All Relations between spinal cord ventral horn motor neuron alpha and cerebellum

Reference Sentence Publish Date Extraction Date Species
Rangariroyashe H Chipika, Grainne Mulkerrin, Pierre-Fran\\xc3\\xa7ois Pradat, Aizuri Murad, Fabrice Ango, C\\xc3\\xa9dric Raoul, Peter Bed. Cerebellar pathology in motor neuron disease: neuroplasticity and neurodegeneration. Neural regeneration research vol 17 issue 11 2022 35535867 the clinical picture is dominated by upper and lower motor neuron degeneration, but extra-motor pathology is increasingly recognized, including cerebellar pathology. 2022-05-10 2022-05-12 Not clear
Stacey Li Hi Shing, Aizuri Murad, Jasmin Lope, Orla Hardiman, Peter Bed. Cerebellar remodelling decades after spinal cord insult: neuroplasticity in poliomyelitis survivors. Journal of integrative neuroscience vol 21 issue 2 2022 35364653 the objective of this study is the systematic characterisation of cerebellar integrity metrics in a cohort of adult poliomyelitis survivors as a template condition for longstanding lower motor neuron injury. 2022-04-01 2022-04-14 Not clear
Sevim T\\xc3\\xbcray, Recep Er\\xc3\\xb6z, A Nazl\\xc4\\xb1 Ba\\xc5\\x9fa. A novel pathogenic variant in the 3' end of the AGTPBP1 gene gives rise to neurodegeneration without cerebellar atrophy: an expansion of the disease phenotype? Neurogenetics vol 22 issue 2 2021 33909173 childhood-onset neurodegeneration with cerebellar atrophy (condca) is a recently described form of the large group of infantile hereditary lower motor neuron diseases (teoh et al. 2021-12-03 2022-01-13 Not clear
Sevim T\\xc3\\xbcray, Recep Er\\xc3\\xb6z, A Nazl\\xc4\\xb1 Ba\\xc5\\x9fa. A novel pathogenic variant in the 3' end of the AGTPBP1 gene gives rise to neurodegeneration without cerebellar atrophy: an expansion of the disease phenotype? Neurogenetics vol 22 issue 2 2021 33909173 however, in our patients, no signs of cerebellar atrophy in cranial mri were present, so the acronym condca is not applicable; lower motor neuron findings were also absent. 2021-12-03 2022-01-13 Not clear
Jitka M\\xc3\\xa1jovsk\\xc3\\xa1, Anita Hennig, Igor Nestrasil, Susanne A Schneider, Helena Jahnov\\xc3\\xa1, Manuela Van\\xc4\\x9b\\xc4\\x8dkov\\xc3\\xa1, Martin Magner, Petr Du\\xc5\\xa1e. Pontocerebellar atrophy is the hallmark neuroradiological finding in late-onset Tay-Sachs disease. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology vol issue 2021 34800199 late-onset tay-sachs disease (lots) is a form of gm2 gangliosidosis, an autosomal recessive neurodegenerative disorder characterized by slowly progressive cerebellar ataxia, lower motor neuron disease, and psychiatric impairment due to mutations in the hexa gene. 2021-11-20 2022-01-13 Not clear
William Kristian Karlsson, Joan Lilja Sunnleyg H\\xc3\\xb8jgaard, Anna Vilhelmsen, Clarissa Crone, Birgit Andersen, Ian Law, Lisbeth Birk M\\xc3\\xb8ller, Troels Tolstrup Nielsen, Emilie Neerup Nielsen, Thomas Krag, Kirsten Svenstrup, J\\xc3\\xb8rgen Erik Nielse. Novel Homozygous Truncating Variant Widens the Spectrum of Early-Onset Multisystemic SYNE1 Ataxia. Cerebellum (London, England) vol issue 2021 34318393 we expand the list of likely pathogenic variants in syne1 ataxia with a novel homozygous truncating variant with proximity to the c-terminus and relate it to a phenotype comprising early-onset cerebellar deficits, upper and lower motor neuron involvement and cognitive deficits. 2021-07-28 2022-01-13 Not clear
Mert Karakaya, Cem Paketci, Janine Altmueller, Holger Thiele, Irmgard Hoelker, Uluc Yis, Brunhilde Wirt. Biallelic variant in AGTPBP1 causes infantile lower motor neuron degeneration and cerebellar atrophy. American journal of medical genetics. Part A vol 179 issue 8 2020 31102495 biallelic variant in agtpbp1 causes infantile lower motor neuron degeneration and cerebellar atrophy. 2020-07-28 2022-01-13 Not clear
Mert Karakaya, Cem Paketci, Janine Altmueller, Holger Thiele, Irmgard Hoelker, Uluc Yis, Brunhilde Wirt. Biallelic variant in AGTPBP1 causes infantile lower motor neuron degeneration and cerebellar atrophy. American journal of medical genetics. Part A vol 179 issue 8 2020 31102495 likewise, a novel phenotype, childhood-onset neurodegeneration with cerebellar atrophy (condca) has been described recently in individuals with lower motor neuron disorder and cerebellar atrophy due to biallelic loss-of-function variants in agtpbp1 that encodes cytosolic carboxypeptidase 1 (ccp1). 2020-07-28 2022-01-13 Not clear
Marc Corral-Juan, Carmen Serrano-Munuera, Alberto R\\xc3\\xa1bano, Daniel Cota-Gonz\\xc3\\xa1lez, Anna Segarra-Roca, Lourdes Ispierto, Antonio Tom\\xc3\\xa1s Cano-Orgaz, Astrid D Adarmes, Carlota M\\xc3\\xa9ndez-Del-Barrio, Silvia Jes\\xc3\\xbas, Pablo Mir, Victor Volpini, Ramiro Alvarez-Ramo, Ivelisse S\\xc3\\xa1nchez, Antoni Matilla-Due\\xc3\\xb1a. Clinical, genetic and neuropathological characterization of spinocerebellar ataxia type 37. Brain : a journal of neurology vol 141 issue 7 2019 29939198 the autosomal dominant spinocerebellar ataxias (scas) consist of a highly heterogeneous group of rare movement disorders characterized by progressive cerebellar ataxia variably associated with ophthalmoplegia, pyramidal and extrapyramidal signs, dementia, pigmentary retinopathy, seizures, lower motor neuron signs, or peripheral neuropathy. 2019-07-17 2022-01-13 Not clear
Yu-sheng Li, Cheng-yuan Mao, Chang-he Shi, Bo Song, Jun Wu, Jie Qin, Yan Ji, Hui-xia Niu, Hai-yang Luo, Dan-dan Shang, Shi-lei Sun, Yu-ming X. Exome sequencing reveals novel SPG11 mutation in hereditary spastic paraplegia with complicated phenotypes. Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia vol 22 issue 7 2016 26003865 our finding suggests that these novel compound heterozygous mutations in spg11 are associated with hsp and lower motor neuron involvement, mild cerebellar signs and dysgenesis of the corpus callosum. 2016-04-20 2022-01-12 Not clear
Yu-sheng Li, Cheng-yuan Mao, Chang-he Shi, Bo Song, Jun Wu, Jie Qin, Yan Ji, Hui-xia Niu, Hai-yang Luo, Dan-dan Shang, Shi-lei Sun, Yu-ming X. Exome sequencing reveals novel SPG11 mutation in hereditary spastic paraplegia with complicated phenotypes. Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia vol 22 issue 7 2016 26003865 we used a combined approach of whole-exome sequencing and candidate mutation validation to identify the disease-causing gene in a hereditary spastic paraplegia (hsp) patient with lower motor neuron involvement, mild cerebellar signs and dysgenesis of the corpus callosum. 2016-04-20 2022-01-12 Not clear
S Sveinbjornsdottir, G Einarsso. [Disorders of stance and gait: a review.]. Laeknabladid vol 83 issue 9 2015 19679901 the clinical symptoms of gait disturbances associated with upper and lower motor neuron dysfunction, extrapyramidal disorders, sensory, cerebellar and other neurological conditions as well as diseases of the skeleton are described. 2015-10-26 2022-01-12 Not clear
C Bettencourt, J L L\\xc3\\xb3pez-Send\\xc3\\xb3n, J Garc\\xc3\\xada-Caldentey, P Rizzu, I M C Bakker, O Shomroni, B Quint\\xc3\\xa1ns, J R D\\xc3\\xa1vila, M R Bevova, M-J Sobrido, P Heutink, J G de Y\\xc3\\xa9bene. Exome sequencing is a useful diagnostic tool for complicated forms of hereditary spastic paraplegia. Clinical genetics vol 85 issue 2 2015 23438842 whole-exome sequencing was performed in two spanish siblings with a neurodegenerative syndrome including upper and lower motor neuron, ocular and cerebellar signs. 2015-03-30 2022-01-12 Not clear
Diogo Fernandes dos Santos, Jos\\xc3\\xa9 Luiz Pedroso, Pedro Braga-Neto, Giselle Melo Fontes Silva, Luciane Bizari Coin de Carvalho, Lucila B F Prado, Orlando Graziani P Barsottini, Gilmar Fernandes do Prad. Excessive fragmentary myoclonus in Machado-Joseph disease. Sleep medicine vol 15 issue 3 2014 24518960 machado-joseph disease (mjd) is a neurodegenerative disease which usually presents several clinical findings including cerebellar ataxia and other extracerebellar features, such as parkinsonism, dystonia, peripheral neuropathy, and lower motor neuron disease. 2014-11-24 2022-01-12 Not clear
Pam Enderb. Disorders of communication: dysarthria. Handbook of clinical neurology vol 110 issue 2013 23312647 there are six major types of dysarthria: flaccid dysarthria associated with lower motor neuron impairment, spastic dysarthria associated with damaged upper motor neurons linked to the motor areas of the cerebral cortex, ataxic dysarthria primarily caused by cerebellar dysfunction, and hyperkinetic dysarthria and hypokinetic dysarthria, which are related to a disorder of the extrapyramidal system. 2013-08-06 2022-01-12 Not clear
Takahisa Tateishi, Toshihiro Hokonohara, Ryo Yamasaki, Shiro Miura, Hitoshi Kikuchi, Akiko Iwaki, Hiroshi Tashiro, Hirokazu Furuya, Yuko Nagara, Yasumasa Ohyagi, Nobuyuki Nukina, Toru Iwaki, Yasuyuki Fukumaki, Jun-ichi Kir. Multiple system degeneration with basophilic inclusions in Japanese ALS patients with FUS mutation. Acta neuropathologica vol 119 issue 3 2012 19967541 neuropathological study of one autopsied case with the fus mutation revealed multiple system degeneration in addition to upper and lower motor neuron involvement: the globus pallidus, thalamus, substantia nigra, cerebellum, inferior olivary nucleus, solitary nucleus, intermediolateral horn, clarke's column, onuf's nucleus, central tegmental tract, medial lemniscus, medial longitudinal fasciculus, superior cerebellar peduncle, posterior column, and spinocerebellar tract were all degenerated. 2012-01-11 2022-01-12 Not clear
C C S Delnooz, D J Lefeber, S M C Langemeijer, S Hoffjan, G Dekomien, M J Zwarts, B G M Van Engelen, R A Wevers, H J Schelhaas, B P C van de Warrenbur. New cases of adult-onset Sandhoff disease with a cerebellar or lower motor neuron phenotype. Journal of neurology, neurosurgery, and psychiatry vol 81 issue 9 2010 20798201 new cases of adult-onset sandhoff disease with a cerebellar or lower motor neuron phenotype. 2010-09-16 2022-01-12 Not clear
C C S Delnooz, D J Lefeber, S M C Langemeijer, S Hoffjan, G Dekomien, M J Zwarts, B G M Van Engelen, R A Wevers, H J Schelhaas, B P C van de Warrenbur. New cases of adult-onset Sandhoff disease with a cerebellar or lower motor neuron phenotype. Journal of neurology, neurosurgery, and psychiatry vol 81 issue 9 2010 20798201 the authors describe six new late-onset sandhoff cases demonstrating cerebellar ataxia or lower motor neuron (lmn) involvement combined with, mostly subclinical, neuropathy. 2010-09-16 2022-01-12 Not clear
N Chakraborty, T Roy, A Hazra, A Biswas, K Bhattachary. Dysarthric Bengali speech: a neurolinguistic study. Journal of postgraduate medicine vol 54 issue 4 2009 18953144 dysarthria affects linguistic domains such as respiration, phonation, articulation, resonance and prosody due to upper motor neuron, lower motor neuron, cerebellar or extrapyramidal tract lesions. 2009-05-07 2022-01-12 Not clear
G Gatti, S Simsek, A Kurne, S Zurrida, P Naninato, P Veronesi, A Frasson, E Millen, J Rososchansky, A Luin. Paraneoplastic neurological disorders in breast cancer. Breast (Edinburgh, Scotland) vol 12 issue 3 2004 14659327 the neurological paraneoplastic syndromes that are mainly associated with breast cancer are subacute cerebellar degeneration, paraneoplastic retinopathy, opsoclonus-myoclonus syndrome, lower motor neuron diseases and stiff-man syndrome. 2004-02-04 2022-01-13 Not clear
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