Results 11 to 20 of about 47,175 (263)

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

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

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

Genetic Screening for Spinocerebellar Ataxia Genes in a Japanese Single-Hospital Cohort [PDF]

Journal of Movement Disorders, 2017
Objective Diagnosis of sporadic cerebellar ataxia is a challenge for neurologists. A wide range of potential causes exist, including chronic alcohol use, multiple system atrophy of cerebellar type (MSA-C), and sporadic late cortical cerebellar atrophy ...
Ryuji Sakakibara, Fuyuki Tateno, Masahiko Kishi, Yohei Tsuyusaki, Yosuke Aiba, Hitoshi Terada, Tsutomu Inaoka, Setsu Sawai, Satoshi Kuwabara, Fumio Nomura   +9 more
doaj   +1 more source

A Madras Motor Neuron Disease Patient With Cerebellar Atrophy: A New Clinical Feature

Frontiers in Neuroscience, 2018
A 34-year-old Chinese Han female complaining of general muscle weakness and wasting for 9 years. She was admitted for aggravation of her symptoms caused by respiratory distress. She also suffered from bulbar palsy.
Ling Long, Xiaodong Cai, Jia Liu, Zhuang Kang, Jing Li, Zizhen Huang, Ruomi Guo, Yan Zou, Zhengqi Lu   +8 more
doaj   +1 more source

Multiple system atrophy-cerebellar: A case report and literature review

Radiology Case Reports, 2023
We reported a case of a 48-year-old female patient admitted to the hospital due to balance disorder which progressed rapidly within 1 week. Cerebral magnetic resonance imaging showed significant atrophy and hyperintensities at the middle cerebellar ...
Thi Thuong Doan, MD, Thuy Dung Pham, MD, Duy Duan Nguyen, MD, Dac Hong An Ngo, MD, Trong Binh Le, MD, PhD, Thanh Thao Nguyen, MD, PhD   +5 more
doaj   +1 more source

The ‘Hot Cross Bun’ Sign Is Not Always Multiple System Atrophy: Etiologies of 11 Cases [PDF]

Journal of Movement Disorders, 2019
Objective To clarify the specificity of the ‘hot cross bun’ sign (HCBS) for multiple system atrophy (MSA) in adult cerebellar ataxia or parkinsonism. Methods The radiologic information systems at an academic center and affiliated veterans’ hospital were ...
Christopher Way, David Pettersson, Amie Hiller   +2 more
doaj   +1 more source