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Cerebellar syndrome

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https://www.readbyqxmd.com/read/28918510/acquired-hepatocerebral-degeneration-ahd-a-peculiar-neurological-impairment-in-advanced-chronic-liver-disease
#1
A Pigoni, F Iuculano, C Saetti, L Airaghi, L Burdick, S Spreafico, M Curioni, R Lombardi, L Valenti, A L Fracanzani, S Fargion
We discuss the case of a rare and often unrecognized neurologic syndrome, called Acquired Hepatocerebral Degeneration (AHD), observed in patients with advanced liver disease and portosystemic shunts. The clinical manifestations can be very heterogeneous and in our case included a combination of cerebellar and extrapyramidal signs, arisen in a period of few days. Brain Magnetic Resonance Imaging (MRI) showed, in T1-weighted images, diffuse bilateral hyper intensities in basal ganglia and biemispheric brain and cerebellar cortices, resembling paramagnetic deposits...
September 16, 2017: Metabolic Brain Disease
https://www.readbyqxmd.com/read/28918022/antisense-oligonucleotides-reduce-rna-foci-in-spinocerebellar-ataxia-36-patient-ipscs
#2
Kosuke Matsuzono, Keiko Imamura, Nagahisa Murakami, Kayoko Tsukita, Takuya Yamamoto, Yuishin Izumi, Ryuji Kaji, Yasuyuki Ohta, Toru Yamashita, Koji Abe, Haruhisa Inoue
Spinocerebellar ataxia type 36 is a late-onset, slowly progressive cerebellar syndrome with motor neuron degeneration that is caused by expansions of a hexanucleotide repeat (GGCCTG) in the noncoding region of NOP56 gene, with a histopathological feature of RNA foci formation in postmortem tissues. Here, we report a cellular model using the spinocerebellar ataxia type 36 patient induced pluripotent stem cells (iPSCs). We generated iPSCs from spinocerebellar ataxia type 36 patients and differentiated them into neurons...
September 15, 2017: Molecular Therapy. Nucleic Acids
https://www.readbyqxmd.com/read/28915903/a-quantitative-assessment-of-the-evolution-of-cerebellar-syndrome-in-children-with-phosphomannomutase-deficiency-pmm2-cdg
#3
Natalia Lourdes Serrano, Victor De Diego, Daniel Cuadras, Antonio F Martinez Monseny, Ramón Velázquez-Fragua, Laura López, Ana Felipe, Luis G Gutiérrez-Solana, Alfons Macaya, Belén Pérez-Dueñas, Mercedes Serrano
BACKGROUND: We aim to delineate the progression of cerebellar syndrome in children with phosphomannomutase-deficiency (PMM2-CDG) using the International Cooperative Ataxia Rating Scale (ICARS). We sought correlation between cerebellar volumetry and clinical situation. We prospectively evaluated PMM2-CDG patients aged from 5 to 18 years through ICARS at two different time points set apart by at least 20 months. We reviewed available MRIs and performed volumetric analysis when it was possible...
September 15, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28915150/tics-and-tourette-a-clinical-pathophysiological-and-etiological-review
#4
Russell C Dale
PURPOSE OF REVIEW: Describe developments in the etiological understanding of Tourette syndrome. RECENT FINDINGS: Tourette syndrome is a complex heterogenous clinical syndrome, which is not a unitary entity. Pathophysiological models describe gamma-aminobutyric acid-ergic-associated disinhibition of cortico-basal ganglia motor, sensory and limbic loops. MRI studies support basal ganglia volume loss, with additional white matter and cerebellar changes. Tourette syndrome cause likely involves multiple vulnerability genes and environmental factors...
September 14, 2017: Current Opinion in Pediatrics
https://www.readbyqxmd.com/read/28911151/expanding-the-phenotypic-and-genotypic-landscape-of-autoimmune-polyendocrine-syndrome-type-1
#5
Elizaveta M Orlova, Leila S Sozaeva, Maria A Kareva, Bergithe E Oftedal, Anette S B Wolff, Lars Breivik, Ekaterina Y Zakharova, Olga N Ivanova, Olle Kämpe, Ivan I Dedov, Per M Knappskog, Valentina A Peterkova, Eystein S Husebye
Context: Autoimmune polyendocrine syndrome type 1 (APS-1) is a rare monogenic autoimmune disease caused by mutations in the autoimmune regulator (AIRE) gene and characterized by chronic mucocutaneous candidiasis, hypoparathyroidism, and primary adrenal insufficiency. Comprehensive characterizations of large patient cohorts are rare. Objective: To perform an extensive clinical, immunological, and genetic characterization of a large nationwide Russian APS-1 cohort...
September 1, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28904449/james-wenceslaus-papez-his-circuit-and-emotion
#6
Kalyan B Bhattacharyya
James Papez worked on the anatomical substrates of emotion and described a circuit, mainly composed of the hippocampus, thalamus and cingulum, and published his observations in 1937. However, such an idea existed before him, as evidenced by the rudimentary indications from Paul Broca, and Paul MacLean added some other structures like, septum, amygdala, and hypothalamus in its ambit and called it the limbic system. Paul Ivan Yakovlev, proposed a circuit which also referred to orbitofrontal, insular, anterior temporal lobe, and other nuclei of thalamus...
July 2017: Annals of Indian Academy of Neurology
https://www.readbyqxmd.com/read/28893945/zfp423-znf423-regulates-cell-cycle-progression-the-mode-of-cell-division-and-the-dna-damage-response-in-purkinje-neuron-progenitors
#7
Filippo Casoni, Laura Croci, Camilla Bosone, Roberta D'Ambrosio, Aurora Badaloni, Davide Gaudesi, Valeria Barili, Justyna R Sarna, Lino Tessarollo, Ottavio Cremona, Richard Hawkes, Søren Warming, G Giacomo Consalez
The Zfp423/ZNF423 gene encodes a 30-Zn-finger transcription factor involved in key developmental pathways. While null Zfp423 mutants develop cerebellar malformations, the underlying mechanism remains unknown. ZNF423 mutations have been associated to Joubert Syndrome, a ciliopathy causing cerebellar vermis hypoplasia and ataxia. ZNF423 participates in the DNA damage response, raising questions regarding its role as a regulator of neural progenitor cell cycle progression in cerebellar development. To characterize in vivo the function of ZFP423 in neurogenesis, we analyzed allelic murine mutants in which distinct functional domains are deleted...
September 11, 2017: Development
https://www.readbyqxmd.com/read/28887803/psychosis-in-spinocerebellar-ataxias-a-case-series-and-study-of-tyrosine-hydroxylase-in-substantia-nigra
#8
Katherine W Turk, Margaret E Flanagan, Samuel Josephson, C Dirk Keene, Suman Jayadev, Thomas D Bird
Spinocerebellar ataxias are a genetically heterogeneous group of degenerative diseases typically characterized by progressive ataxia and to various degrees, neuropathy, amyotrophy, and ocular abnormalities. There is increasing evidence for non-motor manifestations associated with cerebellar syndromes including cognitive and psychiatric features. We studied a retrospective clinical case series of eight subjects with spinocerebellar ataxias (SCAs) 2, 3, 7, and 17, all displaying features of psychosis, and also measured tyrosine hydroxylase (TH) staining of the substantia nigra (SN) at autopsy, among four of the subjects...
September 8, 2017: Cerebellum
https://www.readbyqxmd.com/read/28878663/subacute-cerebellar-degeneration-due-to-a-paraneoplastic-phenomenon-associated-with-metastatic-merkel-cell-carcinoma-a-case-report
#9
Angelos Sharobeam, Jason Ray, Juliana Dong, Victor Chong
PURPOSE: The aim of this article is to illustrate the diagnostic challenges and management of paraneoplastic neurological syndromes in Merkel cell carcinoma. MATERIALS AND METHODS: We describe a previously functionally independent 85-year-old woman who presented with subacute onset of dizziness and gait ataxia in the setting of metastatic Merkel cell carcinoma. RESULTS: Diagnosis was made on biopsy after positron emission tomography imaging revealed increased metabolic activity in 2 left inguinofemoral lymph nodes...
May 2017: Case Reports in Oncology
https://www.readbyqxmd.com/read/28878050/antibody-associated-cns-syndromes-without-signs-of-inflammation-in-the-elderly
#10
Domingo Escudero, Mar Guasp, Helena Ariño, Carles Gaig, Eugenia Martínez-Hernández, Josep Dalmau, Francesc Graus
OBJECTIVE: To report the CNS syndromes of patients ≥60 years of age with antibodies against neuronal surface antigens but no evidence of brain MRI and CSF inflammatory changes. METHODS: This was a retrospective clinical analysis of patients with antibodies against neuronal surface antigens who fulfilled 3 criteria: age ≥60 years, no inflammatory abnormalities in brain MRI, and no CSF pleocytosis. Antibodies were determined with reported techniques. RESULTS: Among 155 patients ≥60 years of age with neurologic syndromes related to antibodies against neuronal surface antigens, 35 (22...
September 6, 2017: Neurology
https://www.readbyqxmd.com/read/28863961/cerebellopathy-secondary-to-anti-peroxidase-antibody-mediated-toxicity-a-special-case-of-hashimoto-encephalopathy
#11
Gary Álvarez Bravo, Antonio Yusta Izquierdo, Guilherme Carvalho Monteiro, Irene Sánchez
OBJECTIVE: The aim of this case report is to highlight the importance of recognizing uncommon causes of cerebellar involvement. CASE PRESENTATION: A 45-year-old woman with no medical history who presented gait instability that appears suddenly and evolves rapidly in two weeks, causing frequent falls. Neurological examination revealed an inability to walk due to severe ataxia, accompanied by global hypotonia, appendicular dysmetria, opsoclonus and dysarthria. We studied this patient with cerebellar syndrome, obtaining as relevant findings global cerebellar atrophy in MRI (magnetic resonance imaging) and especially, considerably elevated levels of antibodies against thyroid peroxidase (TPO)...
August 19, 2017: Journal of Neuroimmunology
https://www.readbyqxmd.com/read/28862551/isolated-abducens-nerve-palsy-associated-with-subarachnoid-hemorrhage-a-localizing-sign-of-ruptured-posterior-inferior-cerebellar-artery-aneurysms
#12
Jan-Karl Burkhardt, Ethan A Winkler, George F Lasker, John K Yue, Michael T Lawton
OBJECTIVE Compressive cranial nerve syndromes can be useful bedside clues to the diagnosis of an enlarging intracranial aneurysm and can also guide subsequent evaluation, as with an acute oculomotor nerve (cranial nerve [CN] III) palsy that is presumed to be a posterior communicating artery aneurysm and a surgical emergency until proven otherwise. The CN VI has a short cisternal segment from the pontomedullary sulcus to Dorello's canal, remote from most PICA aneurysms but in the hemodynamic pathway of a rupturing PICA aneurysm that projects toward Dorello's canal...
September 1, 2017: Journal of Neurosurgery
https://www.readbyqxmd.com/read/28860541/functional-validation-of-novel-mks3-tmem67-mutations-in-coach-syndrome
#13
So-Hyun Lee, Tai-Seung Nam, Wenting Li, Jung Ha Kim, Woong Yoon, Yoo-Duk Choi, Kun-Hee Kim, Hua Cai, Min Jung Kim, Changsoo Kim, Hyon E Choy, Nacksung Kim, Kee Oh Chay, Myeong-Kyu Kim, Seok-Yong Choi
COACH syndrome is an autosomal recessive developmental disorder, a subtype of Joubert syndrome and related disorders, characterized by cerebellar vermis hypoplasia, oligophrenia, ataxia, coloboma, and hepatic fibrosis. Although mutations in TMEM67 (transmembrane protein 67)/MKS3 (Meckel-Gruber syndrome, type 3) were reported to cause COACH syndrome, this causality has not verified by functional studies. In a 20-year-old Korean man, we found cerebellar ataxia, isolated elevation in serum γ-glutamyl transpeptidase (γ-GTP) activity, oligophrenia, the molar tooth sign (MTS) in the brain MR images and congenital hepatic fibrosis (CHF)...
August 31, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28856174/a-rare-syndrome-of-grid2-deletion-in-2-siblings
#14
Aravindhan Veerapandiyan, Stephanie Enner, Venkatraman Thulasi, Xue Ming
The Glutamate receptor, ionotropic, delta 2 gene codes for an ionotropic glutamate delta-2 receptor, which is selectively expressed in cerebellar Purkinje cells, and facilitates cerebellar synapse organization and transmission. The phenotype associated with the deletion of Glutamate receptor, ionotropic, delta 2 gene in humans was initially defined in 2013. In this case report, the authors describe 2 brothers who presented with developmental delay, tonic upward gaze, nystagmus, oculomotor apraxia, hypotonia, hyperreflexia, and ataxia...
January 2017: Child neurology open
https://www.readbyqxmd.com/read/28852709/ataxia-pancytopenia-syndrome-with-samd9l-mutations
#15
Sorina Gorcenco, Jonna Komulainen-Ebrahim, Karin Nordborg, Maria Suo-Palosaari, Sten Andréasson, Johanna Krüger, Christer Nilsson, Ulrika Kjellström, Elisa Rahikkala, Dominik Turkiewicz, Mikael Karlberg, Lars Nilsson, Jörg Cammenga, Ulf Tedgård, Josef Davidsson, Johanna Uusimaa, Andreas Puschmann
OBJECTIVE: We describe the neurologic, neuroradiologic, and ophthalmologic phenotype of 1 Swedish and 1 Finnish family with autosomal dominant ataxia-pancytopenia (ATXPC) syndrome and SAMD9L mutations. METHODS: Members of these families with germline SAMD9L c.2956C>T, p.Arg986Cys, or c.2672T>C, p.Ile891Thr mutations underwent structured interviews and neurologic and ophthalmologic examinations. Neuroimaging was performed, and medical records were reviewed...
October 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28844105/the-floccular-syndrome-dynamic-changes-in-eye-movements-and-vestibulo-ocular-reflex-in-isolated-infarction-of-the-cerebellar-flocculus
#16
Dario Andres Yacovino, Manuel Perez Akly, Leonel Luis, David S Zee
The cerebellar flocculus is a critical structure involved in the control of eye movements. Both static and dynamic abnormalities of the vestibulo-ocular reflex (VOR) have been described in animals with experimental lesions of the flocculus/paraflocculus complex. In humans, lesions restricted to the flocculus are rare so they can become an exceptional model to contrast with the clinical features in experimental animals or in patients with more generalized cerebellar diseases. Here, we examined a 67-year-old patient with an acute vestibular syndrome due to an isolated infarct of the right flocculus...
August 26, 2017: Cerebellum
https://www.readbyqxmd.com/read/28840067/surgical-treatment-of-cerebellar-hemangioblastomas
#17
A Cervio, J F Villalonga, R Mormandi, S Condomí Alcorta, G Sevlever, J Salvat
BACKGROUND: Hemangioblastomas (HBL) are uncommon tumors of the central nervous system (CNS), corresponding to 1-2.5% of all intracranial tumors. They can present sporadically or in patients with von Hippel-Lindau (VHL) disease and are most often located in the cerebellum, brainstem, and spinal cord. VHL disease is a multiple neoplasia syndrome inherited in an autosomal dominant fashion and caused by a VHL suppressor gene deletion. We present our experience in the management of patients with cerebellar HBL...
2017: Surgical Neurology International
https://www.readbyqxmd.com/read/28830375/a-homozygous-missense-variant-in-hsd17b4-identified-in-a-consanguineous-chinese-han-family-with-type-ii-perrault-syndrome
#18
Kui Chen, Ke Yang, Su-Shan Luo, Chen Chen, Ying Wang, Yi-Xuan Wang, Da-Ke Li, Yu-Jie Yang, Yi-Lin Tang, Feng-Tao Liu, Jian Wang, Jian-Jun Wu, Yi-Min Sun
BACKGROUND: Perrault syndrome is a rare multisystem disorder that manifests with sensorineural hearing loss in both sexes, primary ovarian insufficiency in females and neurological features. The syndrome is heterogeneous both genetically and phenotypically. CASE PRESENTATION: We reported a consanguineous family (two affected sisters) with Perrault syndrome. The proband had the characteristics of Perrault syndrome: ovarian dysgenesis, bilateral hearing loss and obvious neurological signs...
August 23, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28826917/missense-mutation-in-the-itpr1-gene-presenting-with-ataxic-cerebral-palsy-description-of-an-affected-family-and-literature-review
#19
Joyutpal Das, James Lilleker, Hannah Shereef, John Ealing
The inositol 1,4,5-triphosphate receptor type 1 (ITPR1) gene on chromosome 3 belongs to a family of genes encoding intracellular calcium channel proteins. Such channels are located primarily within the endoplasmic reticular membrane and release Ca(2+), an intracellular messenger, which governs numerous intracellular and extracellular functions. We report a family with infantile-onset cerebellar ataxia with delayed motor development and intellectual disability caused by a heterozygous c.805C>T, p.Arg269Trp missense mutation in ITPR1...
July 8, 2017: Neurologia i Neurochirurgia Polska
https://www.readbyqxmd.com/read/28820624/retinopathy-and-optic-atrophy-expanding-the-phenotypic-spectrum-of-pathogenic-variants-in-the-aars2-gene
#20
Jason H Peragallo, Stephanie Keller, Marjo S van der Knaap, Bruno P Soares, Suma P Shankar
BACKGROUND: Optic atrophy may be the sequela of optic nerve injury due to any insult, including isolated and syndromic genetic diseases. Alanyl-tRNA synthetase 2 (AARS2) pathogenic variants have been reported to cause leukodystrophy with ovarian failure, and cardiomyopathy (#615889) as well as combined oxidative phosphorylation deficiency-8 (#614096). We report a young child who presented with decreased vision due to optic atrophy and was found to harbor missense variants in the AARS2 gene expanding the phenotypic expression of the AARS2 gene...
August 18, 2017: Ophthalmic Genetics
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