Results 31 to 40 of about 600,045 (285)

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

Loss of Oxidation Resistance 1, OXR1, Is Associated with an Autosomal-Recessive Neurological Disease with Cerebellar Atrophy and Lysosomal Dysfunction.

American Journal of Human Genetics, 2019
We report an early-onset autosomal-recessive neurological disease with cerebellar atrophy and lysosomal dysfunction. We identified bi-allelic loss-of-function (LoF) variants in Oxidative Resistance 1 (OXR1) in five individuals from three families; these ...
Julia Wang, J. Rousseau, Emily Kim, Sophie Ehresmann, Yi-Ting Cheng, Lita R. Duraine, Zhong-Yuan Zuo, Ye-Jin Park, David Li-Kroeger, W. Bi, L. Wong, J. Rosenfeld, J. Gleeson, E. Faqeih, F. Alkuraya, K. Wierenga, Jiani Chen, A. Afenjar, C. Nava, D. Doummar, B. Keren, J. Juusola, M. Grompe, Hugo J. Bellen, Philippe M. Campeau   +24 more
semanticscholar   +1 more source

Late-onset autosomal recessive cerebellar ataxia and neuropathy with a novel splicing mutation in the ATM gene [PDF]

Journal of Integrative Neuroscience, 2020
Autosomal recessive cerebellar ataxias comprise many types of diseases. The most frequent autosomal recessive cerebellar ataxias are Friedreich ataxia, but other types are relatively rare.
Haruo Shimazaki, Junya Kobayashi, Ryo Sugaya, Imaharu Nakano, Shigeru Fujimoto
doaj   +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

Variants in EXOSC9 Disrupt the RNA Exosome and Result in Cerebellar Atrophy with Spinal Motor Neuronopathy

American Journal of Human Genetics, 2018
The exosome is a conserved multi-protein complex that is essential for correct RNA processing. Recessive variants in exosome components EXOSC3, EXOSC8, and RBM7 cause various constellations of pontocerebellar hypoplasia (PCH), spinal muscular atrophy ...
D. Burns, S. Donkervoort, J. Müller, Ellen Knierim, D. Bharucha-Goebel, E. Faqeih, Stephanie K. Bell, Abdullah Alfaifi, D. Monies, F. Millan, K. Retterer, S. Dyack, S. Mackay, S. Morales-Gonzalez, M. Giunta, B. Munro, G. Hudson, M. Scavina, L. Baker, Tara C Massini, Monkol Lek, Ying Hu, D. Ezzo, F. Alkuraya, P. Kang, H. Griffin, A. Foley, M. Schuelke, R. Horvath, C. Bonnemann   +29 more
semanticscholar   +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

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

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