Results 101 to 110 of about 71,310 (300)

The Neuropsychiatry of Hyperkinetic Movement Disorders: Insights from Neuroimaging into the Neural Circuit Bases of Dysfunction

Tremor and Other Hyperkinetic Movements, 2013
Background: Movement disorders, particularly those associated with basal ganglia disease, have a high rate of comorbid neuropsychiatric illness.Methods: We consider the pathophysiological basis of the comorbidity between movement disorders and ...
Bradleigh D. Hayhow, Islam K. Hassan, Jeffrey C. Looi, Francesco Gaillard, Dennis Velakoulis, Mark Walterfang   +5 more
doaj   +1 more source

A 17 Year Old With Developmental Delay Presenting With Increasing Confusion and Imbalance

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Methylmalonic acidemia is an autosomal recessive genetic disorder primarily caused by defects in methylmalonyl‐CoA mutase and cobalamin (vitamin B12) metabolism. These defects disrupt the tricarboxylic acid cycle and oxidative phosphorylation, leading to the abnormal accumulation of metabolic products such as methylmalonic acid, propionic acid,
Wei Zhao, Yingli Zhang, Hongliang Zheng
wiley   +1 more source

Physiology of the Basal Ganglia and Pathophysiology of Parkinson's Disease [PDF]

Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques, 1987
ABSTRACT:This paper reviews current concepts concerning the anatomical organization and functions of the basal ganglia focusing mainly on the role of the basal ganglia in control of movement. Results of several studies which have been carried out on patients with Parkinson's disease are also reviewed and discussed as examples of altered normal ...
openaire   +2 more sources

Evidence for segregated and integrative connectivity patterns in the human basal ganglia

, 2008
Detailed knowledge of the anatomy and connectivity pattern of cortico-basal ganglia circuits is essential to an understanding of abnormal cortical function and pathophysiology associated with a wide range of neurological and neuropsychiatric diseases. We
Kherif, Ferath, Parker, G.J., Frackowiak, R., Draganski, Bogdan, Frackowiak, R.S., Parker, Geoff J M, Alexander, D., Draganski, B. ; https://orcid.org/, Cook, Philip A., Deichmann, Ralf, Cook, P., Parker, Geoffrey J. M., Parker, G., Deichmann, R., Alexander, Daniel C., Alexander, D.C., Ashburner, J., Frackowiak, Richard S. J., Kherif, F., Klöppel, Stefan, Frackowiak, Richard S J, Klöppel, S., Cook, P.A., Ashburner, John, Draganski, B.   +24 more
core   +1 more source

Onasemnogene Abeparvovec in Patients With SMA: Interim Results of the RESTORE Registry in Japan

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective There are limited real‐world data regarding the safety and effectiveness of onasemnogene abeparvovec (OA; Zolgensma) infusion, a one‐time gene replacement therapy, for Japanese patients with spinal muscular atrophy (SMA). We aimed to improve understanding of the real‐world outcomes for OA in Japan.
Kayoko Saito, Kamal Benguerba, Ken Tsuchida, Kazushige Yazawa, Isao Tsumiyama, Hiromitsu Kayama, Sandra P. Reyna, Farid Khan, Richard S. Finkel   +8 more
wiley   +1 more source

p75NTR in Huntington's disease: beyond the basal ganglia

Oncotarget, 2015
Huntington’s disease (HD) is a fatal neurodegenerative disorder with a characteristic phenotype including chorea and dystonia, uncoordinated fine movements, cognitive decline and psychiatric disturbances. Even though the clinical diagnosis of HD relies on the manifestation of motor abnormalities, the associated memory ...
Brito, Verónica, Ginés Padrós, Silvia
openaire   +3 more sources

Subclinical Optic Nerve Involvement in Radiologically Isolated Syndrome: Multimodal Detection and Diagnostic Impact

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives We aimed to determine the frequency of subclinical optic nerve (ON) lesions using MRI, optical coherence tomography (OCT), and visual evoked potentials (VEP) in radiologically isolated syndrome (RIS), and to assess their diagnostic and prognostic significance.
Christine Lebrun‐Frenay, Cassandre Landes‐Château, Lydiane Mondot, Mikael Cohen, Margherita Popolo, Jérôme de Seze, Bertrand Bourre, Françoise Durand‐Dubief, Olivier Casez, Orhun H. Kantarci, Aksel Siva, Stephanie Baillif, Darin T. Okuda, Letizia Leocani   +13 more
wiley   +1 more source

Cognitive and Neuroimaging Divergence Between Juvenile and Adult FUS Amyotrophic Lateral Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder characterized by progressive motor neuron degeneration. Fused in sarcoma (FUS)‐associated juvenile ALS (jALS) represents a distinct and aggressive subgroup with rapid deterioration and poor prognosis.
Alexandra V. Jürs, Marcel Naumann, Annaliis Lehto, Hanna Schön, Jens Kurth, Johannes Prudlo, Andreas Hermann, Elisabeth Kasper   +7 more
wiley   +1 more source

Cognitive and neuropsychiatric disorders in extrapyramidal diseases

Неврология, нейропсихиатрия, психосоматика, 2014
The affliction of basal ganglia and their associations, which underlies extrapyramidal diseases, leads not only to diverse movements, but also to a broad spectrum of neuropsychological disorders, including cognitive, emotional-personality, and psychotic ...
O. S. Levin, M. A. Anikin, E. E. Vasenina   +2 more
doaj   +1 more source

A 57‐Year‐Old Male With Behavioral Variant Frontotemporal Dementia and MATR3 and NOS3 Mutations

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT This report presents a case of behavioral variant frontotemporal dementia caused by mutations in the MATR3 and NOS3 genes, aiming to analyze its clinical manifestations and genetic characteristics. For a case presenting with personality changes and gait abnormalities as the initial symptoms, this study conducted a comprehensive analysis of its
Feifei Lin, Saie Huang
wiley   +1 more source