndrome, have been associated with different conditions: endocrine abnormalities of PTH, such as hypoparathyroidism, other genetically determined conditions, brain infections, or toxic exposure. The underlying pathophysiology seems to be related to an abnormal calcium/phosphorus homeostasis and transportation and alteration of the blood-brain barrier.

Topics: Autoimmune Diseases of the Nervous System; Basal Ganglia Diseases; Calcinosis; Cockayne Syndrome; Humans; Hypoparathyroidism; Lupus Vasculitis, Central Nervous System; Mitochondrial Diseases; Nervous System Malformations; Neurodegenerative Diseases; Neurotoxicity Syndromes; Pseudohypoparathyroidism; Xenotropic and Polytropic Retrovirus Receptor

PubMed: 31267306
DOI: 10.1007/s10072-019-03998-x

Review

Authors: Keming Gao, David E Kemp, Stephen J Ganocy...

OBJECTIVES

Newer atypical antipsychotics have been reported to cause a lower incidence of extrapyramidal side effects (EPS) than conventional agents. This review is to compare antipsychotic-induced EPS relative to placebo in bipolar disorder (BPD) and schizophrenia.

METHODS

English-language literature cited in Medline was searched with terms antipsychotics, placebo-controlled trial, and bipolar disorder or schizophrenia and then with antipsychotic (generic/brand name), safety, akathisia, EPS, or anticholinergic use, bipolar mania/depression, BPD, or schizophrenia, and randomized clinical trial. Randomized, double-blind, placebo-controlled, monotherapy studies with comparable doses in both BPD and schizophrenia were included. Absolute risk increase and number needed to treat to harm (NNTH) for akathisia, overall EPS, and anticholinergic use relative to placebo were estimated.

RESULTS

Eleven trials in mania, 4 in bipolar depression, and 8 in schizophrenia were included. Haloperidol significantly increased the risk for akathisia, overall EPS, and anticholinergic use in both mania and schizophrenia, with a larger magnitude in mania, an NNTH for akathisia of 4 versus 7, EPS of 3 versus 5, and anticholinergic use of 2 versus 4, respectively Among atypical antipsychotics, only ziprasidone significantly increased the risk for overall EPS and anticholinergic use in both mania and schizophrenia, again with larger differences in mania, an NNTH for overall EPS of 11 versus 19, and anticholinergic use of 5 versus 9. In addition, risks were significantly increased for overall EPS (NNTH = 5) and anticholinergic use (NNTH = 5) in risperidone-treated mania, akathisia in aripiprazole-treated mania (NNTH = 9) and bipolar depression (NNTH = 5), and overall EPS (NNTH = 19) in quetiapine-treated bipolar depression.

CONCLUSIONS

Bipolar patients, especially in depression, were more vulnerable to having acute antipsychotic-induced movement disorders than those with schizophrenia.

Topics: Antipsychotic Agents; Basal Ganglia Diseases; Bipolar Disorder; Humans; Randomized Controlled Trials as Topic; Schizophrenia; Time Factors

PubMed: 18344731
DOI: 10.1097/JCP.0b013e318166c4d5

Authors: A Kertesz

Topics: Basal Ganglia Diseases; Humans; Neurodegenerative Diseases

PubMed: 10675206
DOI: 10.1136/jnnp.68.3.275

Authors: Akhila Kumar Panda, Kiran Bala, Lomesh Bhirud...

Organophosphate (OP) poisoning is a common occurrence in the rural areas of developing countries like India. Acute cholinergic crisis is one of the important causes of mortality related to OP poisoning. Delayed peripheral neuropathy, extrapyramidal syndromes and neuropsychiatric manifestations are the major consequences of secondary neuronal damage. This case illustrates a 14-year-old girl who ingested 50 mL of OP pesticide and developed extrapyramidal symptoms in the form of parkinsonism and hand dystonia in spite of immediate medical attention. MRI of the brain with T2, fluid attenuated inversion recovery and diffusion-weighted sequences revealed bilateral symmetrical basal ganglia hyperintensities. Further follow-up revealed a significant clinical improvement with marked resolutions of the brain lesions. The reversible extrapyramidal symptoms with disappearance of neuroimaging findings without neuropathy or neuropsychiatric manifestations are unusual in OP poisoning.

Topics: Adolescent; Basal Ganglia; Basal Ganglia Diseases; Brain; Developing Countries; Diffusion Magnetic Resonance Imaging; Female; Glasgow Coma Scale; Humans; Magnetic Resonance Imaging; Neurologic Examination; Organophosphate Poisoning; Physical Therapy Modalities

PubMed: 24398867
DOI: 10.1136/bcr-2013-009752

Authors: Jyoti Ranjan Parida, Durga Prasanna Misra, Vikas Agarwal...

Topics: Adolescent; Basal Ganglia Diseases; Calcinosis; Consanguinity; Facial Dermatoses; Female; Hand Dermatoses; Humans; Lipoid Proteinosis of Urbach and Wiethe; Magnetic Resonance Imaging

PubMed: 26336196
DOI: 10.1136/bcr-2015-212443

Authors: M V Baptista, J Vale, O Leitão...

Striato-pallido-dentate calcifications (SPDC) is a well defined entity, characterized by calcium deposits in the basal ganglia, dentate nuclei and the centrum semiovale. Several metabolic derangements have been associated with this entity, particularly parathyroid disorders. The traditional designation of Fahr's syndrome should be restricted to the idiopathic cases. The authors report a study of seven patients with SPDC. Hypocalcemia was found in three cases, two with pseudohypoparathyroidism and one with hypoparathyroidism. Fahr's syndrome was diagnosed in four patients. Clinical and laboratory features are presented. Neurological manifestations included epilepsy, dementia and parkinsonism. Discussion focuses on the distinction of this entity from the small pallidal calcifications and on the pathophysiology of basal ganglia mineralisation, in view of recent reports.

Topics: Adolescent; Adult; Aged; Basal Ganglia Diseases; Calcinosis; Cerebellar Diseases; Cerebellar Nuclei; Electroencephalography; Female; Globus Pallidus; Humans; Male; Middle Aged; Syndrome; Tomography, X-Ray Computed

PubMed: 9446474
DOI: No ID Found

Guideline concordant screening and monitoring of extrapyramidal symptoms in patients prescribed antipsychotic medication: a protocol for a systematic literature review and narrative synthesis.

Authors: Rebekah Aubry, Thomas Hastings, Micheal Morgan...

INTRODUCTION

Given the increasing rates of antipsychotic use in multiple psychiatric conditions, greater attention to the assessment, monitoring and documentation of their side effects is warranted. While a significant degree of attention has been provided to metabolic side effect monitoring, comparatively little is known about how clinicians screen for, document and monitor the motor side effects of antipsychotics (ie, parkinsonism, akathisia, dystonia and dyskinesias, collectively 'extrapyramidal side effects', EPS). This review aims to systematically assess the literature for insights into current trends in EPS monitoring practices within various mental health settings globally.

METHODS AND ANALYSIS

An electronic search will be performed using the OVID Medline, PubMed, Embase, CINAHL and APA PsycINFO databases for studies published in the last quarter century (1998 to present day). Two independent reviewers will conduct the initial title and abstract screenings, using predetermined criteria for inclusion and exclusion. A third reviewer will resolve disagreements if consensus cannot be reached. If selected for inclusion, full-text data extraction will then be conducted using a pilot-tested data extraction form. Quality assessment will be conducted for all included studies using a modified version of the Quality Improvement Minimum Quality Criteria Set. A narrative synthesis and summary of the data will be provided. All stages of the review process will be reported in accordance with the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines.

ETHICS AND DISSEMINATION

Ethical approval is not required. Findings will be peer reviewed, published and shared verbally, electronically and in print with interested clinicians and will also be presented as posters or talks at relevant medical conferences and meetings.

PROSPERO REGISTRATION NUMBER

CRD42023482372.

Topics: Humans; Systematic Reviews as Topic; Antipsychotic Agents; Basal Ganglia Diseases; Research Design; Practice Guidelines as Topic

PubMed: 39266320
DOI: 10.1136/bmjopen-2024-087632

Authors: Anuradha Mookerjee, Anita Mehta, Udit Chaddha...

Topics: Adolescent; Basal Ganglia Diseases; Brain; Calcinosis; Female; Humans; Neurodegenerative Diseases; Pseudohypoparathyroidism; Seizures; Tomography, X-Ray Computed

PubMed: 24272987
DOI: 10.1136/bcr-2013-201556