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Cerebellar syndrome

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https://www.readbyqxmd.com/read/28635423/inner-retinal-dystrophy-in-a-patient-with-biallelic-sequence-variants-in-brat1
#1
Julius T Oatts, Jacque L Duncan, Creig S Hoyt, Anne M Slavotinek, Anthony T Moore
BACKGROUND: Mutations in the BRCA1-associated protein required for the ataxia telangiectasia mutated (ATM) activation-1 (BRAT1) gene cause lethal neonatal rigidity and multifocal seizure syndrome characterized by rigidity and intractable seizures and a milder phenotype with intellectual disability, seizures, nonprogressive cerebellar ataxia or dyspraxia, and cerebellar atrophy. To date, nystagmus, cortical visual impairment, impairment of central vision, optic nerve hypoplasia, and optic atrophy have been described in this condition...
March 2, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28634465/abnormal-resting-state-functional-connectivity-in-progressive-supranuclear-palsy-and-corticobasal-syndrome
#2
Komal Bharti, Matteo Bologna, Neeraj Upadhyay, Maria Cristina Piattella, Antonio Suppa, Nikolaos Petsas, Costanza Giannì, Francesca Tona, Alfredo Berardelli, Patrizia Pantano
BACKGROUND: Pathological and MRI-based evidence suggests that multiple brain structures are likely to be involved in functional disconnection between brain areas. Few studies have investigated resting-state functional connectivity (rsFC) in progressive supranuclear palsy (PSP) and corticobasal syndrome (CBS). In this study, we investigated within- and between-network rsFC abnormalities in these two conditions. METHODS: Twenty patients with PSP, 11 patients with CBS, and 16 healthy subjects (HS) underwent a resting-state fMRI study...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/28626409/hiv-associated-cerebellar-dysfunction-and-improvement-with-aminopyridine-therapy-a-case-report
#3
Carolin Hoyer, Angelika Alonso, Beate Schlotter-Weigel, Michael Platten, Marc Fatar
Apart from infectious causes and cerebellar dysfunction associated with acquired immune deficiency syndrome dementia or HIV-associated neurocognitive disorder, cerebellar dysfunction in HIV-positive individuals has been ascribed to granule cell neuronopathy as well as primary cerebellar atrophy without identifiable etiology. We report the case of a patient with progressive cerebellar dysfunction as the primary manifestation of HIV infection. No symptom improvement was seen under combination antiretroviral therapy, which had been established upon diagnosis, but the patient improved rapidly under 4-aminopyridine treatment, which was recommended 1 year later...
May 2017: Case Reports in Neurology
https://www.readbyqxmd.com/read/28623115/association-of-cerebral-venous-thrombosis-and-intracranial-hypotension-review-of-3-cases
#4
Leen Sinnaeve, Ludo Vanopdenbosch, Koen Paemeleire
Cerebral venous thrombosis is a rare complication of intracranial hypotension. We describe 3 cases in which this phenomenon occurred, as a result of a lumbar puncture or due to a spontaneous cerebrospinal fluid leak. We emphasize the importance of early detection of the intracranial hypotension syndrome, the most common clinical manifestation being orthostatic headache. It is not an innocent condition as it is associated with other potential complications such as subdural hygroma/hematoma, cranial nerve palsies, cerebellar tonsillar descent, and even brainstem manifestations...
June 13, 2017: Journal of Stroke and Cerebrovascular Diseases: the Official Journal of National Stroke Association
https://www.readbyqxmd.com/read/28622494/laryngeal-neuropathy-in-adult-goats-with-copper-deficiency
#5
R F A Sousa, V M Almeida, J E Neto, C W A Nascimento, G X Medeiros, R M T Medeiros, F Riet-Correa, F S Mendonça
The aim of this study was to elucidate the cause of a neurological syndrome characterized by stridor in adult goats with clinical signs of copper deficiency. The main clinical signs consisted of apathy, emaciation, pale mucous membranes, mucous nasal discharge, dyspnea, severe achromotrichia, diffuse alopecia, torpor, ataxia, and stridor. When the goats were forced to move, the stridor increased. In a herd of 194 Toggenburg goats, 10 adult goats with clinical signs of copper deficiency were removed from the herd and divided into 2 groups: group 1, which consisted of 4 nannies and 1 buck with stridor, and group 2, which consisted of 4 nannies and 1 buck without stridor...
July 2017: Veterinary Pathology
https://www.readbyqxmd.com/read/28620870/severe-growth-deficiency-microcephaly-intellectual-disability-and-characteristic-facial-features-are-due-to-a-homozygous-qars-mutation
#6
Esther Leshinsky-Silver, Jiqiang Ling, Jiang Wu, Chana Vinkler, Keren Yosovich, Sarit Bahar, Miri Yanoov-Sharav, Tally Lerman-Sagie, Dorit Lev
Glutaminyl tRNA synthase is highly expressed in the developing fetal human brain. Mutations in the glutaminyl-tRNA synthetase (QARS) gene have been reported in patients with progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures. We have previously reported a new recessive syndrome of severe linear growth retardation, poor weight gain, microcephaly, characteristic facial features, cutaneous syndactyly of the toes, high myopia, and intellectual disability in two sisters of Ashkenazi-Jewish origin (Eur J Med Genet 2014;57(6):288-92)...
June 15, 2017: Neurogenetics
https://www.readbyqxmd.com/read/28619360/further-delineation-of-cog8-cdg-a-case-with-novel-compound-heterozygous-mutations-diagnosed-by-targeted-exome-sequencing
#7
Aram Yang, Sung Yoon Cho, Ja-Hyun Jang, Jinsup Kim, Sook Za Kim, Beom Hee Lee, Han-Wook Yoo, Dong-Kyu Jin
Congenital disorders of glycosylation (CDG) are a rapidly expanding group of inherited metabolic disorders with highly variable clinical presentations caused by deficient glycosylation of proteins and/or lipids. CDG-IIh is a very rare subgroup of CDG caused by mutations in the conserved oligomeric Golgi (COG) complex gene, COG8, and so far, only two cases have been reported in the medical literature. Here, we describe an 8-year-old Korean boy with psychomotor retardation, hypotonia, failure to thrive, elevated serum liver enzymes, microcephaly, and talipes equinovarus...
June 13, 2017: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/28615429/diagnostic-algorithm-for-relapsing-acquired-demyelinating-syndromes-in-children
#8
Yael Hacohen, Kshitij Mankad, W K Chong, Frederik Barkhof, Angela Vincent, Ming Lim, Evangeline Wassmer, Olga Ciccarelli, Cheryl Hemingway
OBJECTIVE: To establish whether children with relapsing acquired demyelinating syndromes (RDS) and myelin oligodendrocyte glycoprotein antibodies (MOG-Ab) show distinctive clinical and radiologic features and to generate a diagnostic algorithm for the main RDS for clinical use. METHODS: A panel reviewed the clinical characteristics, MOG-Ab and aquaporin-4 (AQP4) Ab, intrathecal oligoclonal bands, and Epstein-Barr virus serology results of 110 children with RDS. A neuroradiologist blinded to the diagnosis scored the MRI scans...
June 14, 2017: Neurology
https://www.readbyqxmd.com/read/28611640/visual-loss-from-choroidal-melanoma-mimicking-neurological-syndromes
#9
Karim Hammamji, Ehud Reich, Amit Arora, Victoria M L Cohen, Mandeep S Sagoo
Melanoma of the eye is rare, but can mimic a range of disorders. This report highlights 2 cases of choroidal melanoma with vision loss mimicking neurological diagnoses. The first patient is a 41-year-old white male with a known history of multiple sclerosis and a previous episode of optic neuritis in the right eye, who presented with a 6-month history of decreased vision in the same eye, and occasional photopsiae. He was treated with 2 courses of oral steroids for presumed recurrent optic neuritis. After a temporary improvement in his symptoms, his vision worsened, following which he had a head MRI, which revealed a solid intraocular mass...
January 2017: Case Reports in Neurology
https://www.readbyqxmd.com/read/28603769/longitudinal-changes-in-amyloid-positron-emission-tomography-and-volumetric-magnetic-resonance-imaging-in-the-nondemented-down-syndrome-population
#10
Patrick J Lao, Ben L Handen, Tobey J Betthauser, Iulia Mihaila, Sigan L Hartley, Annie D Cohen, Dana L Tudorascu, Peter D Bulova, Brian J Lopresti, Rameshwari V Tumuluru, Dhanabalan Murali, Chester A Mathis, Todd E Barnhart, Charles K Stone, Julie C Price, Darlynne A Devenny, Marsha R Mailick, William E Klunk, Sterling C Johnson, Bradley T Christian
INTRODUCTION: Down syndrome (DS) arises from a triplication of chromosome 21, causing overproduction of the amyloid precursor protein and predisposes individuals to early Alzheimer's disease (AD). METHODS: Fifty-two nondemented adults with DS underwent two cycles of carbon 11-labeled Pittsburgh compound B ([(11)C]PiB) and T1 weighted magnetic resonance imaging (MRI) scans 3.0 ± 0.6 years apart. Standard uptake value ratio (SUVR) images (50-70 minutes; cerebellar gray matter [GM]) and GM volumes were analyzed in standardized space (Montreal Neurological Institute space)...
2017: Alzheimer's & Dementia: Diagnosis, Assessment & Disease Monitoring
https://www.readbyqxmd.com/read/28601293/from-dizziness-to-severe-ataxia-and-dysarthria-new-cases-of-anti-ca-arhgap26-autoantibody-associated-cerebellar-ataxia-suggest-a-broad-clinical-spectrum
#11
Ulrike Wallwitz, Sebastian Brock, Antje Schunck, Brigitte Wildemann, Sven Jarius, Frank Hoffmann
In 2010, a novel anti-neuronal autoantibody, termed anti-Ca, was described in a patient with subacute cerebellar ataxia, and Rho GTPase-activating protein 26 (ARHGAP26) was identified as the target antigen. Recently, three additional cases of anti-Ca-positive cerebellar ataxia have been published. In addition to ataxia, cognitive decline and depression have been observed in some patients. Here, we report two new cases of anti-Ca-associated autoimmune cerebellar ataxia. Patient 1 presented with dizziness and acute yet mild limb and gait ataxia...
August 15, 2017: Journal of Neuroimmunology
https://www.readbyqxmd.com/read/28596805/ataxia-telangiectasia-patients-get-a-rare-chance-to-meet-the-experts-at-a-dedicated-workshop-in-ifom-the-firc-institute-of-molecular-oncology
#12
EDITORIAL
Linda Cairns
Ataxia telangiectasia (A-T) is a genetic syndrome characterized by cerebellar degeneration, telangiectasia, immunodeficiency and cancer predisposition. A-T occurs in between 1 in 40,000 and 1 in 100,000 live births. The first symptoms normally occur in early childhood when the infant begins to walk. Affected children have immunodeficiency and an increased predisposition for cancers. A-T is caused by mutations in the ATM (Ataxia Telangiectasia, Mutated) gene which encodes a protein of the same name.
2017: Ecancermedicalscience
https://www.readbyqxmd.com/read/28593454/permanent-cerebellar-degeneration-after-acute-hyperthermia-with-non-toxic-lithium-levels-a-case-report-and-review-of-literature
#13
REVIEW
Fabian H Rossi, Elisa Marie Rossi, Michael Hoffmann, Welwin Liu, Ramon Rodriguez Cruz, Natasha Antonovich, Arash Rezaei, Elizabeth Gonzalez, Maria Clara Franco, Alvaro Estevez, Florian Thomas
This was a study of a 33-year-old man with bipolar disorder treated with lithium who developed cerebellar atrophy after an event of extreme hyperthermia. Unlike previously reported cases of acute cerebellar atrophy after heat stroke, neuroleptic syndrome or lithium toxicity, this case was characterized by a chronic cerebellar atrophy that developed after sepsis-induced hyperthermia in the setting of non-toxic lithium levels. Unique to this case also was the early finding of cerebellar atrophy on MRI 2 weeks after the episode of hyperthermia, long-term neurotoxicity after the novo lithium therapy, and longest follow-up case of chronic cerebellar syndrome after hyperthermia with non-toxic lithium levels...
June 8, 2017: Cerebellum
https://www.readbyqxmd.com/read/28589944/cerebellar-hypoplasia-with-endosteal-sclerosis-is-a-polr3-related-disorder
#14
Jamal Ghoumid, Florence Petit, Odile Boute-Benejean, Frédéric Frenois, Maryse Cartigny, Clémence Vanlerberghe, Thomas Smol, Roseline Caumes, Nicolas de Roux, Sylvie Manouvrier-Hanu
CHES (cerebellar hypoplasia with endosteal sclerosis) syndrome (OMIM#213002) associates hypomyelination, cerebellar atrophy, hypogonadism and hypodontia. So far, only five patients have been described. The condition is of neonatal onset. Patients have severe psychomotor delay and moderate to severe intellectual disability. Inheritance is assumed to be autosomal recessive due to recurrence in sibs, consanguinity of parents and absence of vertical transmission. CHES syndrome is reminiscent of 4H-leukodystrophy, a recessive-inherited affection due to variations in genes encoding subunits of the RNA polymerase III (POLR3A-POLR3B-POLR1C)...
June 7, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28588791/synchronous-adie-s-syndrome-and-type-1-antineuronal-nuclear-antibody-anti-hu-related-paraneoplastic-neurological-syndromes-as-predictors-of-complete-response-in-limited-stage-small-cell-lung-cancer-a-case-report
#15
Katherina Bernadette Sreter, Blazenka Barisic, Marija Barisic Kutija, Suzana Kukulj, Miroslav Samarzija
Adie's syndrome (AS) and paraneoplastic sensorimotor neuropathy with cerebellar ataxia (PSN CA) are extremely rare, rapidly progressive, autoimmune diseases associated with the development of antibodies against neuronal-specific Hu proteins that are abnormally expressed in small-cell lung cancer (SCLC). We herein present the unique case of a 55-year-old obese woman, previous heavy smoker, who, during treatment with standard cisplatin-etoposide chemotherapy for limited-stage SCLC, developed simultaneous AS and worsening symptoms consistent with PSN CA that led to significant neurological disability and severe axonal electrophysiological pattern on nerve conduction studies...
June 2017: Molecular and Clinical Oncology
https://www.readbyqxmd.com/read/28588577/immune-reconstitution-inflammatory-syndrome-unmasking-or-worsening-aids-related-progressive-multifocal-leukoencephalopathy-a-literature-review
#16
REVIEW
Anna Fournier, Guillaume Martin-Blondel, Emmanuèle Lechapt-Zalcman, Julia Dina, Apolline Kazemi, Renaud Verdon, Emmanuel Mortier, Arnaud de La Blanchardière
Incidence of progressive multifocal leukoencephalopathy (PML) in HIV-infected patients has declined in the combined antiretroviral therapy (cART) era although a growing number of acquired immunodeficiency syndrome (AIDS)-related PML-immune reconstitution inflammatory syndromes (PML-IRIS) have been published during the same period. Therapeutic management of PML-IRIS is not consensual and mainly relies on corticosteroids. Our main aim was, in addition to provide a thoughtful analysis of published PML-IRIS cases, to assess the benefit of corticosteroids in the management of PML-IRIS, focusing on confirmed cases...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/28581210/reduced-cell-surface-levels-of-gpi-linked-markers-in-a-new-case-with-pigg-loss-of-function
#17
Jin James Zhao, Jonatan Halvardson, Alexej Knaus, Patrik Georgii-Hemming, Peter Baeck, Peter Krawitz, Ann-Charlotte Thuresson, Lars Feuk
Glycosylphosphatidylinositol (GPI) is a glycolipid that tethers more than 150 different proteins to the cell surface. Aberrations in biosynthesis of GPI anchors cause congenital disorders of glycosylation with clinical features including intellectual disability, seizures and facial dysmorphism. Here we present two siblings with intellectual disability, cerebellar hypoplasia, cerebellar ataxia, early onset seizures and minor facial dysmorphology. Using exome sequencing, we identified a homozygous nonsense variant (NM_001127178...
June 5, 2017: Human Mutation
https://www.readbyqxmd.com/read/28576936/%C3%AE-iii-spectrin-is-necessary-for-formation-of-the-constricted-neck-of-dendritic-spines-and-regulation-of-synaptic-activity-in-neurons
#18
Nadia Efimova, Farida Korobova, Michael C Stankewich, Andrew H Moberly, Donna B Stolz, Junling Wang, Anna Kashina, Minghong Ma, Tatyana Svitkina
Dendritic spines are postsynaptic structures in neurons often having a mushroom-like shape. Physiological significance and cytoskeletal mechanisms that maintain this shape are poorly understood. The spectrin-based membrane skeleton maintains the biconcave shape of erythrocytes, but whether spectrins also determine the shape of non-erythroid cells is less clear. We show that βIII spectrin in hippocampal and cortical neurons from rodent embryos of both sexes is distributed throughout the somatodendritic compartment, but is particularly enriched in the neck and base of dendritic spines and largely absent from spine heads...
June 2, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28570324/neurologic-complications-of-lymphoma-leukemia-and-paraproteinemias
#19
Michelle L Mauermann
PURPOSE OF REVIEW: This article reviews the spectrum of neurologic complications associated with lymphoma, leukemia, and paraproteinemic disorders. While leptomeningeal metastasis is the most common complication of lymphoma and leukemia and peripheral neuropathy is the most common complication of paraproteinemic disorders, clinicians need to be familiar with the diverse neurologic complications of these disorders. RECENT FINDINGS: Lymphomatous nervous system involvement can be difficult to diagnose, especially when it is the presenting symptom...
June 2017: Continuum: Lifelong Learning in Neurology
https://www.readbyqxmd.com/read/28567027/transient-vestibulopathy-in-wallenberg-s-syndrome-pathologic-analysis
#20
Jorge C Kattah, Ali S Saber Tehrani, Sigrun Roeber, Meena Gujrati, Sarah E Bach, David E Newman Toker, Ari M Blitz, Anja K E Horn
OBJECTIVE: To report an unusual lateral medullary stroke (LMS) associated with transient unidirectional horizontal, nystagmus, and decreased horizontal vestibulo-ocular reflex (h-VOR) gain that mimicked a peripheral vestibulopathy. MRI suggested involvement of caudal medial vestibular nucleus (MVN); however, the rapid resolution of the nystagmus and improved h-VOR gain favored transient ischemia without infarction. Decreased h-VOR gain is expected with peripheral vestibular lesions within the labyrinth or superior vestibular nerve; less frequently lateral pontine strokes involving the vestibular root entry, the vestibular fascicle, or neurons within the MVN may be responsible...
2017: Frontiers in Neurology
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