Results 181 to 190 of about 2,928,215 (296)

A Case of Functional Movement Disorder Preceding Right Temporal Predominant Frontotemporal Degeneration. [PDF]

Mov Disord Clin Pract
So I, Murgai A, Finger EC, Restrepo-Martinez M.   +3 more
europepmc   +1 more source

Validation of a Cellular Imaging‐Based Method as a Potential Biomarker for SPG4 Hereditary Spastic Paraplegia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Hereditary Spastic Paraplegia (HSP) comprises a group of rare genetic diseases characterized by length‐dependent axonal degeneration of the corticospinal tracts and dorsal columns, whose main clinical feature is spastic gait. Pathogenic variants in the SPG4 gene cause Spastic Paraplegia Type 4 (SPG4‐HSP), the most common form of HSP.
Gaia Fattorini, Valerio Licursi, Gianmarco Dalla Zanna, Flavio Dal Canto, Melissa Barghigiani, Nunzio Setola, Salvatore Rossi, Antonio Funcis, Filippo M. Santorelli, Gabriella Silvestri, Carlo Casali, Francesca Sardina, Cinzia Rinaldo   +12 more
wiley   +1 more source

Progressive Parkinsonism in PPP2R5D‐Related Neurodevelopmental Disorder

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT PPP2R5D‐related neurodevelopmental disorder (Houge–Janssens syndrome type 1) is a rare autosomal dominant condition characterized by macrocephaly, intellectual disability, and epilepsy. Progressive parkinsonism is an emerging adult phenotype that neurologists should be aware of since timely genetic diagnosis opens the door to disease‐modifying
Katerina Bernardi, Enrique Gonzalez Saez‐Diez, Joshua Rong, Beril Ay, Shabbir Merchant, Kathryn Yang, Darius Ebrahimi‐Fakhari   +6 more
wiley   +1 more source

Movement disorder emergencies at a tertiary-care center in West Bengal, India: Spectrum, etiologies, diagnostic implications. [PDF]

Next Res
Manna DK, Banik A, Biswas D, Pal S, Pal A, Sau A, Chakravarthy M, Benito-León J.   +7 more
europepmc   +1 more source

Re‐Purposing Sapropterin (Kuvan) for ACTA2‐Related Multisystemic Smooth Muscle Dysfunction Syndrome: A Translational Mechanistic and First‐In‐Human Therapeutic Report

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Multisystemic smooth muscle dysfunction syndrome (MSMDS) is an ultra‐rare, ACTA2‐related disorder characterized by severe cerebrovascular disease, aortic aneurysms, and smooth muscle dysfunction. Using molecular dynamics simulations and in silico drug screening, we identified that sapropterin dihydrochloride (Kuvan) is a candidate capable of ...
Moran Hausman‐Kedem, Noa Bielopolski, Vijai Krishnan, Shane Wald‐Altman, Shelly I Shrian, Omer Bar‐Yosef, Livia Kapusta, Claire Shamber, Patricia L. Musolino, Miguel Weil   +9 more
wiley   +1 more source

Neonatal developmental and epileptic encephalopathy with movement disorder and arthrogryposis: A shared phenotype across brain-expressed sodium channelopathies. [PDF]

Epilepsia
Gverdtsiteli S, Ortiz S, Brünger T, Furia F, Barba C, Bjørg-Hammer T, Borggraefe I, Caraballo R, Cirak S, Espeche A, Fazeli W, Guerrini R, Juanes M, Kassahn K, Kinali M, Krämer J, Kröll J, Herrero MCM, Oegema R, Ounap K, Peñuela O, Platzer K, Prasad AN, Pujol A, Reinson K, Represa A, Roza E, Valenzuela GR, Rodríguez-Palmero A, Sallevelt S, Sanchez-Albiusa MI, Scheffer IE, Smid C, Stafstrom CE, Stattin EL, Suarez JR, Syrbe S, Valente KD, Wagner M, Wortmann S, Gardella E, Lal D, Brunklaus A, Møller RS.   +43 more
europepmc   +1 more source

Stage‐Dependent β‐Synuclein Links MRI and Cognitive Decline in Alzheimer's Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Synaptic degeneration drives cognitive decline in Alzheimer's disease (AD), but synaptic biomarkers are scarce. Brain‐enriched β‐synuclein emerged as a synaptic damage marker. We investigated its diagnostic, prognostic, and structural correlates across the AD continuum.
Ulaş Ay, Merve Alaylioglu, Erdi Sahin, Sanem Sultan Yoruk Oner, Gulce Iskan, Gulce Cosku Yilmaz Cakan, Gozde Kizilates‐Evin, Emre Hari, Elif Kurt, Erdinc Dursun, Basar Bilgic, Hasmet Hanagasi, Hakan Gurvit, Tamer Demiralp, Duygu Gezen‐Ak, Bedia Samanci   +15 more
wiley   +1 more source

Validation of the Norwegian version of the Movement Disorder Society-Unified Parkinson's Disease Rating Scale. [PDF]

Clin Park Relat Disord
Alves G, Sørenes YS, Frantzen VH, Gjerstad MD, Bjørnestad AL, Maple-Grødem J, Forsaa EB, Hiorth YH, Herlofson K, Benjaminsen E, Bjørnarå KA, Dietrichs E, Balestrino R, Gasca-Salas C, Lin CR, Sanchez-Ferro A, Tosin MHS, Mestre TA, Kurtis MM, Martinez-Martin P, Luo S, Yu L, Stebbins GT, Goetz CG, MDS COA Translation Steering Committee.   +24 more
europepmc   +1 more source

White Matter and Perivascular Imaging Changes in Alzheimer's Disease and Cerebral Amyloid Angiopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Peak‐width of skeletonized mean diffusivity (PSMD) and diffusion tensor imaging–analysis along the perivascular space (DTI‐ALPS), reflecting white matter integrity and glymphatic function, are altered in Alzheimer's disease (AD).
Debina Laishram, Guangwei Du, Sangam Kanekar, Nandakumar Nagaraja   +3 more
wiley   +1 more source

Validation of the German Version of the Movement Disorder Society Non-Motor Scale (MDS-NMS). [PDF]

Mov Disord Clin Pract
Bendig J, Frank A, Lipska-Dieck A, Wunderlich K, Geißler-Lösch D, Wurster I, Kemmner R, Brockmann K, Luo S, Goetz CG, Stebbins GT, Martinez-Martin P, Mestre TA, Sanchez-Ferro A, Kurtis MM, Tosin MHS, Balestrino R, Lin CR, Gasca-Salas C, Reichmann H, Falkenburger BH.   +20 more
europepmc   +1 more source