Results 141 to 150 of about 47,077 (263)

Early and Progressive Spinal Cord Atrophy in Spinocerebellar Ataxia Type 1

Movement Disorders, EarlyView.
Abstract Background Spinocerebellar ataxia type 1 (SCA1) is a rare, autosomal dominant neurodegenerative disorder characterized by progressive cerebellar and brainstem degeneration. Previous studies have shown that spinal cord atrophy is also a key aspect of SCA1 neuropathology.
Colette J.M. Reniers, Teije H. van Prooije, Kirsten C.J. Kapteijns, Jack J.A. van Asten, Caterina Mariotti, Lidia Sarro, Anna Nigri, Marina Grisoli, Giulia Coarelli, Alexandra Durr, Tom Scheenen, Bart van de Warrenburg   +11 more
wiley   +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

Rehabilitation of High-Level Dynamic Balance Skills in an Individual With Significant Nonprogressive Cerebellar Atrophy: Case Report. [PDF]

Arch Rehabil Res Clin Transl
Croarkin E, Shrader JA, Shahim P, Yonter S, Toro C, Zampieri C.   +5 more
europepmc   +1 more source

[18F]Fluorodeoxyglucose positron emission tomography ([18F]FDG PET) Characterizes Neurodegeneration Levels Across the α‐Synucleinopathy Continuum

Movement Disorders, EarlyView.
Abstract Background [18F]Fluorodeoxyglucose positron emission tomography ([18F]FDG PET) represents an endorsed neurodegeneration biomarker in neuronal α‐synucleinopathies. Idiopathic/isolated rapid eye movement (REM) sleep behavior disorder (iRBD) represents a prodromal stage of such disorders.
Beatrice Orso, Ignacio Roura, Pietro Mattioli, Francesco Famà, Federico Massa, Luigi Lorenzini, Andrea Brugnolo, Nicola Girtler, Mattia Losa, Stefano Raffa, Luca Sofia, Monica Roascio, Gabriele Arnulfo, Silvia Morbelli, Matteo Pardini, Dario Arnaldi   +15 more
wiley   +1 more source

Specific Glutamylation Patterns of the Cytoskeleton Confer Neuroresistance to Lobe X of the Cerebellum in a Model of Childhood-Onset Neurodegeneration with Cerebellar Atrophy. [PDF]

Int J Mol Sci
Hernández-Pérez C, Calderón-García AA, Pérez-Boyero D, González-Núñez V, Weruaga E, Díaz D.   +5 more
europepmc   +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

Ocular Telangiectasia and Cerebellar Atrophy in Ataxia-Telangiectasia (Louis-Bar Syndrome). [PDF]

Tremor Other Hyperkinet Mov (N Y)
Gattermeyer-Kell L, Kern D, Kögl M, Schwingenschuh P.   +3 more
europepmc   +1 more source

Metabolic and Volumetric Alterations in the Basal Ganglia and the Cerebellum in Dopa‐Responsive Dystonia in Symptomatic and Asymptomatic GCH1 Mutation Carriers

Movement Disorders, EarlyView.
ABSTRACT Background Dopa‐responsive dystonia is caused by pathogenic variants in the GCH1 gene. Although its clinical features and reduced penetrance are known, in vivo metabolic and structural alterations in symptomatic (sMC) and asymptomatic mutation carriers (aMC) remain poorly understood.
Jannik Prasuhn, Leon van Well, Marta M. Pokotylo, Feline Hamami, Joke‐Lina Aßmann, Katja Lohmann, Maximilian G. Ködderitzsch‐Mertins, Julia Henkel, Jan Uter, Alexander Münchau, Christine Klein, Anne Weissbach, Norbert Brüggemann   +12 more
wiley   +1 more source

AAV-based gene therapy ameliorates neurological deficits in a mouse model of childhood-onset neurodegeneration with cerebellar atrophy. [PDF]

Mol Ther
Wada H, Hama N, Hasegawa K, Takamuku C, Yoshida M, Omura M, Araki A, Kuwako KI.   +7 more
europepmc   +1 more source

BEND4 as a Candidate Gene for an Infection-Induced Acute Encephalopathy Characterized by a Cyst and Calcification of the Pons and Cerebellar Atrophy. [PDF]

Mol Syndromol, 2022
Kara B, Uyguner O, Maraş Genç H, İşlek EE, Kasap M, Toksoy G, Akpınar G, Uyur Yalçın E, Anık Y, Üstek D.   +9 more
europepmc   +1 more source