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Trends in Neurosciences Oct 1989Basal 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... (Review)
Review
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 -
Orphanet Journal of Rare Diseases Oct 2013Fahr's disease or Fahr's syndrome is a rare, neurological disorder characterized by abnormal calcified deposits in basal ganglia and cerebral cortex. Calcified deposits... (Review)
Review
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 -
Neurological Sciences : Official... Nov 2019Basal ganglia calcifications could be incidental findings up to 20% of asymptomatic patients undergoing CT or MRI scan. The presence of neuropsychiatric symptoms... (Review)
Review
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 -
BMJ Case Reports Jan 2014Organophosphate (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...
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 -
JAMA Neurology May 2020Parkinson disease and related disorders (PDRD) have consequences for quality of life (QoL) and are the 14th leading cause of death in the United States. Despite growing... (Comparative Study)
Comparative Study Randomized Controlled Trial
IMPORTANCE
Parkinson disease and related disorders (PDRD) have consequences for quality of life (QoL) and are the 14th leading cause of death in the United States. Despite growing interest in palliative care (PC) for persons with PDRD, few studies are available supporting its effectiveness.
OBJECTIVE
To determine if outpatient PC is associated with improvements in patient-centered outcomes compared with standard care among patients with PDRD and their caregivers.
DESIGN, SETTING, AND PARTICIPANTS
This randomized clinical trial enrolled participants at 3 academic tertiary care centers between November 1, 2015, and September 30, 2017, and followed them up for 1 year. A total of 584 persons with PDRD were referred to the study. Of those, 351 persons were excluded by phone and 23 were excluded during in-person screenings. Patients were eligible to participate if they had PDRD and moderate to high PC needs. Patients were excluded if they had urgent PC needs, another diagnosis meriting PC, were already receiving PC, or were unable or unwilling to follow the study protocol. Enrolled participants were assigned to receive standard care plus outpatient integrated PC or standard care alone. Data were analyzed between November 1, 2018, and December 9, 2019.
INTERVENTIONS
Outpatient integrated PC administered by a neurologist, social worker, chaplain, and nurse using PC checklists, with guidance and selective involvement from a palliative medicine specialist. Standard care was provided by a neurologist and a primary care practitioner.
MAIN OUTCOMES AND MEASURES
The primary outcomes were the differences in patient quality of life (QoL; measured by the Quality of Life in Alzheimer Disease scale) and caregiver burden (measured by the Zarit Burden Interview) between the PC intervention and standard care groups at 6 months.
RESULTS
A total of 210 patients with PDRD (135 men [64.3%]; mean [SD] age, 70.1 [8.2] years) and 175 caregivers (128 women [73.1%]; mean [SD] age, 66.1 [11.1] years) were enrolled in the study; 193 participants (91.9%) were white and non-Hispanic. Compared with participants receiving standard care alone at 6 months, participants receiving the PC intervention had better QoL (mean [SD], 0.66 [5.5] improvement vs 0.84 [4.2] worsening; treatment effect estimate, 1.87; 95% CI, 0.47-3.27; P = .009). No significant difference was observed in caregiver burden (mean [SD], 2.3 [5.0] improvement vs 1.2 [5.6] improvement in the standard care group; treatment effect estimate, -1.62; 95% CI, -3.32 to 0.09; P = .06). Other significant differences favoring the PC intervention included nonmotor symptom burden, motor symptom severity, completion of advance directives, caregiver anxiety, and caregiver burden at 12 months. No outcomes favored standard care alone. Secondary analyses suggested that benefits were greater for persons with higher PC needs.
CONCLUSIONS AND RELEVANCE
Outpatient PC is associated with benefits among patients with PDRD compared with standard care alone. This study supports efforts to integrate PC into PDRD care. The lack of diversity and implementation of PC at experienced centers suggests a need for implementation research in other populations and care settings.
TRIAL REGISTRATION
ClinicalTrials.gov Identifier: NCT02533921.
Topics: Aged; Ambulatory Care; Basal Ganglia Diseases; Female; Humans; Male; Palliative Care; Parkinson Disease
PubMed: 32040141
DOI: 10.1001/jamaneurol.2019.4992 -
Journal of Clinical Psychopharmacology Apr 2008Newer atypical antipsychotics have been reported to cause a lower incidence of extrapyramidal side effects (EPS) than conventional agents. This review is to compare... (Review)
Review
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 -
BMJ Case Reports Sep 2015
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 -
Jornal Brasileiro de Nefrologia 2022Hypoparathyroidism (HP) is a rare metabolic disorder and causes hypocalcemia because parathyroid hormone secretion is inadequate to mobilize calcium from bone and...
Hypoparathyroidism (HP) is a rare metabolic disorder and causes hypocalcemia because parathyroid hormone secretion is inadequate to mobilize calcium from bone and reabsorb calcium from kidney and gut. Anterior neck surgery is the most common cause of acquired HP and autoimmune HP is the next most common form in adults. The duration, severity, and rate of development of hypocalcemia determine the clinical presentation. A variety of organs can be affected by calcification, more frequently kidneys, but also joints, eyes, skin, vasculature, and other organ systems and, although rarely seen, intracerebral calcifications. We report four cases of bilateral basal ganglia calcifications (BGC) also known as Fahr's syndrome related to hypoparathyroidism. Fahr's syndrome is characterized by bilateral symmetrical calcification of areas of the brain that control movements including basal ganglia, thalamus, and others; it is a rare inherited or sporadic neurological disorder with a prevalence of less than 1/1.000.000. Main symptoms related to bilateral BGC include extra-pyramidal and cerebellar disorders, cognitive impairment, epileptic seizures, and psychiatric changes. BGC has been established as a possible outcome of HP. Its prevalence, demonstrated in the HP cohorts, varied significantly from 12 up to 74%. Currently, computed tomography (CT) is the most valuable method for diagnosis. The treatment include symptomatic support and identification of causes, but there is no specific treatment limiting the progression of calcification in the basal ganglia. Especially in HP, an early treatment can prevent calcification and neurophysiological disorders.
Topics: Adult; Humans; Calcium; Hypocalcemia; Basal Ganglia Diseases; Hypoparathyroidism
PubMed: 34224552
DOI: 10.1590/2175-8239-JBN-2020-0243 -
BMJ Case Reports Nov 2013
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 -
Journal of Neurology, Neurosurgery, and... Mar 2000
Topics: Basal Ganglia Diseases; Humans; Neurodegenerative Diseases
PubMed: 10675206
DOI: 10.1136/jnnp.68.3.275