Misdiagnosis of Basal Ganglia Disease, Adult-Onset including hidden diseases, diagnosis mistakes, alternative diagnoses, differential diagnoses, and misdiagnosis.
Author: Schwartze, Michael et al.; Genre: Talk; Title: Synchronization in basal ganglia disease: Evidence on speech perception and tapping
Basal Ganglia Calcification - BASAL GANGLIA CALCIFICATION Differential Diagnosis Birth anoxia Idiopathic (most common) bilateral and symmetrical Toxoplasmosis / CMV - usually not limited to basal ganglia Hypoparathyroidism / pseudohypoparathyroidism Fahr syndrome Cockayne syndrome - 1218430580 - Sumer Sethi - Basal ganglion part - Fahrs syndrome
Define Extrapyramidal syndrome. Extrapyramidal syndrome synonyms, Extrapyramidal syndrome pronunciation, Extrapyramidal syndrome translation, English dictionary definition of Extrapyramidal syndrome. abbreviation for earnings per share
Synonyms: FIBGC (formerly), Idiopathic basal ganglia calcification 1, Fahrs Syndrome (formerly), Bilateral striopallidodentate calcinosis, BSPDC, Cerebral calcification nonarteriosclerotic idiopathic adult-onset, Striopallidodentate calcinosis autosomal dominant adult-onset, Ferrocalcinosis, cerebrovascular, Fahr disease, familial (formerly), Primary familial brain calcification, Familial idiopathic basal ganglia calcification (formerly ...
This gene encodes a ubiquitously expressed transmembrane thiamine transporter that lacks folate transport activity. Mutations in this gene cause biotin-responsive basal ganglia disease (BBGD); a recessive disorder manifested in childhood that progresses to chronic encephalopathy, dystonia, quadriparesis, and death if untreated. Patients with BBGD have bilateral necrosis in the head of the caudate nucleus and in the putamen. Administration of high doses of biotin in the early progression of the disorder eliminates pathological symptoms while delayed treatment results in residual paraparesis, mild cognitive disability, or dystonia. Administration of thiamine is ineffective in the treatment of this disorder. Experiments have failed to show that this protein can transport biotin. Mutations in this gene also cause a Wernickes-like encephalopathy.[provided by RefSeq, Jan 2010 ...
Involvement of the basal ganglia in AIDS encephalopathy is well documented in both adults and children. The pathology remains obscure. A type of inflammation with increased vascularity and disruption of the blood-brain barrier has been postulated. Calcification of the basal ganglia in encephalopathic HIV / AIDS children has been relatively well documented. Only two adult HIV cases with basal ganglion calcification (BGC) have been reported in the literature. At our institution over the past few years, we have noted an increasing number of adult AIDS patients with neurological complications, demonstrating BGC on CT examination. A retrospective review was done. Ninety-six adult cases were identified with BGC. Of these, 38 patients were HIV positive. Review of the 38 HIV-positive cases revealed that all of the patients presented clinically with encephalopathic symptoms, and all showed BGC associated with varying degrees of atrophy on CT scan. Reports of paediatric HIV cases with BGC and encephalopathy have
Relief is when you and the right researcher find each other Finding the right clinical trial for Basal ganglia calcification, idiopathic, 3 can be challenging. However, with TrialsFinder (which uses the Reg4ALL database and privacy controls by Private Access), you can permit researchers to let you know opportunities to consider - all without revealing your identity. ...
This PhD thesis is a study of cortical electrophysiology in two basal ganglia disorders: Parkinsons disease (PD) and dystonia. Two diseases were chosen as being representative of hypokinetic and hyperkinetic movement disorders, respectively. In addition, current treatments seem to be imperfect to control many aspects of both diseases, hence the interest in exploring potential new therapeutic targets. PD and dystonia are basal ganglia diseases, but there is growing body of evidence of impaired cortical function and particularly of abnormal sensorimotor cortical plasticity in both disorders. We however still lack knowledge about functional significance of these cortical changes. Are they maladaptive or compensatory or of little functional significance? Techniques of Transcranial Magnetic (TMS) were used to determine 1) if clinical asymmetry of early PD is reflected in hemispheric asymmetry of sensorimotor cortical plasticity and intracortical inhibition, and 2) how these electrophysiological ...
Is Extrapyramidal Disorder a common side effect of Abilify? View Extrapyramidal Disorder Abilify side effect risks. Female, 48 years of age, was diagnosed with bipolar ii disorder, depression and took Abilify . Patient was hospitalized.
The first videotape begins with an overview of the nervous system appropriate for nursing students or newcomers to a neuroscience setting. Lasting 20 minutes, it presents a clear, systematic examination addressing normal parameters, related terminology, and the rationale for focusing the examination on patient history. Think "systems," the narrator encourages, when trying to identify the source of a neurological deficit. This videotape further engages the viewer by covering some of the resulting signs and symptoms of deficits. Examination of cranial nerves, specifically extraocular eye movements, includes the statement that diplopia is maximal in the area of the neurological deficit. Other examples include the fact that the uvula will deviate away from the side of the lesion and that, in the assessment of movement, rigidity is a sign of basal ganglia disease. Terminology is not consistently provided. For example, in the discussion of a position sense of a digit, the term proprioception is ...
Coarse facial features or "coarse facies" describes a constellation of facial features that are present in many inborn errors of metabolism. Features include: large, bulging head prominent scalp veins "saddle-like, flat bridged nose with broad, fleshy tip" large lips and tongue small, widely spaced and/or malformed teeth hypertrophic alveolar ridges and/or gums Heads tend to be longer than normal from front to back, with a bulging forehead. This is because of the earlier than normal or premature fusion of skull bones in an affected individual. Several conditions are associated with coarse facial features. Acromegaly Alpha-mannosidosis type II Aspartylglycosaminuria Battaglia Neri syndrome Borjeson Syndrome Chromosome 6q deletion syndrome Coarse face - hypotonia - constipation Congenital hypothyroidism Dandy-Walker malformation (with mental retardation basal ganglia disease and seizures) Dyggve-Melchior-Clausen Syndrome Fucosidosis type 1 Fucosidosis type II Gangliosidosis generalized GM1 (type ...
Idiopathic basal ganglia calcification, also known as Fahr disease, is a rare, genetically dominant, inherited neurological disorder characterized by abnormal deposits of calcium in areas of the brain that control movement. Through the use of CT scans, calcifications are seen primarily in the basal ganglia and in other areas such as the cerebral cortex. Symptoms of this disease include deterioration of motor functions and speech, seizures, and other involuntary movement. Other symptoms are headaches, dementia, and vision impairment. Characteristics of Parkinsons Disease are also similar to Fahrs Syndrome. The disease usually manifests itself in the third to fifth decade of life but may appear in childhood or later in life. It usually presents with clumsiness, fatigability, unsteady gait, slow or slurred speech, difficulty swallowing, involuntary movements or muscle cramping. Seizures of various types are common. Neuropsychiatric symptoms, which may be the first or the most prominent ...
Idiopathic Basal Ganglia Calcification, also known as Fahr disease, is a rare, genetically dominant, inherited neurological disorder characterized by abnormal deposits of calcium in areas of the brain that control movement. Through the use of CT scans, calcifications are seen primarily in the basal ganglia and in other areas such as the cerebral cortex. ...
Basal ganglia calcification, idiopathic, 4 (IBGC4) [MIM:615007]: A form of basal ganglia calcification, an autosomal dominant condition characterized by symmetric calcification in the basal ganglia and other brain regions. Affected individuals can either be asymptomatic or show a wide spectrum of neuropsychiatric symptoms, including parkinsonism, dystonia, tremor, ataxia, dementia, psychosis, seizures, and chronic headache. Serum levels of calcium, phosphate, alkaline phosphatase and parathyroid hormone are normal. The neuropathological hallmark of the disease is vascular and pericapillary calcification, mainly of calcium phosphate, in the affected brain areas. {ECO:0000269,PubMed:23255827, ECO:0000269,PubMed:24065723, ECO:0000269,PubMed:26599395}. Note=The disease is caused by mutations affecting the gene represented in this entry ...
Calcifications in the basal ganglia are a common incidental finding and are sometimes inherited as an autosomal dominant trait (idiopathic basal ganglia calcification (IBGC)). Recently, mutations in the PDGFRB gene coding for the platelet-derived growth factor receptor β (PDGF-Rβ) were linked to IBGC. Here we identify six families of different ancestry with nonsense and missense mutations in the gene encoding PDGF-B, the main ligand for PDGF-Rβ. We also show that mice carrying hypomorphic Pdgfb alleles develop brain calcifications that show age-related expansion. The occurrence of these calcium depositions depends on the loss of endothelial PDGF-B and correlates with the degree of pericyte and blood-brain barrier deficiency. Thus, our data present a clear link between Pdgfb mutations and brain calcifications in mice, as well as between PDGFB mutations and IBGC in humans. ...
Alopecia - hypogonadism - extrapyramidal disorder information including symptoms, diagnosis, misdiagnosis, treatment, causes, patient stories, videos, forums, prevention, and prognosis.
Complete information for IBGC1 gene (Genetic Locus), Idiopathic Basal Ganglia Calcification 1, including: function, proteins, disorders, pathways, orthologs, and expression. GeneCards - The Human Gene Compendium
The predominant deficit in this case of FD was a severe impairment of executive functions, mainly including planning, problem solving, and set shifting capacities, but also flexibility and divergent thinking. Furthermore, episodic memory and attentional functions were also grossly compromised. In contrast, basic and higher motor functions, language and basic perceptual abilities remained unimpaired. In addition, the patient experienced a marked personality change with apathy, intermittent disinhibition, irritability, aggression, compulsive features, and anxiety. The functional imaging correlate of the basal ganglia calcification was a regional hypometabolism of the basal ganglia and frontal brain as shown by FDG-PET, whereas brain regions located more posteriorly appeared to have normal metabolism. Hypometabolism in both frontal lobes was extensive and included dorsolateral, ventromedial, and orbitofrontal areas.. The origin of this patients disorder is not clear. Combinations of FD with other ...
Prism adaptation is a form of visuomotor learning in which the visual and motor systems need to be adjusted because a visual perturbation is produced by horizontally displacing prisms. Despite being known for over two centuries, the neuronal substrates of this phenomenon are not yet completely understood. In this article the possible role of the basal ganglia in this kind of learning was analysed through a study of Huntingtons and Parkinsons disease patients. A throwing technique requiring the use of open loop feedback was used. The variables analysed were visuomotor performance, adaptation rate and magnitude, and the after-effect. The results clearly showed that both Huntingtons and Parkinsons disease groups learned at the same rate as control subjects. In addition, despite having a disturbed visuomotor performance, both experimental groups showed the same adaptation magnitude as the control group. Finally, the after-effect, which is measured after removing the prisms, is reduced in both ...
We studied the discharge pattern of motor units (MUs) from the first dorsal interosseous muscle during slight stationary isometric contraction. In six controls, seven patients with parkinsonism, and five patients with choreic disorders, we analyzed 78 MUs. About one-half of the MUs in both patient groups fired irregularly as shown by interval histograms, joint interval histograms, and corresponding statistical calculations. Cross-correlation techniques revealed a characteristic type of MU synchronization in parkinsonism. Analysis of the MU discharge pattern can be useful in clinical assessment of these disorders.. ...
Previous literature showed several etiologies result in Klüver-Bucy syndrome. The most common involved region is the bilateral mesial temporal lo..
Semantic Scholar extracted view of A Rare Association of Fahrs Disease With an Autoimmune Triad. by Jaskirat S. Randhawa et al.
A 50 year old patient is described who presented with parkinsonism, frontal dementia, peripheral neuropathy, neurogenic bladder, and upper motor neuron signs. No improvement in objective measurements of extrapyramidal dysfunction were seen with an incremental apomorphine test or more prolonged oral dopamine challenge. Neurophysiology disclosed changes compatible with a diffuse axonal neuropathy and pathological examination of a length of sural nerve taken at biopsy showed multiple polyglucosan bodies characteristic of adult polyglucosan body disease (APGBD). This case underlines the diverse clinical presentation of this rare neurological disease and the importance of recognising the unusual association of clinical features in making the diagnosis. APGBD should be included in the differential diagnosis of parkinsonism unresponsive to dopaminergic therapy.. ...
Extrapyramidal side effects are symptoms that can occur if you're taking antipsychotic medications. Here's what they include and how they're treated.
Fahrs Syndrome: pain relief, medicines for, what to expect, long-term care, cause, treatment, symptoms, statistics, risks, long-term outlook, complications
Five patients with clinical features of corticobasal degeneration (CBD) were studied with PET imaging. The main clinical findings included a unilateral extrapyramidal motor disorder, without significa
Bradykinesia refers to slowness of movement and is the most characteristic clinical feature of PD, although it may also be seen in other disorders, including depression. Bradykinesia is a hallmark of basal ganglia disorders, and it encompasses difficulties with planning, initiating and executing movement and with performing sequential and simultaneous tasks.22 The initial manifestation is often slowness in performing activities of daily living and slow movement and reaction times.23 24 This may include difficulties with tasks requiring fine motor control (eg, buttoning, using utensils). Other manifestations of bradykinesia include loss of spontaneous movements and gesturing, drooling because of impaired swallowing,25 monotonic and hypophonic dysarthria, loss of facial expression (hypomimia) and decreased blinking, and reduced arm swing while walking. Given that bradykinesia is one of the most easily recognisable symptoms of PD, it may become apparent before any formal neurological examination. ...
By Hubert H. Fernandez, MD, Medical Editor, MDS Website. October 2011. 1. How did you get involved in your specific area of Movement Disorders and your organization?. I have always been fascinated by movement disorders, and in particular Parkinsons disease. I share the curiosity of many including Shakespeare who wrote, why dost thou quiver man. Basal ganglia disorders and particularly Parkinsons disease are a true love for me, and my interactions with patients, families, and colleagues have been a blessing. I have always been the kind of person who enjoys volunteering and particularly working for charity organizations. I had the opportunity a few years ago to become the National Medical Director for the National Parkinson Foundation, and this has proven to be a true honor and privilege. I have become personally moved by the patients and caregivers who write in on a daily basis to our Ask the Expert website forums. I now recognize that Parkinsons disease is a problem of epidemic ...
Prospects for cannabinoid therapies in basal ganglia disorders (PubMed) Evaluation of the neuroprotective effect of cannabinoids in a rat model of Parkinsons disease: Importance of antioxidant and cannabinoid receptor-independent properties(PubMed) Cannabinoids provide neuroprotection against 6-hydroxydopamine toxicity in vivo and in vitro: relevance to Parkinsons disease (PubMed) Cannabidiol can improve complex sleep-related behaviours associated with rapideye movement sleep…
Introduction to Fahrs Syndrome as a medical condition including symptoms, diagnosis, misdiagnosis, treatment, prevention, and prognosis.
Ive gotten it to that time when my symptoms were on all-time-high, to stop me from thinking I would have ***. But my neuro went pale as he heard about it, to be honest..My best friend is a Chemistry and he tried to convice me from the very beginning to stop with it. But I had no power enough to contradict or make a research to that time...Now, every doctor is shaking his head about that medication. Im glad, that I just had a low dose and just for 7 month..but maybe it is a fact that my extrapyramidal disorder derives from it and unsettled my physio....I would never recommend to anybody in any case to take it...Stay away from it ...
Introduction: There is shortage of specialists for the diagnosis of children with neuromotor impairments (NMIs), especially in resource limited settings. Existing International Clinical Epidemiology Network (INCLEN) instrument for diagnosing NMI have been validated for children aged 2-9 years. The current study modified the same including wider symptomatology and age group (1 month to 18 years). Methods: The Modified INCLEN diagnostic tool (INDT) was developed by a team of experts by modifying the existing tool to widen the age range (1 month to 18 years) and include broader symptomatology (inclusion of milestones from the first 2 years of life and better elucidation of cerebellar and extrapyramidal features) in a tertiary care teaching hospital of North India between January and April 2015 ...
In corticobasal degeneration, areas of your brain (including the cerebral cortex and basal ganglia) shrink and your nerve cells degenerate and die over time. This degeneration results in growing difficulty in movement on one or both sides of your body.. The condition may cause you to have poor coordination, stiffness, thinking (cognitive) difficulties, speech or language difficulty, or other problems. ...
Higher affinity for D2 receptors (subsequently less blockade of 5-HT2), causing a greater effect on 'positive' symptoms' and a greater incidence of extrapyramidal side ...
Infantile myofibromatosis (IM), previously known as congenital generalized fibromatosis, is characterized by the development of tumors in various tissues and organs. IM affects mostly infants and young children. Although tumors are usually detected at birth or during the first two years of life, uterine and adult onsets have been also reported (Chung and Enzinger 1981). Two main types of IM, solitary and multicentric, are distinguished. Each type is further divided in two groups based on the presence or absence of visceral involvement (Wiswell et al. 1988). The solitary type is characterized by the development of a single nodule mainly in the bones, striated muscle, skin, or subcutaneous tissues. In rare cases, solitary tumors have been reported in the viscera. The multicentric type is characterized by the development of multiple nodules in various organs. Visceral involvement is common in this type. The lungs, heart, gastrointestinal tract, pancreas, liver, and bones are most commonly affected. ...
Author(s): Sandy Chan Hsu, Renee L Sears, Roberta R Lemos, Beatriz Quintáns, Alden Huang, Elizabeth Spiteri, Lisette Nevarez, Catherine Mamah, Mayana Zatz, Kerrie D Pierce, Janice M Fullerton, John C Adair, Jon E Berner, Matthew Bower, Henry Brodaty, Olga Carmona, Valerija Dobricić, Brent L Fogel, Daniel García-Estevez, Jill Goldman, John L Goudreau, Suellen Hopfer, Milena Janković, Serge Jaumà, Joanna C Jen, Suppachok Kirdlarp, Joerg Klepper, Vladimir Kostić, Anthony E Lang, Agnès Linglart, Melissa K Maisenbacher, Bala V Manyam, Pietro Mazzoni, Zofia Miedzybrodzka, Witoon Mitarnun, Philip B Mitchell, Jennifer Mueller, Ivana Novaković, Martin Paucar, Henry Paulson, Sheila A Simpson, Per Svenningsson, Paul Tuite, Jerrold Vitek, Suppachok Wetchaphanphesat, Charles Williams, Michele Yang, Peter R Schofield, João R M de Oliveira, María-Jesús Sobrido, Daniel H Geschwind, Giovanni Coppola. Journal: Neurogenetics. 2013 Feb;14(1):11-22.. ...
Patients with certain neurodegenerative disorders such as Parkinsons disease and dementia show excessive accumulation of iron in the brain. It has been postulated that these iron deposits damage neurons by inducing oxidative stress, but whether they are a cause or consequence of the disease process is unclear.. Curtis et al. report that the causative mutation in a family with adult-onset basal ganglia disease lies in a gene encoding a subunit of ferritin, a protein that functions in both storage and detoxification of iron. In a study of patients with Hallervorden-Spatz syndrome, an early-onset neurodegenerative disorder, Zhou et al. find that the culprit gene encodes pantothenate kinase (PANK), an essential regulatory enzyme in coenzyme A biosynthesis. The disease-associated mutations in PANK might alter iron levels in the brain indirectly through effects on cysteine levels. Further studies of these new disease genes will be needed to understand the role iron metabolism plays in ...
R MANICKAVASAGAR1, R SINGER2, R SWAMINATHAN1, D PRENTICE3, A IRISH1. 1Fiona Stanley Hospital, Perth, WA; 2Canberra Hospital, Canberra, ACT; 3Royal Perth Hospital, Perth, WA Aim: To characterise the features of acute bilateral basal ganglia dysfunction in dialysis patients and identify possible risk factors and clinical outcomes.. Background: Acute bilateral basal ganglia dysfunction is a rare complication of dialysis, manifesting as a movement disorder with chorea or acute Parkinsonism. In the non-dialysis population, degeneration of the basal ganglia is associated with genetic disorders of iron overload, mutations of Vitamin B5, toxins, hypoxia and metabolic acidosis.. Methods: Retrospective case series describing clinical, biochemical, radiological and post mortem histology features in 15 dialysis patients with acute bilateral basal ganglia syndrome over a 20 year period.. Results: The 15 patients (3 male; 4 ATSI) had an average age of 61±13 years at diagnosis. All were on dialysis (HD= ...
Familial idiopathic basal ganglia calcification (IBGC) is a genetic condition with a wide spectrum of neuropsychiatric symptoms, including parkinsonism and dementia. Here, we identified mutations in SLC20A2, encoding the type III sodium-dependent phosphate transporter 2 (PiT2), in IBGC-affected families of varied ancestry, and we observed significantly impaired phosphate transport activity for all assayed PiT2 mutants in Xenopus laevis oocytes. Our results implicate altered phosphate homeostasis in the etiology of IBGC ...
Arana G, Goff D, Baldessarini R, Keepers G. Efficacy of anticholinergic prophylaxis for neuroleptic induced acute dystonia. Am J Psychiatry 1988;145:993-6.. Divac N et al.: Review Article: Second-Generation Antipsychotics and Extrapyramidal Adverse Effects, BioMed Research International 2014,. http://dx.doi.org/10.1155/2014/656370. Rummel-Kluge C et al.: Second-Generation Antipsychotic Drugs and Extrapyramidal Side Effects: A Systematic Review and Meta-analysis of Head-to-Head Comparisons. Schizophr Bull. 2012 Jan; 38(1): 167-177. Published online 2010 May 31. doi: 10.1093/schbul/sbq042. DSouza R, Hooten W: Extrapyramidal Symptoms (EPS), 2019. StatPearls [Internet]. https://www.ncbi.nlm.nih.gov/books/NBK534115/. Gharabawi GM, Bossie CA, Lasser RA, Turkoz I, Rodriguez S, Chouinard G. Abnormal Involuntary Movement Scale (AIMS) and Extrapyramidal Symptom Rating Scale (ESRS): Cross-scale comparison in assessing tardive dyskinesia. Schizophr Res 2005;77:119-28.. Muench J, Hamer A.: Adverse Effects ...
Fahrs disease or syndrome is a rare inherited or sporadic neurological disorder with a prevalence of less than 1/1,000,000 [1]. Recently, a number of genes have been identified, known to be associated with familial primary brain calcification (PFBC), causing Fahrs disease or syndrome [1]. These genes are SCL20A2, PDGFB, PDGFRB and XPR1, and a significant correlation was found between the presence of headache in PDGFB mutations, and parkinsonism with SLC20A2 [2].. We present the case of a 49-year-old woman with Greenlandic Inuit origin and an otherwise unremarkable medical history. She initially presented with symptoms of headache and diplopia. She was referred to a CT scan of the cerebrum, which showed bilateral calcifications of the thalamus and corpus striatum (Figures 1 and 2) compatible with Fahrs syndrome [1]. Shortly after, the patient developed tremor of the right hand, fatigability especially of her right side, dizziness, and minor cognitive decline.. ...
The cognitive profile of Alzheimer patients without (AD E-, n=17) and with (AD, E+, n=15) extrapyramidal signs (rigidity or bradykinesia), at the time of diagnosis, was examined in a 3-year follow-up
Pseudohypoparathyroidism is a disease where there is end-organ resistance to parathyroid hormone. Some of central nervous system manifestations of this condition are: basal ganglia calcification, sclerochoroidal calcification and deep white matt...
Autosomal dominant hypocalcaemia type 1 (ADH1) is a rare familial disorder characterised by low serum calcium and low or inappropriately normal serum PTH. It is caused by activating CASR mutations, which produces a left-shift in the set point for extracellular calcium. We describe an Australian family with a novel heterozygous missense mutation in CASR causing ADH1. Mild neuromuscular symptoms (paraesthesia, carpopedal spasm) were present in most affected individuals and required treatment with calcium and calcitriol. Basal ganglia calcification was present in three out of four affected family members. This case highlights the importance of correctly identifying genetic causes of hypocalcaemia to allow for proper management and screening of family members. ...
Zhornitsky, S., Stip, E., Pampoulova, T., Rizkallah, É., Lipp, O., Bentaleb, L. A., Chiasson, J.-P. and Potvin, S. (2010), Extrapyramidal symptoms in substance abusers with and without schizophrenia and in nonabusing patients with schizophrenia. Mov. Disord., 25: 2188-2194. doi: 10.1002/mds.23227 ...
RESULTS: Abnormal MR findings were more common in patients with systemic lupus erythematosus with antiphospholipid syndrome (73% versus 53%). Large territorial (P = .01), lacunar (P = .01), localized cortical (P , .01), borderzone infarcts (P , .01), basal ganglia lesions (P = .03), stenotic arterial lesions (P = .04), and the rate of positive findings on MR imaging (P = .01) were significantly associated with antiphospholipid syndrome. Irrespective of age, significantly more patients with antiphospholipid syndrome manifested lacunar infarcts in the deep white matter (P , .01), localized cortical infarcts in the territory of the MCA (P , .01), bilateral borderzone infarcts (P , .01), and anterior basal ganglia lesions (P = .01). ...
Fahrs Syndrome is a rare, genetically dominant, inherited neurological disorder characterized by abnormal deposits of calcium in areas of the brain that control movement, including the basal ganglia and the cerebral cortex. Symptoms of the disorder may include deterioration of motor function, dementia, seizures, headache, dysarthria (poorly articulated speech),spasticity (stiffness of the limbs) and spastic paralysis, eye impairments, and athetosis (involuntary, writhing movements). Fahrs Syndrome can also include symptoms characteristic of Parkinsons disease such as tremors, muscle rigidity, a mask-like facial appearance, shuffling gait, and a "pill-rolling" motion of the fingers. These symptoms generally occur later in the development of the disease. More common symptoms include dystonia (disordered muscle tone) and chorea (involuntary, rapid, jerky movements). Age of onset is typically in the 40s or 50s, although it can occur at any time in childhood or adolescence.. ...
2Ankara University, School of Medicine, Department of Radiology, Ankara, Turkey DOI : 10.5137/1019-5149.JTN.8574-13.0 Fahrs Syndrome is characterized by the presence of intracerebral, bilateral and symmetrical calcifications located in bilateral basal ganglia, thalamus, and cerebellum. The etiology is not exactly known. The authors reported a very rare case who had Fahrs Syndrome and intracerebral aneurysms simultaneously. The patient was female and presented with headache. 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 Fahrs Syndrome together. Keywords : Fahrs syndrome, Aneurysm, Calcification ...