scholarly journals Movement Disorders Associated With Hemochromatosis

2016 ◽  
Vol 43 (6) ◽  
pp. 801-808 ◽  
Author(s):  
Niraj Kumar ◽  
Philippe Rizek ◽  
Bekim Sadikovic ◽  
Paul C. Adams ◽  
Mandar Jog
Keyword(s):  
Movement Disorders ◽  
Genetic Disorder ◽  
Red Nucleus ◽  
Hereditary Hemochromatosis ◽  
Gene Mutations ◽  
Iron Deposition ◽  
Homozygous Mutation ◽  
The Third ◽  
London Health ◽  
The Brain

AbstractBackground:Hereditary hemochromatosis (HH) is a genetic disorder causing pathological iron deposition and functional impairment of various organs, predominantly the liver. We assessed patients with HH for the presence of movement disorders.Methods:We reviewed the charts of 616 patients with HH who attended hemochromatosis clinic at London Health Sciences Centre, London, ON, Canada, from 1988 to 2015.Results:We found three HH patients with movement disorders, without any other major systemic manifestation. One had parkinsonism, another had chorea, and the third had tremor. All three patients had evidence of iron deposition in the brain, affecting the basal ganglia in the first two, and the dentate nucleus, red nucleus, and substantia nigra in the third patient. In addition to the C282Y homozygous mutation in theHFEgene, two of our patients had non-HFEgene mutations.Conclusion:HH should be considered in the differential diagnosis of movement disorders with pathological brain iron deposition. We report for the first time chorea in a patient with HH. Non-HFEgene mutations may predispose HH patients to iron deposition in the brain.

scholarly journals Genetic Risk for Hemochromatosis is Associated with Movement Disorders

2021 ◽  
Author(s):  
Robert Loughnan ◽  
Jonathan Ahern ◽  
Cherisse Thompkins ◽  
Clare E Palmer ◽  
Leo Sugrue ◽  
...  
Keyword(s):  
Basal Ganglia ◽  
Iron Overload ◽  
Movement Disorders ◽  
Genetic Disorder ◽  
Red Nucleus ◽  
Hereditary Hemochromatosis ◽  
Iron Deposition ◽  
Uk Biobank ◽  
Increased Risk ◽  
The Impact

Hereditary hemochromatosis (HH) is an autosomal recessive genetic disorder that can lead to iron overload, causing oxidative damage to affected organs. HH type 1 is predominantly associated with homozygosity for the mutation p.C282Y. Previous case studies have reported tentative links between HH and movement disorders, e.g., Parkinson's disease, and basal ganglia abnormalities on magnetic resonance imaging. We investigated the impact of p.C282Y homozygosity: on whole brain T2 intensity differences, a measure of iron deposition, and; on measures of movement abnormalities and disorders within UK Biobank. The neuroimaging analysis (154 p.C282Y homozygotes, 595 matched controls) showed that p.C282Y homozygosity was associated with decreased T2 signal intensity in motor circuits (basal ganglia, thalamus, red nucleus, and cerebellum; Cohen's d > 1) consistent with substantial iron deposition. Across the whole UK Biobank (2,889 p.C282Y homozygotes, 496,968 controls), we found a significant enrichment for movement abnormalities in male homozygotes (OR (95% CI) = 1.82 (1.27-2.61), p=0.001), but not females (OR (95% CI) = 1.10 (0.69-1.78), p=0.71). Among the 31 p.C282Y homozygote males with a movement disorder only 7 had a concurrent HH diagnosis. These findings indicate susceptibility to iron overload in subcortical structures in p.C282Y homozygotes, and confirmed an increased risk of movement abnormalities and disorders in males. Given the effectiveness of early treatment in HH, screening for p.C282Y homozygosity in high risk individuals may offer a potential avenue to reduce iron accumulation in the brain and limit additional risk for the development of movement disorders among males.

Bilateral Striatal Necrosis with Polyneuropathy with a Novel SLC25A19 (Mitochondrial Thiamine Pyrophosphate Carrier OMIMI*606521) Mutation: Treatable Thiamine Metabolic Disorder—A Report of Two Indian Cases

2019 ◽  
Vol 50 (05) ◽  
pp. 313-317 ◽  
Author(s):  
Vykuntaraju K. Gowda ◽  
Varunvenkat M. Srinivasan ◽  
Kapil Jehta ◽  
Maya D. Bhat
Keyword(s):  
Gene Mutations ◽  
Febrile Illness ◽  
Flaccid Paralysis ◽  
Thiamine Pyrophosphate ◽  
Homozygous Mutation ◽  
Missense Variation ◽  
Magnetic Resonance Imaging Mri ◽  
The Brain ◽  
Generation Sequencing ◽  
Striatal Necrosis

Abstract Background SLC25A19 gene mutations cause Amish congenital lethal microcephaly and bilateral striatal necrosis with polyneuropathy. We are reporting two cases of bilateral striatal necrosis with polyneuropathy due to SLC25A19 gene mutations. Methods A 36-month-old boy and a 5-year-old girl, unrelated, presented with recurrent episodes of flaccid paralysis and encephalopathy following nonspecific febrile illness. Examination showed dystonia and absent deep tendon reflexes. Results Nerve conduction studies showed an axonal polyneuropathy. Magnetic resonance imaging (MRI) of the brain in both cases showed signal changes in the basal ganglia. Next-generation sequencing revealed a novel homozygous missense variation c.910G>A (p.Glu304Lys) in the SLC25A19 gene in the boy and a homozygous mutation c.869T > A (p. Leu290Gln) in the SLC25A19 gene in the girl. Mutations were validated by Sanger sequencing, and carrier statuses of parents of both children were confirmed. Both children improved with thiamine supplementation. Conclusion If any child presents with recurrent encephalopathy with flaccid paralysis, dystonia, and neuropathy, a diagnosis of bilateral striatal necrosis with polyneuropathy due to SLC25A19 mutations should be considered and thiamine should be initiated.

ADRENOCORTICAL FUNCTION IN PATIENTS WITH ACUTE SEVERE BRAIN AND PITUITARY LESION

1962 ◽  
Vol 40 (2) ◽  
pp. 254-262 ◽  
Author(s):  
H. H. Bassøe ◽  
R. Emberland ◽  
E. Glück ◽  
K. F. Støa
Keyword(s):  
Pituitary Gland ◽  
Adrenal Cortex ◽  
Artificial Ventilation ◽  
Practical Significance ◽  
Adrenocortical Function ◽  
The Third ◽  
Low Levels ◽  
Pituitary Lesion ◽  
Steroid Excretion ◽  
The Brain

ABSTRACT The steroid excretion and the plasma corticosteroids were investigated in three patients with necrosis of the brain and of the pituitary gland. The patients were kept alive by artificial ventilation. In two of the patients the neutral 17-ketosteroids and the 17-hydrocorticosteroids fell to extremely low levels. At the same time, the number of eosinophil cells showed a tendency to increase. Corticotrophin administered intravenously twice to the third patient had a stimulating effect on the adrenal cortex. The theoretical and practical significance of these findings is discussed.

Management of Glioblastoma Multiforme by Phytochemicals: Applications of Nanoparticle Based Targeted Drug Delivery System

2020 ◽  
Vol 21 ◽  
Author(s):  
Sayed Md Mumtaz ◽  
Gautam Bhardwaj ◽  
Shikha Goswami ◽  
Rajiv Kumar Tonk ◽  
Ramesh K. Goyal ◽  
...  
Keyword(s):  
Drug Delivery ◽  
Glioblastoma Multiforme ◽  
Drug Delivery System ◽  
Delivery System ◽  
Genetic Disorder ◽  
Drug Regimen ◽  
Brain Regions ◽  
Radio Therapy ◽  
Novel Drug ◽  
The Brain

: The Glioblastoma Multiforme (GBM; grade IV astrocytoma) exhort tumor of star-shaped glial cell in the brain. It is a fast-growing tumor that spreads to nearby brain regions specifically to cerebral hemispheres in frontal and temporal lobes. The etiology of GBM is unknown, but major risk factors are genetic disorder like neurofibromatosis and schwanomatosis which develop the tumor in the nervous system. The management of GBM with chemo-radio therapy leads to resistance and current drug regimen like Temozolomide (TMZ) is less efficacious. The reasons behind failure of drugs are due to DNA alkylation in cell cycle by enzyme DNA guanidase and mitochondrial dysfunction. Naturally occurring bio-active compounds from plants known as phytochemicals, serve as vital sources for anti-cancer drugs. Some typical examples include taxol analogs, vinca alkaloids such as vincristine, vinblastine, podophyllotoxin analogs, camptothecin, curcumin, aloe emodin, quercetin, berberine e.t.c. These phytochemicals often act via regulating molecular pathways which are implicated in growth and progression of cancers. However the challenges posed by the presence of BBB/BBTB to restrict passage of these phytochemicals, culminates in their low bioavailability and relative toxicity. In this review we integrated nanotech as novel drug delivery system to deliver phytochemicals from traditional medicine to the specific site within the brain for the management of GBM.

The Meditations

2017 ◽  
Author(s):  
Walter Ott
Keyword(s):  
Perceptual Experience ◽  
Developmental Reading ◽  
Basic Structure ◽  
Brain Image ◽  
The Real ◽  
The Third ◽  
Real Work ◽  
Sensible Qualities ◽  
The Brain

Despite its difference in aspiration, the Meditations preserves the basic structure of perceptual experience outlined in Descartes’s earliest works. The chapter explores Descartes’s notion of an idea and uses a developmental reading to clear up the mystery surrounding material falsity. In the third Meditation, our protagonist does not yet know enough about extension in order to be able to tell whether her idea of cold is an idea of a real feature of bodies or merely the idea of a sensation. By the time she reaches the end of her reflections, she has learned that sensible qualities are at most sensations. As in his earliest stages, Descartes believes that the real work of perceiving the geometrical qualities of bodies is done by the brain image, which he persists in calling an ‘idea,’ at least when it is the object of mental awareness.

scholarly journals A Case Report of a Prenatally Missed Mowat-Wilson Syndrome With Isolated Corpus Callosum Agenesis

2021 ◽  
Vol 8 ◽  
pp. 2329048X2110065
Author(s):  
Nesrin Şenbil ◽  
Zeynep Arslan ◽  
Derya Beyza Sayın Kocakap ◽  
Yasemin Bilgili
Keyword(s):  
Corpus Callosum ◽  
Autosomal Dominant ◽  
Genetic Disorder ◽  
Gene Mutations ◽  
Hirschsprung Disease ◽  
Agenesis Of Corpus Callosum ◽  
Whole Exome ◽  
Congenital Cardiac Anomalies ◽  
History Of ◽  
Gene Mutation Analysis

Mowat–Wilson syndrome (MWS) is an autosomal dominant genetic disorder caused by ZEB2 gene mutations, manifesting with unique facial characteristics, moderate to severe intellectual problems, and congenital malformations as Hirschsprung disease, genital and ophthalmological anomalies, and congenital cardiac anomalies. Herein, a case of 1-year-old boy with isolated agenesis of corpus callosum (IACC) in the prenatal period is presented. He was admitted postnatally with Hirschsprung disease (HSCR), hypertelorism, uplifted earlobes, deeply set eyes, frontal bossing, oval-shaped nasal tip, ‘‘M’’ shaped upper lip, opened mouth and prominent chin, and developmental delay. Hence, MWS was primarily considered and confirmed by the ZEB2 gene mutation analysis. His karyotype was normal. He had a history of having a prenatally terminated brother with similar features. Antenatally detected IACC should prompt a detailed investigation including karyotype and microarray; even if they are normal then whole exome sequencing (WES) should be done.

The effect of hypophysectomy on physiological color change in Fundulus heteroclitus

1971 ◽  
Vol 49 (1) ◽  
pp. 129-131 ◽  
Author(s):  
F. S. Abbott ◽  
M. B. Favreau
Keyword(s):  
Histological Examination ◽  
Fundulus Heteroclitus ◽  
Color Change ◽  
The Third ◽  
The Brain

Thirty-eight Fundulus heteroclitus were tested for ability to adapt to white and black backgrounds. They were then hypophysectomized and distributed individually to white and black containers. Their ability to adapt to background was determined for periods up to 2 weeks. Sixteen operated fish retained their preoperative ability to adapt; 8 became dark temporarily; 14 became persistently dark. Histological examination confirmed the result of the operation. In the third group of fish the persistent darkness was not associated with damage to specific areas of the brain although damage was more widespread in this group. It is concluded that hypophysectomy does not interfere with physiological color change in F. heteroclitus. The location of the central relays in the melanophore system could not be determined.

Three Hysterical Movement Disorders

1988 ◽  
Vol 62 (3) ◽  
pp. 979-985 ◽  
Author(s):  
Arthur S. Walters ◽  
Doris Wright ◽  
James Boudwin ◽  
Karl Jones
Keyword(s):  
Movement Disorders ◽  
Hemifacial Spasm ◽  
Older Patients ◽  
Life Experiences ◽  
Spontaneous Resolution ◽  
Older Age ◽  
Supportive Psychotherapy ◽  
Involuntary Movements ◽  
Neurological Condition ◽  
The Third

Three hysterical movement disorders are reported: a case of hysterical bilateral blepharospasm which later presented as hysterical hemifacial spasm, a case of hysterical myoclonus, and a case of hysterical parkinsonism. Two patients presented with a relative indifference to preceding life experiences that would normally have evoked considerable emotion. Two of the cases first presented at an older age and one of these older patients was a man. Two of the patients agreed to hypnotherapy and supportive psychotherapy. In both cases the “involuntary” movements disappeared during hypnosis. In the third case, there was a complete spontaneous resolution of symptoms in a neurological condition where resolution would not be expected to occur.

Experimental Third Ventriculostomy Performed Using Endovascular Surgical Techniques and Their Adaptation to Percutaneous Intradural Neuronavigation: Proof of Concept Cadaver Study

Neurosurgery ◽  
2003 ◽  
Vol 53 (2) ◽  
pp. 387-392 ◽  
Author(s):  
Michael B. Horowitz ◽  
Kamal Ramzipoor ◽  
Ajit Nair ◽  
Susan Miller ◽  
George Rappard ◽  
...  
Keyword(s):  
Third Ventricle ◽  
Surgical Techniques ◽  
Cadaver Study ◽  
Brain Parenchyma ◽  
Third Ventriculostomy ◽  
General Anesthetic ◽  
The Third ◽  
Noncommunicating Hydrocephalus ◽  
Pass Through ◽  
The Brain

Abstract OBJECTIVE Endoscopic third ventriculostomy has developed into a therapeutic alternative to shunting for the management of carefully selected patients with primarily noncommunicating hydrocephalus. This procedure, however, requires a general anesthetic and necessitates violation of the brain parenchyma and manipulation near vital neural structures to access the floor of the third ventricle. Using two cadavers and off-the-shelf angiographic catheters, we sought to determine whether it was possible to navigate a catheter, angioplasty balloon, and stent percutaneously through the subarachnoid space from the thecal sac into the third ventricle so as to perform a third ventriculostomy from below. METHODS Using biplane angiography and off-the-shelf angiographic catheters along with angioplasty balloons and stents, we were able to pass a stent coaxially from the thecal sac to and across the floor of the third ventricle so as to achieve a third ventriculostomy from below. RESULTS Coaxial catheter techniques allowed for the percutaneous insertion of a stent across the floor of the third ventricle. Ventriculostomy was confirmed by injecting contrast medium into the lateral ventricle and seeing it pass through the stent and into the chiasmatic cistern. CONCLUSION We describe the performance of third ventriculostomies in two cadavers by use of the new concept of percutaneous intradural neuronavigation. This procedure may obviate the need for general anesthetic and minimize the potential for brain and vascular injury, especially if ultimately combined with magnetic resonance fluoroscopy.

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