Possible Causes for Basal Ganglia Dysfunction Lesch-Nyhan Syndrome […] of the basal ganglia dopamine system.[4] Patients with a partial enzyme deficiency (Lesch-Nyhan variants [LNV]) display an incomplete phenotype: overproduction of uric acid [bestpractice.bmj.com] We show that the temporal difference learning algorithm that has been often used to interpret dopaminergic activity in the basal ganglia offers an explanation for the self-mutilation [ncbi.nlm.nih.gov] A final topic is the dysfunction of the basal ganglia and the resulting push to self-mutilate. [serendipstudio.org] Adult-Onset Cervical Dystonia Type DYT23 basal ganglia dysfunction, recent provocative evidence has emerged of cerebellar involvement in the pathophysiology of this enigmatic disease. [en.wikipedia.org] It is proposed that dystonia is a large-scale dysfunction, involving not only cortico-basal ganglia-thalamo-cortical pathways, but the cortico-ponto-cerebello-thalamo-cortical [en.wikipedia.org] ganglia) possibly in Purkinje neurons. [16] Cerebellum issues causing dystonia is described by Filip et al. 2013: "Although dystonia has traditionally been regarded as a [en.wikipedia.org] Senile Chorea The Handbook of Clinical Neurology Vol 100: Hyperkinetic Movement Disorders discusses hyperkinetic disorders related mainly to basal ganglia dysfunction and pathology. [books.google.com] McLeod Neuroacanthocytosis Syndrome The movement disorder suggested accompanying basal ganglia dysfunction. Earlier reports of McLeod syndrome are reviewed with respect to neuromuscular involvement. [read.qxmd.com] ganglia dysfunction. [academiccommons.columbia.edu] ganglia. [academiccommons.columbia.edu] Pyramidal Tract Disorder Increased tone can occur in upper motor neuron lesions, but can also occur in basal ganglia dysfunction (see Neuroanatomy Through Clinical Cases, Key Clinical Concept 16.1 [neuroexam.com] Extrapyramidal syndromes are movement disorders resulting from basal ganglia dysfunction. [forums.studentdoctor.net] A number of well-known movement disorders are associated with basal ganglia dysfunction. [nba.uth.tmc.edu] Childhood-Onset Neurodegeneration with Ataxia - Dystonia - Gaze Palsy «Specificity of the memory deficits associated with basal ganglia dysfunction». Rev. Neurol. (París) (vols. 8-9, núm. 150, págs. 580-587). Duff, K.; Paulsen, J. [cv.uoc.edu] Basal Ganglia Lesion Many brain disorders are associated with basal ganglia dysfunction. [medlineplus.gov] Basal ganglia dysfunction Basal ganglia dysfunction leads to movement disorders and changes in behaviour. [britannica.com] Signs and symptoms of dysfunctional basal ganglia include tremors, spasticity, weakness, and involuntary movements. [multiplesclerosisnewstoday.com] Mitochondrial DNA-Related Leigh Syndrome and NARP SUCLA2; SLC19A3; SURF1; MT-ATP6; mitochondrial NADH dehydrogenase subunits 1 to 6), muscle pathology, brainstem dysfunction on neuroimaging, basal ganglia dysfunction alone [ojrd.biomedcentral.com] The presence of basal ganglia dysfunction alone on neuroimaging was significantly associated with lower occurrence of acute exacerbations and/or relapses. [ojrd.biomedcentral.com] […] and (ii) MRI or CT or neuropathological findings of Leigh syndrome, as follows: bilateral symmetrical lesions in the basal ganglia, and/or thalamus, and/or brainstem. [ojrd.biomedcentral.com] DEAF1-Related Disorders ganglia dysfunction and epilepsy. [genecards.org] ganglia dysfunction and epilepsy Rajab A, et al. (2015) No Dyskinesia, absent speech 9 Recent Recommendation Low load for disruptive mutations in autism genes and their biased [gene.sfari.org] PMID: 9773984) Huggenvik JI … Mowen KA (Molecular endocrinology (Baltimore, Md.) 1998) 2 3 4 21 Recessive DEAF1 mutation associates with autism, intellectual disability, basal [genecards.org] Basal Ganglia Mass Lesion Many brain disorders are associated with basal ganglia dysfunction. [medlineplus.gov] Basal ganglia dysfunction Basal ganglia dysfunction leads to movement disorders and changes in behaviour. [britannica.com] A number of well-known movement disorders are associated with basal ganglia dysfunction. [nba.uth.tmc.edu] Primary Progressive Freezing Gait «Specificity of the memory deficits associated with basal ganglia dysfunction». Rev. Neurol. (París) (vols. 8-9, núm. 150, págs. 580-587). Duff, K.; Paulsen, J. [cv.uoc.edu] Bradykinesia basal ganglia, cortical and brainstem structures. [ncbi.nlm.nih.gov] ganglia dysfunction leads to disturbed sensorimotor integration and associated timing. [ncbi.nlm.nih.gov] In PD, facial bradykinesia is primarily mediated by basal ganglia dysfunction whereas in PSP, facial bradykinesia is a consequence of a widespread degeneration involving the [ncbi.nlm.nih.gov] Mitochondrial Complex 1 Deficiency Nuclear Type 27 It is not surprising that although a wide range of clinical symptoms is found, most patients present similarly with neurological symptoms of brainstem and/or basal ganglia [ncbi.nlm.nih.gov] dysfunction, seizures, hypotonia, periodic disease exacerbation with illness, and progressive neurological decline. [ncbi.nlm.nih.gov] ganglia and/or brainstem.12 As variability with biochemical findings may be dependent on disease activity, criteria for Leigh syndrome should be reflective of an overall [ncbi.nlm.nih.gov] Mitochondrial Complex 1 Deficiency Nuclear Type 17 It is not surprising that although a wide range of clinical symptoms is found, most patients present similarly with neurological symptoms of brainstem and/or basal ganglia [ncbi.nlm.nih.gov] dysfunction, seizures, hypotonia, periodic disease exacerbation with illness, and progressive neurological decline. [ncbi.nlm.nih.gov] ganglia and/or brainstem.12 As variability with biochemical findings may be dependent on disease activity, criteria for Leigh syndrome should be reflective of an overall [ncbi.nlm.nih.gov] Writer's Cramp Abstract A large body of evidence points to a role of basal ganglia dysfunction in the pathophysiology of dystonia, but recent studies indicate that cerebellar dysfunction [ncbi.nlm.nih.gov] These data suggest basal ganglia dysfunction as a neural basis of obsessive-compulsive symptoms (for a review, see Saxena et al 4). [jnnp.bmj.com] These data suggest basal ganglia dysfunction as a neural basis of obsessive-compulsive symptoms (for a review, see Saxena et al 4 ). [jnnp.bmj.com] Shy-Drager Syndrome […] alterations of tone suggestive of basal ganglia dysfunction. [profiles.umassmed.edu] Affected individuals present in the fifth or sixth decade with ORTHOSTASIS and bladder dysfunction; and later develop FECAL INCONTINENCE; anhidrosis; ATAXIA; IMPOTENCE; and [profiles.umassmed.edu] Hallervorden-Spatz Syndrome Signs of basal ganglias dysfunction (chorea, athetosis, and rigidity) reappear on emergence. Aspiration pneumonitis occurs easily. [accessanesthesiology.mhmedical.com] The Handbook of Clinical Neurology Vol 100: Hyperkinetic Movement Disorders discusses hyperkinetic disorders related mainly to basal ganglia dysfunction and pathology. [books.google.ro] "Those with atypical disease included all other patients with extrapyramidal dysfunction and radiographic evidence of iron accumulation in the basal ganglia. [auntminnie.com] Eye Movement Disorder BASAL GANGLIA; CEREBELLUM; and BRAIN STEM. [termsciences.fr] Supranuclear disorders are produced by dysfunction of higher order sensory and motor systems that control eye movements, including neural networks in the CEREBRAL CORTEX; [termsciences.fr] Idiopathic Basal Ganglia Calcification Type 1 ganglia on neuroimaging, 2) presence of progressive neurological dysfunction, 3) absence of a metabolic, infectious, toxic, or traumatic cause, and 4) a family history consistent [rarediseases.info.nih.gov] […] yet been found.[1][2] Last updated: 9/4/2015 Diagnosis Diagnosis The diagnosis of PFBC relies upon:[1] 1) visualization of bilateral (on both sides) calcification of the basal [rarediseases.info.nih.gov] Mitochondrial Complex 1 Deficiency Nuclear Type 23 It is not surprising that although a wide range of clinical symptoms is found, most patients present similarly with neurological symptoms of brainstem and/or basal ganglia [ncbi.nlm.nih.gov] dysfunction, seizures, hypotonia, periodic disease exacerbation with illness, and progressive neurological decline. [ncbi.nlm.nih.gov] ganglia and/or brainstem.12 As variability with biochemical findings may be dependent on disease activity, criteria for Leigh syndrome should be reflective of an overall [ncbi.nlm.nih.gov] Neuronal Ceroid Lipofuscinosis Type 5 Symptoms include 6,9: psychomotor delay/regression superimposed signs of basal ganglia and brainstem dysfunction ataxia ophthalmoplegia dystonia respiratory rhythm disturbance [radiopaedia.org] Blepharospasm Some evidence using functional neuroimaging suggests dysfunction within the basal ganglia. In rare cases, genetics have been reported to play a role. [eyewiki.aao.org] Basal ganglia dysfunction, overactivity of the seventh nerve leading to simultaneous forceful contractions of the eyelid protractors and retractors, ion channelopathy, and [eyewiki.aao.org] Biotin-Responsive Basal Ganglia Disease Molecular pathology Defects of SLC19A3, which encodes a high affinity thiamine transporter, cause biotin-responsive basal ganglia disease. [newmedicalterms.com] BBGD biotin-responsive basal ganglia disease BTBGD thiamine metabolism dysfunction syndrome 2 thiamine-responsive encephalopathy thiamine transporter-2 deficiency THMD2 Alfadhel [ghr.nlm.nih.gov] Therefore, Biotin treatment is suggested for any patient with symmetrical basal ganglia lesions and neurological problems until BBGD is excluded or a mitochondrial dysfunction [thieme-connect.com] Benign Essential Blepharospasm BEB is considered a form of focal dystonia caused by basal ganglia dysfunction. [omicsonline.org] Some evidence using functional neuroimaging suggests dysfunction within the basal ganglia. In rare cases, genetics have been reported to play a role. [eyewiki.aao.org] Basal ganglia dysfunction, overactivity of the seventh nerve leading to simultaneous forceful contractions of the eyelid protractors and retractors, ion channelopathy, and [eyewiki.aao.org] Shy-Drager Syndrome and alterations of tone suggestive of basal ganglia dysfunction. [online-medical-dictionary.org] […] alterations of tone suggestive of basal ganglia dysfunction. [selfdecode.com] Affected individuals present in the fifth or sixth decade with ORTHOSTASIS and bladder dysfunction; and later develop FECAL INCONTINENCE ; anhidrosis ; ATAXIA ; IMPOTENCE [online-medical-dictionary.org] Idiopathic Basal Ganglia Calcification Sensory stimulation for patients with basal ganglia dysfunction. [physio-pedia.com] ganglia, progressive neurologic dysfunction, absence of biochemical abnormalities, absence of an infectious, traumatic or toxic cause and a significant family history. [ncbi.nlm.nih.gov] The diagnostic criteria for Fahr’disease is 1 Bilateral calcification of the basal ganglia; Progressive neurological dysfunction; Age of onset is typically fourth or fifth [casereports.bmj.com] Proximal Myopathy with Extrapyramidal Signs TABLE 8.1 Signs and Symptoms Suggestive of Mitochondrial Disorder Neurologic Cerebral stroke-like lesions in a nonvascular pattern Basal ganglia dysfunction or mineralization [neupsykey.com] People needing five or more steps are likely to have cerebral or basal ganglia dysfunction. [patient.info] Cerebral Arteriosclerosis Basal ganglia dysfunction (Medical Encyclopedia) Brain abscess (Medical Encyclopedia) Brain surgery (Medical Encyclopedia) Central pontine myelinolysis (Medical Encyclopedia [icdlist.com] […] of the basal ganglia and related structures bradyphrenia slowing of thought processes that can occur in Parkinson disease or as a side effect of antipsychotic medications [strokecenter.org] […] middle cerebellar peduncle brachycephaly (acrocephaly) premature fusion of bilateral coronal sutures producing a foreshortened skull bradykinesia slowed movement due to dysfunction [strokecenter.org] Hereditary Hyperekplexia The Handbook of Clinical Neurology Vol 100: Hyperkinetic Movement Disorders discusses hyperkinetic disorders related mainly to basal ganglia dysfunction and pathology. [books.google.de] Corticobasal Degeneration «Specificity of the memory deficits associated with basal ganglia dysfunction». Rev. Neurol. (París) (vols. 8-9, núm. 150, págs. 580-587). Duff, K.; Paulsen, J. [cv.uoc.edu]
