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https://www.readbyqxmd.com/read/29666464/an-adolescence-onset-male-leukoencephalopathy-with-remarkable-cerebellar-atrophy-and-novel-compound-heterozygous-aars2-gene-mutations-a-case-report
#1
Qing Dong, Ling Long, Yan-Yu Chang, Yan-Jun Lin, Mei Liu, Zheng-Qi Lu
Mutations in the mitochondrial alanyl-transfer (t)RNA synthetase 2 (AARS2; OMIM 612035) have been linked to leukoencephalopathy recently. Until now, there have been only 13 cases reported in the literature. Hence, the clinical and genetic characteristics of this disease are not fully understood. Here, we reported an adolescence-onset male leukoencephalopathy patient characterized by progressive limb tremor at the age of 17 years. He had no signs of a cardiomyopathy. Magnetic resonance imaging scanning demonstrated severe cerebellar atrophy and white matter abnormalities involving descending tracts...
April 17, 2018: Journal of Human Genetics
https://www.readbyqxmd.com/read/29656927/pontocerebellar-hypoplasia-type-1-for-the-neuropediatrician-genotype-phenotype-correlations-and-diagnostic-guidelines-based-on-new-cases-and-overview-of-the-literature
#2
I Ivanov, D Atkinson, I Litvinenko, L Angelova, S Andonova, H Mumdjiev, I Pacheva, M Panova, R Yordanova, V Belovejdov, A Petrova, M Bosheva, T Shmilev, A Savov, A Jordanova
Pontocerebellar hypoplasia type 1 (PCH1) is a major cause of non-5q spinal muscular atrophy (SMA). We screened 128 SMN1-negative SMA patients from Bulgaria for a frequent mutation -p.G31A in EXOSC3, and performed a literature review of all genetically verified PCH1 cases. Homozygous p.G31A/EXOSC3 mutation was identified in 14 Roma patients, representing three fourths of all our SMN1-negative Roma SMA cases. The phenotype of the p.G31A/EXOSC3 homozygotes was compared to the clinical presentation of all reported to date genetically verified PCH1 cases...
April 3, 2018: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/29655659/a-v1143f-mutation-in-the-neuronal-enriched-isoform-2-of-the-pmca-pump-is-linked-with-ataxia
#3
Mattia Vicario, Ginevra Zanni, Francesca Vallese, Filippo Santorelli, Alessandro Grinzato, Domenico Cieri, Paola Berto, Martina Frizzarin, Raffaele Lopreiato, Francesco Zonta, Stefania Ferro, Michele Sandre, Oriano Marin, Maria Ruzzene, Enrico Bertini, Giuseppe Zanotti, Marisa Brini, Tito Calì, Ernesto Carafoli
The fine regulation of intracellular calcium is fundamental for all eukaryotic cells. In neurons, Ca2+ oscillations govern the synaptic development, the release of neurotransmitters and the expression of several genes. Alterations of Ca2+ homeostasis were found to play a pivotal role in neurodegenerative progression. The maintenance of proper Ca2+ signaling in neurons demands the continuous activity of Ca2+ pumps and exchangers to guarantee physiological cytosolic concentration of the cation. The plasma membrane Ca2+ ATPases (PMCA pumps) play a key role in the regulation of Ca2+ handling in selected sub-plasma membrane microdomains...
April 12, 2018: Neurobiology of Disease
https://www.readbyqxmd.com/read/29651356/cerebellar-medulloblastoma-in-middle-to-late-adulthood
#4
Majid Aljoghaiman, Mahmoud S Taha, Marwah M Abdulkader
Medulloblastoma is a malignant brain tumor that is typically seen in children. It is classified as an embryonal tumor, classically located within the posterior fossa. When it involves the fourth ventricle, the patient commonly presents with signs and symptoms of raised intracranial pressure secondary to obstructive hydrocephalus. It is exceedingly rare for Medulloblastoma to occur in middle and late adulthood. In this paper, we present a case of a 51-year-old man who presented with a posterior fossa mass that was diagnosed later as Medulloblastoma...
2018: Case Reports in Pathology
https://www.readbyqxmd.com/read/29615062/kars-related-diseases-progressive-leukoencephalopathy-with-brainstem-and-spinal-cord-calcifications-as-new-phenotype-and-a-review-of-literature
#5
Anna Ardissone, Davide Tonduti, Andrea Legati, Eleonora Lamantea, Rita Barone, Imen Dorboz, Odile Boespflug-Tanguy, Gabriella Nebbia, Marco Maggioni, Barbara Garavaglia, Isabella Moroni, Laura Farina, Anna Pichiecchio, Simona Orcesi, Luisa Chiapparini, Daniele Ghezzi
BACKGROUND: KARS encodes lysyl- transfer ribonucleic acid (tRNA) synthetase, which catalyzes the aminoacylation of tRNA-Lys in the cytoplasm and mitochondria. Eleven families/sporadic patients and 16 different mutations in KARS have been reported to date. The associated clinical phenotype is heterogeneous ranging from early onset encephalopathy to isolated peripheral neuropathy or nonsyndromic hearing impairment. Recently additional presentations including leukoencephalopathy as predominant cerebral involvement or cardiomyopathy, isolated or associated with muscular and cerebral involvement, have been reported...
April 4, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29603094/herc1-ubiquitin-ligase-is-required-for-normal-axonal-myelination-in-the-peripheral-nervous-system
#6
Sara Bachiller, María Angustias Roca-Ceballos, Irene García-Domínguez, Eva María Pérez-Villegas, David Martos-Carmona, Miguel Ángel Pérez-Castro, Luis Miguel Real, José Luis Rosa, Lucía Tabares, José Luis Venero, José Ángel Armengol, Ángel Manuel Carrión, Rocío Ruiz
A missense mutation in HERC1 provokes loss of cerebellar Purkinje cells, tremor, and unstable gait in tambaleante (tbl) mice. Recently, we have shown that before cerebellar degeneration takes place, the tbl mouse suffers from a reduction in the number of vesicles available for release at the neuromuscular junction (NMJ). The aim of the present work was to study to which extent the alteration in HERC1 may affect other cells in the nervous system and how this may influence the motor dysfunction observed in these mice...
March 30, 2018: Molecular Neurobiology
https://www.readbyqxmd.com/read/29588240/superficial-temporal-artery-superior-cerebellar-artery-bypass-with-anterior-petrosectomy-technical-case-report
#7
Masaaki Hokari, Katsuyuki Asaoka, Daisuke Shimbo, Kazuki Uchida, Koji Itamoto
BACKGROUND: Superficial temporal artery (STA) -to- superior cerebellar artery (SCA) bypass is associated with a relatively high risk of surgical complications, such as hematoma and/or edema caused by temporal lobe retraction. Therefore, the right side is typically used to avoid retraction of the left temporal lobe. In this report, we present a case of left STA-SCA bypass with anterior petrosectomy to avoid retraction of dominant side temporal lobe and describe the surgical technique in detail...
March 24, 2018: World Neurosurgery
https://www.readbyqxmd.com/read/29571861/a-diagnostic-decision-tree-for-adult-cerebellar-ataxia-based-on-pontine-magnetic-resonance-imaging
#8
Miwa Higashi, Kokoro Ozaki, Takaaki Hattori, Takashi Ishii, Kazumasa Soga, Nozomu Sato, Makoto Tomita, Hidehiro Mizusawa, Kinya Ishikawa, Takanori Yokota
Cerebellar ataxias (CAs) are heterogeneous conditions often require differential diagnosis. This study aimed to establish a diagnostic decision tree for differentiating CAs based on pontine MRI findings. Two-hundred and two consecutive ataxia patients were clinically classified into 4 groups: (1) spinocerebellar ataxia (SCA) with brainstem involvement (SCA-BSI), (2) Pure cerebellar SCA, (3) cerebellar dominant multiple system atrophy (MSA-c), and (4) Other CA. Signal intensity in pons was graded into 3 types: hot cross bun sign (HCBS), pontine midline linear T2-hyperintensity (PMH), or normal...
April 15, 2018: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/29569086/pediatric-cerebellar-pilocytic-astrocytoma-presenting-with-spontaneous-intratumoral-hemorrhage
#9
REVIEW
Carmine Antonio Donofrio, Filippo Gagliardi, Marcella Callea, Camillo Ferrari da Passano, Maria Rosa Terreni, Andrea Cavalli, Alfio Spina, Stefania Acerno, Michele Bailo, Samer K Elbabaa, Pietro Mortini
Pilocytic astrocytomas (PAs) are benign glial tumors and one of the most common childhood posterior fossa tumors. Spontaneous intratumoral hemorrhage in PAs occurs occasionally, in about 8-20% of cases. Cerebellar hemorrhages in pediatric population are rare and mainly due to head injuries, rupture of vascular malformations, infections, or hematological diseases. We have investigated the still controversial and unclear pathophysiology underlying intratumoral hemorrhage in PAs. Bleeding in low-grade tumors might be related to structural abnormalities and specific angio-architecture of tumor vessels, such as degenerative mural hyalinization, "glomeruloid" endothelial proliferation, presence of encased micro-aneurysms, and glioma-induced neoangiogenesis...
March 22, 2018: Neurosurgical Review
https://www.readbyqxmd.com/read/29568536/cerebellar-cognitive-affective-syndrome-insights-from-joubert-syndrome
#10
Chelsea L Hickey, Janet C Sherman, Paula Goldenberg, Amy Kritzer, Paul Caruso, Jeremy D Schmahmann, Mary K Colvin
Background: Joubert syndrome (JS) is a rare, autosomal recessively inherited genetic disorder characterized morphologically by unique developmental malformations of the cerebellum and brainstem (the molar tooth sign), and clinically by impaired motor functions and intellectual disability. Patients with JS often face multiple cognitive challenges, but the neuropsychological profile of this condition has not been well characterized. Methods: We performed comprehensive neurological and neuropsychological evaluations in three adult brothers with JS, ages 32, 27, and 25 years...
2018: Cerebellum & Ataxias
https://www.readbyqxmd.com/read/29565222/spontaneous-intracranial-vertebral-artery-dissection-with-acute-ischemic-stroke-high-resolution-magnetic-resonance-imaging-findings
#11
Soo Young Yun, Young Jin Heo, Hae Woong Jeong, Jin Wook Baek, Hye Jung Choo, Jung Hwa Seo, Sung Tae Kim, Ji Young Lee, Sung Chul Jin
Background Acute ischemic stroke (AIS) more frequently develops in patients with intracranial vertebral artery dissection (VAD) than extracranial VAD, and is associated with possible poor clinical outcomes. The aim of this study is to compare high-resolution magnetic resonance imaging (HR-MRI) findings and clinical features of VAD with and without AIS. Methods Twenty-nine lesions from 27 patients (15 male and 12 female patients; age range = 28-73 years) who underwent diffusion MRI and 3T HR-MRI within seven days were included...
January 1, 2018: Neuroradiology Journal
https://www.readbyqxmd.com/read/29565219/multiple-sclerosis-high-prevalence-of-the-central-vein-sign-in-white-matter-lesions-on-susceptibility-weighted-images
#12
Gianvincenzo Sparacia, Francesco Agnello, Angelo Gambino, Martina Sciortino, Massimo Midiri
Purpose The aim of this study was to determine the occurrence and distribution of the 'central vein' sign in white matter lesions on susceptibility-weighted magnetic resonance images in patients with multiple sclerosis (MS) and cerebral small vessel disease (CSVD). Materials and methods T2-weighted and fluid-attenuated inversion recovery magnetic resonance images of 19 MS patients and 19 patients affected by CSVD were analysed for the presence and localisation of focal hyperintense white matter lesions. Lesions were subdivided into periventricular or non-periventricular (juxtacortical, subcortical, deep white matter and cerebellar) distributed...
January 1, 2018: Neuroradiology Journal
https://www.readbyqxmd.com/read/29564144/spinocerebellar-ataxia-17-full-phenotype-in-a-41-cag-caa-repeats-carrier
#13
Paola Origone, Fabio Gotta, Merit Lamp, Lucia Trevisan, Alessandro Geroldi, Davide Massucco, Matteo Grazzini, Federico Massa, Flavia Ticconi, Matteo Bauckneht, Roberta Marchese, Giovanni Abbruzzese, Emilia Bellone, Paola Mandich
Background: Spinocerebellar ataxia 17 (SCA17) is one of the most heterogeneous forms of autosomal dominant cerebellar ataxias with a large clinical spectrum which can mimic other movement disorders such as Huntington disease (HD), dystonia and parkinsonism. SCA17 is caused by an expansion of CAG/CAA repeat in the Tata binding protein ( TBP ) gene. Normal alleles contain 25 to 40 CAG/CAA repeats, alleles with 50 or greater CAG/CAA repeats are pathological with full penetrance. Alleles with 43 to 49 CAG/CAA repeats were also reported and their penetrance is estimated between 50 and 80%...
2018: Cerebellum & Ataxias
https://www.readbyqxmd.com/read/29560583/treatment-with-chenodeoxycholic-acid-in-cerebrotendinous-xanthomatosis-clinical-neurophysiological-and-quantitative-brain-structural-outcomes
#14
Maria Del Mar Amador, Marion Masingue, Rabab Debs, Foudil Lamari, Vincent Perlbarg, Emmanuel Roze, Bertrand Degos, Fanny Mochel
BACKGROUND: Cerebrotendinous xanthomatosis (CTX) is a rare neurodegenerative disease related to sterols metabolism. It affects both central and peripheral nervous systems but treatment with chenodeoxycholic acid (CDCA) has been reported to stabilize clinical scores and improve nerve conduction parameters. Few quantitative brain structural studies have been conducted to assess the effect of CDCA in CTX. METHODS AND RESULTS: We collected retrospectively clinical, neurophysiological, and quantitative brain structural data in a cohort of 14 patients with CTX treated by CDCA over a mean period of 5 years...
March 20, 2018: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29544888/clinical-phenotype-of-hereditary-spastic-paraplegia-due-to-kif1c-gene-mutations-across-life-span
#15
Didem Yücel-Yılmaz, Emrah Yücesan, Dilek Yalnızoğlu, Kader Karlı Oğuz, Mahmut Şamil Sağıroğlu, Uğur Özbek, Esra Serdaroğlu, Başar Bilgiç, Sevim Erdem, Sibel Aylin Uğur İşeri, Haşmet Hanağası, Hakan Gürvit, Rıza Köksal Özgül, Ali Dursun
Hereditary spastic paraplegias (HSPs) are a group of genetic disorders resulting in pyramidal tract impairment, predominantly in lower limbs. KIF1C gene has recently been identified as one of the genetic causes of HSP and associated with pure or complicated HSP. We present three patients with complicated HSP from two unrelated families, who had early onset progressive cerebellar signs and developed pyramidal tract signs during follow-up. Whole exome sequencing in these patients followed by segregation analysis identified novel truncating KIF1C mutations (c...
March 12, 2018: Brain & Development
https://www.readbyqxmd.com/read/29535107/diagnosis-of-sporadic-neurofibromatosis-type-2-in-the-paediatric-population
#16
Geetha Anand, Grace Vasallo, Maria Spanou, Saumya Thomas, Michael Pike, Didu Sanduni Kariyawasam, Sanjay Mehta, Allyson Parry, Juliette Durie-Gair, James Nicholson, Karine Lascelles, Vanessa Everett, Frances Mary Gibbon, Nicola Jarvis, John Elston, Dafydd Gareth Evans, Dorothy Halliday
OBJECTIVE: Onset of symptoms in severe sporadic neurofibromatosis type 2 (NF2) is typically within childhood; however, there is poor awareness of presenting features in young children, potentially resulting in delayed diagnosis and poorer outcome. We have reviewed presentation of sporadic paediatric NF2 to raise awareness of early features, highlighting those requiring further investigation. DESIGN: Patients diagnosed with NF2 at age ≤16 and seen between 2012 and 2015 were notified via the British Paediatric Neurology Surveillance Unit or identified through the English NF2 service...
March 13, 2018: Archives of Disease in Childhood
https://www.readbyqxmd.com/read/29524657/novel-homozygous-gba2-mutation-in-a-patient-with-complicated-spastic-paraplegia
#17
Giulia Coarelli, Silvia Romano, Lorena Travaglini, Michela Ferraldeschi, Francesco Nicita, Maria Spadaro, Arianna Fornasiero, Marina Frontali, Marco Salvetti, Enrico Bertini, Giovanni Ristori
Hereditary spastic paraplegias (HSPs) are a heterogeneous group of neurological disorders characterized primarily by a pyramidal syndrome with lower limb spasticity, which can manifest as pure HSP or associated with a number of neurological or non-neurological signs (i.e., complicated HSPs). The clinical variability of HSPs is associated with a wide genetic heterogeneity, with more than eighty causative genes known. Recently, next generation sequencing (NGS) has allowed increasing genetic definition in such a heterogeneous group of disorders...
March 3, 2018: Clinical Neurology and Neurosurgery
https://www.readbyqxmd.com/read/29521748/delayed-diagnosis-of-gorlin-goltz-syndrome-the-importance-of-the-multidisciplinary-approach
#18
Jéssica Araújo Figueira, Fábio Roberto de Souza Batista, Karina Rosso, Vanessa Cristina Veltrini, Angelo José Pavan
Gorlin-Goltz syndrome (GGS), also known as nevoid basal cell carcinoma syndrome, is an autosomal dominant inherited disorder with high penetrance and variable expressivity. The classic triad originally described by Gorlin and Goltz in 1960 is composed of multiple nevoid basal cell carcinomas (NBCCs), odontogenic keratocysts (OKCs) in the jaws and bifid ribs. in 1977, this triad was modified by Rayner et al, and to GGS diagnosis, the OKCs had to appear in combination with calcification of the cerebellar falx or palmar and plantar pits...
March 8, 2018: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/29515422/convulsive-seizures-as-presenting-symptom-of-metronidazole-induced-encephalopathy-a-case-report
#19
Caspar Godthaab Sørensen, William Kristian Karlsson, Faisal Mohammad Amin, Mette Lindelof
Introduction: Encephalopathy and convulsive seizures are rare manifestations of metronidazole toxicity. The incidence is unknown, but the condition has most frequently been reported in patients in their fifth to sixth decades. Usually, this condition is regarded as reversible, but permanent deficits and even death have been reported. Case Report: A 66-year-old female patient undergoing metronidazole treatment for pleural empyema was admitted to our institution after her second episode of seizure...
January 2018: Case Reports in Neurology
https://www.readbyqxmd.com/read/29509064/a-chinese-patient-of-p102l-gerstmann-str%C3%A3-ussler-scheinker-disease-contains-three-other-disease-associated-mutations-in-syne1
#20
Jing Wang, Kang Xiao, Wei Zhou, Chen Gao, Cao Chen, Qi Shi, Xiao-Ping Dong
Gerstmann-Sträussler-Scheinker disease (GSS) with the P102L mutation in PRNP gene is characterized with progressive cerebellar dysfunction clinically and PrPSc plaques neurologically. Due to the cerebellar ataxia in the early stage, GSS P102L is often misdiagnosed as other neurodegenerative disorders. We presented here a 49-year-old female patient with proven P102L PRNP mutation, and three heterologous mutations in hereditary ataxias associated gene SYNE1, including p.V3643L, p.M3376V and p.T2860A. The patient appeared progressive unsteady gait in early stage and developed the Creutzfeldt-Jacob disease (CJD) - associated clinical manifestations, including progressive dementia, myoclonus, pyramidal and extrapyramidal signs...
March 6, 2018: Prion
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