Results 131 to 140 of about 47,175 (263)

Precision Medicine in Neurodegeneration with Brain Iron Accumulation (NBIA) Disorders: An Update on Emerging Treatments

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Neurodegeneration with Brain Iron Accumulation (NBIA) is a heterogeneous group of heritable, mostly recessive, progressive neurodegenerative diseases characterized by iron deposition in the basal ganglia and brainstem. There are no solid global epidemiological data on prevalence and incidence of NBIA subtypes, but registry data and ...
Susanne A. Schneider, Divyani Garg, Vassilena Iankova, Thomas Klopstock   +3 more
wiley   +1 more source

Anti-N-Methyl D-Aspartate Receptor Encephalitis Presenting with Progressive Cerebellar Atrophy. [PDF]

Ann Indian Acad Neurol
Haritha S, Sowmini PR, Varghese AM, Lakshmanan S, Velayutham SS, Jeyaraj KM, Kannan V, Saravanan RV, Krishnan M.   +8 more
europepmc   +1 more source

Regenerative Radio Electric Asymmetric Conveyer Treatment in Generalized Cerebral and Cerebellar Atrophy to Improve Motor Control: A Case Report. [PDF]

Cureus, 2022
Rinaldi S, Rinaldi C, Fontani V.
europepmc   +1 more source

Altered Cerebrospinal Fluid Tryptophan–Kynurenine Pathway Metabolism in Multiple System Atrophy

Movement Disorders, EarlyView.
Abstract Background Alterations in tryptophan–kynurenine (TRP‐KYN) metabolism, which is associated with neuroinflammation, remain unclear in multiple system atrophy (MSA). Objective The aim was to investigate cerebrospinal fluid (CSF) TRP metabolites in MSA and their associations with other biomarkers.
Ryunosuke Nagao, Kazuya Kawabata, Yasuaki Mizutani, Sayuri Shima, Akihiro Ueda, Mizuki Ito, Yasuhiro Maeda, Akihiro Mouri, Hirohisa Watanabe   +8 more
wiley   +1 more source

PTRH2 is Necessary for Purkinje Cell Differentiation and Survival and its Loss Recapitulates Progressive Cerebellar Atrophy and Ataxia Seen in IMNEPD Patients. [PDF]

Cerebellum, 2023
Picker-Minh S, Luperi I, Ravindran E, Kraemer N, Zaqout S, Stoltenburg-Didinger G, Ninnemann O, Hernandez-Miranda LR, Mani S, Kaindl AM.   +9 more
europepmc   +1 more source

Diagnostic Value of Glycocalyx Shedding in Blood for Differentiating between Parkinson's Disease and Multiple System Atrophy

Movement Disorders, EarlyView.
Abstract Background Blood–brain barrier disruption is increasingly recognized in synucleinopathies, but the role of the endothelial glycocalyx (GLX) in Parkinson's disease (PD) and multiple system atrophy (MSA) remains unclear. Objectives The aim was to determine whether plasma GLX markers differ between PD, MSA, and healthy controls (HC), relate to ...
Jonas Folke, Brian DellaValle, Mathias Lindh Jørgensen, Phillip Bredahl Mogensen, Casper Hempel, Jørgen Rungby, Anne‐Mette Hejl, Annemette Løkkegaard, Lisette Salvesen, Sara Bech, Mette Møller, Erik Hvid Danielsen, Morten Blaabjerg, Matthias Bode, Tomasz Brudek, Susana Aznar   +15 more
wiley   +1 more source

Autosomal Recessive Cerebellar Atrophy and Spastic Ataxia in Patients With Pathogenic Biallelic Variants in <i>GEMIN5</i>. [PDF]

Front Cell Dev Biol, 2022
Rajan DS, Kour S, Fortuna TR, Cousin MA, Barnett SS, Niu Z, Babovic-Vuksanovic D, Klee EW, Kirmse B, Innes M, Rydning SL, Selmer KK, Vigeland MD, Erichsen AK, Nemeth AH, Millan F, DeVile C, Fawcett K, Legendre A, Sims D, Schnekenberg RP, Burglen L, Mercier S, Bakhtiari S, Francisco-Velilla R, Embarc-Buh A, Martinez-Salas E, Wigby K, Lenberg J, Friedman JR, Kruer MC, Pandey UB.   +31 more
europepmc   +1 more source

Phenotypic Clues in Infantile‐Onset Parkinsonism‐Dystonia‐2: A Treatable Neurotransmitter Disorder

Movement Disorders Clinical Practice, EarlyView.
Sangeetha Yoganathan, Haya S. AlFaris, Lindsey Vogt, Michele Eid, Anika Menetrey, Sayoni Roy Chowdhury, Dawn Codeiro, Pradeep Krishnan, Liali Aljouda, Emily W.Y. Tam, Carolina Gorodetsky   +10 more
wiley   +1 more source

Central Nervous System Tumors in Xeroderma Pigmentosum: Five Cases and Review of the Literature

Movement Disorders, EarlyView.
Abstract Background Xeroderma pigmentosum (XP) is a rare autosomal recessive DNA‐repair disorder characterized by extreme ultraviolet radiation (UVR) sensitivity, markedly increased cutaneous malignancy risk, and progressive neurological disease in approximately one‐third of patients.
Farrah S. Bakr, Huseyin Arisoy, Alan R. Lehmann, Paola Giunti, Hiva Fassihi   +4 more
wiley   +1 more source

Identifying compound heterozygous variants in the EEFSEC gene linked to progressive cerebellar atrophy. [PDF]

J Neurodev Disord
Liu Z, He M, Luo X, Pan H, Hu J, Wan Z, Peng Y, Luo Y, Wang H, Mao X.   +9 more
europepmc   +1 more source