Results 41 to 50 of about 982,648 (300)

SPG4 and Dementia: Expanding the Clinical Spectrum

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Hereditary spastic paraplegia (HSP) is a group of disorders characterized by progressive spasticity and lower limb weakness, with mutations in SPG4/SPAST being the most common cause. Detailed studies and clinical and molecular comparisons across different populations are missing.
Emanuele Panza, Arun Meyyazhagan, Eliseo Picchi, Gustavo Ribas, Ingrid Faber, Ryosuke Miyamoto, Preethi Basavaraju, Paolo Eusebi, Haripriya Kuchi Bhotla, Mario Stasi, Fabrizio Gaudiello, Francesco Patti, Filippo Maria Santorelli, Marcondes Cavalcante França Jr, José Luiz Pedroso, Orlando Graziani Povoas Barsottini, Hélio Afonso Ghizoni Teive, Peter Henry St George‐Hyslop, Toshitaka Kawarai, Antonio Orlacchio   +19 more
wiley   +1 more source

Investigating the DTI-ALPS index and its association with cognitive impairment in Alzheimer’s disease: a diffusion tensor imaging study

Frontiers in Neuroscience
ObjectivesWith the global aging population, Alzheimer’s disease (AD) poses a major health challenge. The diffusion tensor image (DTI) analysis along the perivascular space (DTI-ALPS) index has emerged as a noninvasive imaging marker that indirectly ...
Zixuan Zhai, Zixuan Zhai, Yingte Wang, Yingte Wang, Hong Li, Yimin Wang, Jing Zhou, Yi Liang, Airong Yang, Zhiming Li, Zhiming Li   +10 more
doaj   +1 more source

The Role of Calcitonin Gene‐Related Peptide in High‐Altitude Headache: A Prospective Field Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective High‐altitude headache (HAH) is a common neurological condition associated with rapid ascent to high altitude. The pathophysiological mechanisms underlying HAH remain incompletely understood. Calcitonin gene‐related peptide (CGRP), a neuropeptide implicated in migraine pathophysiology, may play a key role in the pathophysiology of ...
Roman Schniepp, Ludwig Karrasch, Helena Breitenstein, Andreas Straube, Katharina Kamm   +4 more
wiley   +1 more source

Verbal paired associates learning lateralizes left hippocampal sclerosis in temporal lobe epilepsy

Epilepsia Open
Objective Left hippocampal sclerosis (HS) is associated with verbal‐specific memory impairment. This association is well established for word list learning tasks, and there is some evidence that this may also be relevant to verbal paired associates ...
Andy Sitoh, David Weintrob, Jacqueline F. I. Anderson, Angela R. Jackman, Marie F. O'Shea, Graeme D. Jackson, Piero Perucca, Chris Tailby   +7 more
doaj   +1 more source

Effect of extrapleural silicone filling on lung function in patients with bilateral destructive tuberculosis

Digital Diagnostics, 2023
BACKGROUND: Despite the success of the fight against tuberculosis, the proportion of patients with multidrug- and extensively drug-resistant pathogens continues to grow.
Daria V. Donchenko, Mikhail I. Chushkin, Elena V. Krasnikova, Mammad A. Bagirov   +3 more
doaj   +1 more source

Bilateral polymicrogyria as the indicative feature in a child with a 22q11.2 deletion

European Journal of Medical Genetics, 2010
Polymicrogyria (PMG) is a brain malformation due to abnormal cortical organisation. It is a heterogeneous disorder associated with 22q11.2 deletion syndrome (also known as velocardiofacial (VCF) syndrome) amongst others. Since this association was first recognised in 1996, over 30 patients with PMG and 22q11.2 deletion have been described.
Gerkes, Erica H, Hordijk, Roel, Dijkhuizen, Trijntje, Sival, Deborah A, Meiners, Linda C, Sikkema-Raddatz, Birgit, van Ravenswaaij-Arts, Conny M A   +6 more
openaire   +3 more sources

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chaolong Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, Tongyue Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, Mingxi Sun, Danmin Shen, Ruoyu Duan, Huafang Jiang, Manting Xu, Holger Prokisch, Fang Fang   +21 more
wiley   +1 more source

High‐Resolution MRI Revealed Different Etiology‐Specific Associations With Cerebral Infarction in Adult Moyamoya Vasculopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective High‐resolution MRI enables detailed assessment of intracranial vessel wall pathology in moyamoya vasculopathy. We aimed to classify adult moyamoya vasculopathy etiologies using high‐resolution MRI and to examine subtype‐specific associations between high‐resolution MRI features and ischemic infarction.
Guangsong Han, Jiachun Pan, Yuehui Hong, Xiaoyuan Fan, Ming Yao, Lixin Zhou, Yicheng Zhu, Feng Feng, Jun Ni   +8 more
wiley   +1 more source

Choroid Plexus Enlargement and USPIO‐Based Inflammatory Feature in Cerebral Small Vessel Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective The choroid plexus (CP) is a key component of the blood–cerebrospinal fluid barrier (BCSFB), but its mechanism of action in cerebral small vessel disease (CSVD) remains unclear. This study investigated CP volume (CPV) alterations and their association with conventional imaging markers in CSVD and explored the underlying role of ...
Yongqiang Qu, Xiaoning Ren, Cuihua Fan, Chun Li, Lijie Zhang, Zaiqiang Zhang, Shaowu Li, Zhongmeng Lai, Bin Cai, Ying Fu, Yi Lin, Zhibao Zhu   +11 more
wiley   +1 more source

Usefulness of intravoxel incoherent motion MRI for visualizing slow cerebrospinal fluid motion

Fluids and Barriers of the CNS, 2023
Background In the cerebrospinal fluid (CSF) dynamics, the pulsations of cerebral arteries and brain is considered the main driving force for the reciprocating bidirectional CSF movements.
Shigeki Yamada, Shinnosuke Hiratsuka, Tomohiro Otani, Satoshi Ii, Shigeo Wada, Marie Oshima, Kazuhiko Nozaki, Yoshiyuki Watanabe   +7 more
doaj   +1 more source