Results 31 to 40 of about 77,401 (305)

Subacute Sclerosing Panencephalitis of the Brainstem as a Clinical Entity. [PDF]

, 2017
Subacute sclerosing panencephalitis (SSPE) is a rare progressive neurological disorder of early adolescence caused by persistent infection of the measles virus, which remains prevalent worldwide despite an effective vaccine. SSPE is a devastating disease
Ciacci, Joseph D, Upadhyayula, Pavan S, Yang, Jason, Yue, John K   +3 more
core   +3 more sources

Hypocupremia: A Possible Association with Late Cortical Cerebellar Atrophy

Tremor and Other Hyperkinetic Movements, 2014
Background: We report a patient, diagnosed with late cortical cerebellar atrophy, who had persistent low serum copper levels.Case report: A 48-year-old male developed progressive difficulty with balance, frequent falls, and dysarthric speech, which ...
Shivam O. Mittal, Duarte G. Machado
doaj   +1 more source

Autism and mild epilepsy associated with a de novo missense pathogenic variant in the GTPase effector domain of DNM1

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView., 2023
Abstract Dynamin 1 is a GTPase protein involved in synaptic vesicle fission, which facilitates the exocytosis of neurotransmitters necessary for normal signaling. Pathogenic variants in the DNM1 gene are associated with intractable epilepsy, often manifested as infantile spasms at onset, developmental delay, and a movement disorder, and are located in ...
Davide Mei, Elena Parrini, Claudia Bianchini, Maria Luisa Ricci, Renzo Guerrini   +4 more
wiley   +1 more source

Morphological changes in the cerebellum during aging: evidence from convolutional neural networks and shape analysis

Frontiers in Aging Neuroscience
The morphology and function of the cerebellum are associated with various developmental disorders and healthy aging. Changes in cerebellar morphology during the aging process have been extensively investigated, with most studies focusing on changes in ...
Yu Wang, Yu Wang, Ye Teng, Ye Teng, Tianci Liu, Tianci Liu, Yuchun Tang, Yuchun Tang, Wenjia Liang, Wenjia Liang, Wenjun Wang, Wenjun Wang, Zhuoran Li, Qing Xia, Qing Xia, Feifei Xu, Feifei Xu, Shuwei Liu, Shuwei Liu   +18 more
doaj   +1 more source

Clinical syndromes associated with Coenzyme Q10 deficiency. [PDF]

, 2018
Primary Coenzyme Q deficiencies represent a group of rare conditions caused by mutations in one of the genes required in its biosynthetic pathway at the enzymatic or regulatory level.
Alc\ue1zar-Fabra, Maria, Brea-Calvo, Gloria, Trevisson, Eva   +2 more
core   +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

A Clinical-Based Diagnostic Approach to Cerebellar Atrophy in Children

Applied Sciences, 2021
Background: Cerebellar atrophy is a neuroradiological definition that categorizes conditions heterogeneous for clinical findings, disease course, and genetic defect.
Claudia Ciaccio, Chiara Pantaleoni, Franco Taroni, Daniela Di Bella, Stefania Magri, Eleonora Lamantea, Daniele Ghezzi, Enza Maria Valente, Vincenzo Nigro, Stefano D’Arrigo   +9 more
doaj   +1 more source

Cerebellum: an explanation for dystonia? [PDF]

, 2017
Dystonia is a movement disorder that is characterized by involuntary muscle contractions, abnormal movements and postures, as well as by non-motor symptoms, and is due to abnormalities in different brain areas.
Berardelli, Alfredo, Bologna, Matteo
core   +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

Age‐Related Characteristics of SYT1‐Associated Neurodevelopmental Disorder

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives We describe the clinical manifestations and developmental abilities of individuals with SYT1‐associated neurodevelopmental disorder (Baker‐Gordon syndrome) from infancy to adulthood. We further describe the neuroradiological and electrophysiological characteristics of the condition at different ages, and explore the associations ...
Sam G. Norwitz, Josefine Eck, Joel S. Winston, Kate Baker   +3 more
wiley   +1 more source