Results 41 to 50 of about 600,045 (285)

Cerebellar integrity in the amyotrophic lateral sclerosis-frontotemporal dementia continuum. [PDF]

PLoS ONE, 2014
Amyotrophic lateral sclerosis (ALS) and behavioural variant frontotemporal dementia (bvFTD) are multisystem neurodegenerative disorders that manifest overlapping cognitive, neuropsychiatric and motor features.
Rachel H Tan, Emma Devenney, Carol Dobson-Stone, John B Kwok, John R Hodges, Matthew C Kiernan, Glenda M Halliday, Michael Hornberger   +7 more
doaj   +1 more source

Linking the cerebellum posterior lobules atrophy to multiple system atrophy cognitive impairment

Neurobiology of Disease
Background: Cognitive impairments in multiple system atrophy (MSA) are linked to cerebellar dysfunction, but the role of specific posterior cerebellar lobules in domain-specific deficits remains unclear.
Huaguang Yang, Yunfei Zha, Weiyin Vivian Liu, Zhi Wen, Gonghao Ling, Di Zhang, Wenbing Yang   +6 more
doaj   +1 more source

Motor Deficits and Cerebellar Atrophy in Elovl5 Knock Out Mice

Frontiers in Cellular Neuroscience, 2017
Spino-Cerebellar-Ataxia type 38 (SCA38) is caused by missense mutations in the very long chain fatty acid elongase 5 gene, ELOVL5. The main clinical findings in this disease are ataxia, hyposmia and cerebellar atrophy.
Eriola Hoxha, Rebecca M. C. Gabriele, I. Balbo, Francesco Ravera, Linda Masante, V. Zambelli, Cristian Albergo, N. Mitro, D. Caruso, E. di Gregorio, A. Brusco, B. Borroni, F. Tempia   +12 more
semanticscholar   +1 more source

Deletion of the SELENOP gene leads to CNS atrophy with cerebellar ataxia in dogs. [PDF]

, 2021
We investigated a hereditary cerebellar ataxia in Belgian Shepherd dogs. Affected dogs developed uncoordinated movements and intention tremor at two weeks of age. The severity of clinical signs was highly variable.
Jagannathan, Vidya, Weber, Corinna, Kleiter, Miriam, Christen, Matthias, Leeb, Tosso, Leschnik, Michael, Thaller, Denise, Högler, Sandra   +7 more
core   +2 more sources

Epileptic Encephalopathy and Cerebellar Atrophy Resulting from Compound Heterozygous CACNA2D2 Variants

Case Reports in Genetics, 2018
CACNA2D2 encodes an auxiliary subunit of the voltage-dependent calcium channel. To date, there have only been two reports of individuals with early-infantile epileptic encephalopathy due to CACNA2D2 mutations.
Kameryn M. Butler, Philip J. Holt, S. Milla, Cristina da Silva, J. Alexander, A. Escayg   +5 more
semanticscholar   +1 more source

Post-Heat Stroke Cerebellar Atrophy

, 2009
There are a few cases reported of cerebellar involvement following heat stroke worldwide. We present a rare case of cerebellar atrophy following heat stroke in India. A 25-year-old male soldier in the Indian army presented with giddiness followed by loss
Punith, K; id_orcid, Kumar, T Anil, Srinivasan, Gita, Sudhir, U   +3 more
core   +4 more sources

Identification and characterisation of calcitonin receptor isoforms expressed in glioblastoma derived glioma stem and U‐87 MG cells

FEBS Open Bio, EarlyView.
Glioblastoma cells express calcitonin receptor variants (CT receptor isoforms) that may help them survive stress. Using qPCR, transcript‐specific long‐read nanopore sequencing, immunofluorescence co‐localisation and comparative sequence analysis, this study identifies a novel alternatively spliced CALCR transcript that encodes the CTb receptor isoform ...
Pragya Gupta, Sebastian GB Furness, Tahereh Gharbi, Ric De Paoli‐Iseppi, Shweta S. Joshi, Michael Clark, David L. Hare, Peter Wookey   +7 more
wiley   +1 more source

Hipoplasias cerebelosas.

Acta Médica Portuguesa, 2010
Cerebellar hypoplasias are cerebellar malformations with small but completely formed cerebellum. They can be divided in focal and in diffuse or generalized.
Marta Maia Safronova, Clara Barbot, Jorge Resende Pereira   +2 more
doaj   +1 more source

Cerebellar atrophy and its contribution to cognition in frontotemporal dementias

Annals of Neurology, 2018
Increasing evidence suggests that cerebellar damage impacts on cognitive functions. Frontotemporal dementias (FTDs) are neurodegenerative brain conditions, primarily affecting the frontal and/or temporal lobe.
Yu Chen, F. Kumfor, R. Landin-Romero, M. Irish, J. Hodges, O. Piguet   +5 more
semanticscholar   +1 more source

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chaolong Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, Tongyue Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, Mingxi Sun, Danmin Shen, Ruoyu Duan, Huafang Jiang, Manting Xu, Holger Prokisch, Fang Fang   +21 more
wiley   +1 more source