Results 1 to 10 of about 600,045 (285)

Pathology-specific patterns of cerebellar atrophy in neurodegenerative disorders. [PDF]

Alzheimers Dement, 2023
Associations of cerebellar atrophy with specific neuropathologies in Alzheimer's disease and related dementias (ADRD) have not been systematically analyzed. This study examined cerebellar gray matter volume across major pathological subtypes of ADRD.
Chen Y, Spina S, Callahan P, Grinberg LT, Seeley WW, Rosen HJ, Kramer JH, Miller BL, Rankin KP.   +8 more
europepmc   +3 more sources

Superior Cerebellar Atrophy: An Imaging Clue to Diagnose ITPR1-Related Disorders. [PDF]

Int J Mol Sci, 2022
The inositol 1,4,5-triphosphate receptor type 1 (ITPR1) gene encodes an InsP3-gated calcium channel that modulates intracellular Ca2+ release and is particularly expressed in cerebellar Purkinje cells. Pathogenic variants in the ITPR1 gene are associated
Romaniello R, Pasca L, Panzeri E, D'Abrusco F, Travaglini L, Serpieri V, Signorini S, Aiello C, Bertini E, Bassi MT, Valente EM, Zanni G, Borgatti R, Arrigoni F.   +13 more
europepmc   +2 more sources

Channelopathies Are a Frequent Cause of Genetic Ataxias Associated with Cerebellar Atrophy

Movement Disorders Clinical Practice, 2020
Cerebellar atrophy is a nonspecific imaging finding observed in a number of neurological disorders. Genetic ataxias associated with cerebellar atrophy are a heterogeneous group of conditions, rendering the approach to diagnosis challenging.
Karine Choquet, François P. Bernier, David A Dyment   +2 more
exaly   +2 more sources

Regional cerebellar atrophy related to disability and cognitive progression in multiple sclerosis [PDF]

NeuroImage: Clinical
Objective: The implications of cerebellar pathology on clinical disease progression in multiple sclerosis (MS) remain unclear. This study investigated regional cerebellar atrophy related to physical disability and cognitive impairment progression ...
Myrte Strik, Iris Dekker, Aurélie Ruet, Hanneke E. Hulst, Mike P. Wattjes, Frederik Barkhof, Bernard M.J. Uitdehaag, Joep Killestein, Menno M. Schoonheim   +8 more
doaj   +2 more sources

Mapping the path to degeneration: How lesion location predicts post-stroke cerebellar atrophy [PDF]

NeuroImage: Clinical
Introduction: Stroke can lead to neurological changes beyond the initial lesion site, including post-stroke crossed-cerebellar degeneration. While traditional methods typically rely on total lesion volume to assess remote effects, the spatial ...
Makayla Gibson, Roger Newman-Norlund, Janina Wilmskoetter, Sigfus Kristinsson, Leonardo Bonilha, Julius Fridriksson, Chris Rorden   +6 more
doaj   +2 more sources

Incidence and Characteristics of Cerebellar Atrophy/Volume Loss in Children with Confirmed Diagnosis of Tuberous Sclerosis Complex [PDF]

Children
Objectives: The goal of our study was to determine the incidence of cerebellar atrophy, assess the imaging findings in the posterior fossa and determine the incidence of hippocampal sclerosis in a cohort of pediatric patients with confirmed tuberous ...
Livja Mertiri, Eugen Boltshauser, Stephen F. Kralik, Nilesh K. Desai, Maarten H. Lequin, Thierry A. G. M. Huisman   +5 more
doaj   +2 more sources

Cerebellar atrophy and its contribution to motor and cognitive performance in multiple system atrophy

NeuroImage: Clinical, 2019
Objective: Neuroanatomical differences in the cerebellum are among the most consistent findings in multiple system atrophy (MSA) patients. This study performed a detailed cerebellar morphology in MSA patients and its two subtypes: MSA-P (parkinson's ...
HuaGuang Yang, Na Wang, XiaoGuang Luo, Hong Lv, Hu Liu, YingMei Li, GuoGuang Fan   +6 more
doaj   +2 more sources

De novo mutation screening in childhood-onset cerebellar atrophy identifies gain-of-function mutations in the CACNA1G calcium channel gene

Brain, 2018
Cerebellar atrophy is a key neuroradiological finding usually associated with cerebellar ataxia and cognitive development defect in children. Unlike the adult forms, early onset cerebellar atrophies are classically described as mostly autosomal recessive
Stanislas Lyonnet, Sylvain Hanein, Giulia Barcia   +2 more
exaly   +2 more sources

Expanding the clinical phenotype of HIST1H1E syndrome: cerebellar atrophy and bilateral optic neuropathy, a case report [PDF]

Frontiers in Neurology
BackgroundHIST1H1E syndrome is caused by frameshift variants in the HIST1H1E gene; while strabismus and refractive errors have been previously reported, this is the first case describing optic and cerebellar atrophy in an affected individual to our ...
Zinnia Sen Yen Lai, Zinnia Sen Yen Lai, Nicola O'Neil, Ezann Siebert, Stephen Colley, Peter K. Panegyres, Peter K. Panegyres   +6 more
doaj   +2 more sources

Cortical, subcortical, and cerebellar atrophy and cognition deficits in Metropolitan Mexico City teens and young adults exposed to fine particulate matter (PM2.5) - neurodegeneration is in progress [PDF]

Frontiers in Neurology
Exposure to environmental fine particulate matter (PM2.5), ultrafine PM (UFPM) and nanoparticles (NPs) are associated with accumulation of amyloid-β1–42 peptides, phosphorylated-Tau, alpha-synuclein and transactive response DNA binding-protein-43 ...
Lilian Calderón-Garcidueñas, Jacqueline Hernández-Luna, Carolina I. Galaz-Montoya, Carolina I. Galaz-Montoya, Carolina I. Galaz-Montoya, Sean A. P. Clouston, Mario Vincenzo Aiello-Mora, Julio Amaro de Gante, Elijah W. Stommel, Ricardo Torres-Jardón, Ozkan Ufuk Nalbantoglu   +10 more
doaj   +2 more sources