Results 11 to 20 of about 77,401 (305)

A Comprehensive Approach to Disentangle the Effect of Cerebellar Damage on Physical Disability in Multiple Sclerosis

Frontiers in Neurology, 2020
Cerebellar damage occurs frequently in multiple sclerosis (MS) patients, with a wide exhibition of symptoms particularly as impairments of balance and gait. Recent studies implementing new postprocessing magnetic resonance imaging (MRI) techniques showed
Serena Ruggieri, Serena Ruggieri, Komal Bharti, Luca Prosperini, Costanza Giannì, Nikolaos Petsas, Silvia Tommasin, Laura De Giglio, Carlo Pozzilli, Patrizia Pantano, Patrizia Pantano   +10 more
doaj   +1 more source

Novel homozygous GBA2 mutation in a patient with complicated spastic paraplegia [PDF]

, 2018
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 ...
Bertini, Enrico, Coarelli, Giulia, Ferraldeschi, Michela, Fornasiero, Arianna, Frontali, Marina, Nicita, Francesco, Ristori, Giovanni, Romano, Silvia, Salvetti, Marco, Spadaro, Maria, Travaglini, Lorena   +10 more
core   +1 more source

Cerebellar atrophy with long-term phenytoin (PHT) use: Case report [PDF]

Romanian Journal of Neurology, 2017
Cerebellar atrophy can be found with long-term phenytoin (PHT) use or acute phenytoin intoxication. PHT may cause cerebellar symptoms, such as nystagmus, diplopia, dysarthria and ataxia. Clinical manifestations may be persistent. We report a case of a 41-
Jamir P. Rissardo, Ana L.F. Caprara, Juliana O.F. Silveira   +2 more
doaj   +1 more source

Multiplex ligation-dependent probe amplification (MLPA) analysis is an effective tool for the detection of novel intragenic PLA2G6 mutations: Implications for molecular diagnosis [PDF]

, 2010
Phospholipase associated neurodegeneration (PLAN) comprises a heterogeneous group of autosomal recessive neurological disorders caused by mutations in the PLA2G6 gene. Direct gene sequencing detects 85% mutations in infantile neuroaxonal dystrophy.
Brady, Angela F, Crompton, Danielle, De Gressi, Susanna, Foster, Kathleen, Hardy, Carol, Hughes, Imelda, Kurian, Manju A, Lunt, Peter, MacPherson, Lesley, Maher, Eamonn R, McDonald, Fiona, Morgan, Neil V, Pike, Michael G, Rehal, Pauline K, Smith, Matthew   +14 more
core   +1 more source

Isolated Subtle Neurological Abnormalities in Mild Cognitive Impairment Types [PDF]

, 2020
Background: Isolated, subtle neurological abnormalities (ISNA) are commonly seen in aging and have been related to cerebral small vessel disease (SVD) and subcortical atrophy in neurologically and cognitively healthy aging subjects.
Azzarello, Delia, Camarda, Cecilia, Camarda, Rosolino, Cilluffo, Giovanna, Grassedonio, Emanuele, Pipia, Carmela, Sottile, Gianluca, Torelli, Paola   +7 more
core   +1 more source

Neuroradiological Findings in the Spinocerebellar Ataxias

Tremor and Other Hyperkinetic Movements, 2019
Background: The spinocerebellar ataxias (SCAs) are a group of autosomal dominant degenerative diseases characterized by cerebellar ataxia.
Alex Tiburtino Meira, Walter Oleschko Arruda, Sergio Eiji Ono, Arnolfo de Carvalho Neto, Salmo Raskin, Carlos Henrique F. Camargo, Hélio Afonso G. Teive   +6 more
doaj   +1 more source

Spinocerebellar Ataxia Type 2 [PDF]

, 2012
1. Introduction: The autosomal dominant cerebellar ataxias (ADCA) are a clinically, pathologically and genetically heterogeneous group of neurodegenerative disorders caused by degeneration of cerebellum and its afferent and efferent connections.
Auburger, Georg, Freund, Hans-Joachim, Rodríguez-Labrada, Roberto, Velázquez-Pérez, Luis   +3 more
core   +1 more source

Terra incognita—cerebellar contributions to neuropsychiatric and cognitive dysfunction in behavioral variant frontotemporal dementia [PDF]

, 2015
Although converging evidence has positioned the human cerebellum as an important relay for intact cognitive and neuropsychiatric processing, changes in this large structure remain mostly overlooked in behavioral variant frontotemporal dementia (bvFTD), a
Emma eDevenney, Emma eDevenney, Glenda M Halliday, Glenda M Halliday, John R Hodges, John R Hodges, John R Hodges, Matthew C Kiernan, Matthew C Kiernan, Michael eHornberger, Michael eHornberger, Michael eHornberger, Rachel H Tan, Rachel H Tan   +13 more
core   +2 more sources

Relação dose-dependente do uso crônico de fenitoína e atrofia cerebelar em pacientes com epilepsia Dose-related cerebellar atrophy in patients with epilepsy using phenytoin

Arquivos de Neuro-Psiquiatria, 2000
O uso crônico da fenitoína ou intoxicação aguda por essa droga produzem lesão cerebelar permanente com atrofia do vermis e hemisférios cerebelares, que pode ser evidenciada através de exames de neuroimagem.
ANDRÉ DEL NEGRO, CLARISSA DE ROSALMEIDA DANTAS, VERÔNICA ZANARDI, MARIA AUGUSTA MONTENEGRO, FERNANDO CENDES   +4 more
doaj   +1 more source

Downbeat nystagmus: aetiology and comorbidity in 117 patients [PDF]

, 2008
Objectives: Downbeat nystagmus (DBN) is the most common form of acquired involuntary ocular oscillation overriding fixation. According to previous studies, the cause of DBN is unsolved in up to 44% of cases.
Brandt, Thomas, Glaser, Mirjam, Strupp, Michael, Wagner, Judith N.   +3 more
core   +1 more source