Results 101 to 110 of about 123,648 (399)

Resilience to Endoplasmic Reticulum Stress Mitigates Membrane Hyperexcitability Underlying Late Disease Onset in a Murine Model of SCA6

Annals of Neurology, EarlyView.
Objective An enduring puzzle in many inherited neurological disorders is the late onset of symptoms despite expression of function‐impairing mutant protein early in life. We examined the basis for onset of impairment in spinocerebellar ataxia type 6 (SCA6), a canonical late‐onset neurodegenerative ataxia which results from a polyglutamine expansion in ...
Haoran Huang, Taylor L. Charron, Min Fu, Miranda Dunn, Deborah M. Jones, Praveen Kumar, Satoshi Ishishita, Allan‐Hermann Pool, Ashwinikumar Kulkarni, Genevieve Konopka, Vikram G. Shakkottai   +10 more
wiley   +1 more source

Motor priming induces changes in resting state dynamics in cerebellum of writer’s cramp dystonia: insights for clinical therapies

Dystonia
BackgroundWriter’s cramp (WC) is an adult-onset focal dystonia that impairs hand and arm movements during writing tasks. Previous studies have identified abnormal resting state connectivity between the basal ganglia and cerebellum in WC.
Patrick J. Mulcahey, Michael Fei, James T. Voyvodic, James T. Voyvodic, Michael W. Lutz, Noreen Bukhari-Parlakturk, Noreen Bukhari-Parlakturk   +6 more
doaj   +1 more source

Five-year follow-up of bilateral stimulation of the subthalamic nucleus in advanced Parkinson's disease [PDF]

, 2003
Background: Although the short-term benefits of bilateral stimulation of the subthalamic nucleus in patients with advanced Parkinson's disease have been well documented, the long-term outcomes of the procedure are unknown. Methods: We conducted a five-
Krack, P., Batir, A., Van Blercom, N., Chabardes, S., Fraix, V., Ardouin, C., Koudsie, A., Limousin, P.D., Benazzouz, A., LeBas, J.F., Benabid, A.-L., Pollak, P.   +11 more
core   +4 more sources

The Phenotypic Spectrum of Sporadic Creutzfeldt‐Jakob Disease Cortical Subtype

Annals of Neurology, EarlyView.
Objective The objective of this study was to characterize the phenotypic spectrum of the rare sporadic Creutzfeldt‐Jakob disease cortical subtype (sCJDMM/MV2C) in a large multicentric autopsy cohort. Methods We evaluated clinical histories, biofluid markers, brain diffusion‐weighted (DW)‐magnetic resonance imaging (MRI), and electroencephalogram (EEG ...
Simone Baiardi, Claudia Marina Vargiu, Brian S. Appleby, Marcelo Barria, Giuseppe Mario Bentivenga, Ignazio Calì, Benedetta Carlà, Mark Cohen, Armin Giese, Jochen Herms, Aino‐Minerva Kortelainen, Anna Ladogana, Angela Mammana, Diane Ritchie, Otto Windl, Sabina Capellari, Piero Parchi   +16 more
wiley   +1 more source

Neurorehabilitation in dystonia care: key questions of who benefits, what modalities, and when to intervene

Dystonia
Dystonia causes involuntary, patterned movements and posturing, often leading to disability, pain, and reduced quality-of-life. Despite standard treatments such as botulinum toxin (BoNT) injections, oral medications, and deep brain stimulation therapy ...
Hikaru Kamo, Hikaru Kamo, Koichi Nagaki, Koichi Nagaki, Alison R. Kraus, Lisa Warren, Aparna Wagle Shukla   +6 more
doaj   +1 more source

Multiplex ligation-dependent probe amplification (MLPA) analysis is an effective tool for the detection of novel intragenic PLA2G6 mutations: Implications for molecular diagnosis [PDF]

, 2010
Phospholipase associated neurodegeneration (PLAN) comprises a heterogeneous group of autosomal recessive neurological disorders caused by mutations in the PLA2G6 gene. Direct gene sequencing detects 85% mutations in infantile neuroaxonal dystrophy.
Brady, Angela F, Crompton, Danielle, De Gressi, Susanna, Foster, Kathleen, Hardy, Carol, Hughes, Imelda, Kurian, Manju A, Lunt, Peter, MacPherson, Lesley, Maher, Eamonn R, McDonald, Fiona, Morgan, Neil V, Pike, Michael G, Rehal, Pauline K, Smith, Matthew   +14 more
core   +1 more source

Probabilistic Lesion Mapping to Optimize Thalamotomy Targets for Focal Hand Dystonia

Annals of Neurology, EarlyView.
Objective Focal hand dystonia (FHD) severely impairs task‐specific motor control, yet the optimal surgical target for stereotactic intervention remains uncertain. This study aimed to identify the precise thalamic lesion site associated with symptomatic improvement and to clarify its network connectivity. Methods We retrospectively analyzed 164 patients
Masahiko Nishitani, Shiro Horisawa, Konstantin Butenko, Hiroki Togo, Arun Garimella, William Drew, Melissa Chua, Esraa Shaban, Takakazu Kawamata, Takaomi Taira, Andreas Horn, Michael D. Fox, Takashi Hanakawa   +12 more
wiley   +1 more source

Oral medication treatment patterns in blepharospasm and Meige syndrome: a multi-institutional TriNetX study

Dystonia
BackgroundBlepharospasm (BSP) and Meige Syndrome (MeS) are focal dystonias frequently associated with disability and reduced quality of life. While botulinum neurotoxin is the standard of care treatment for these conditions, they only partially and ...
Rachel J. Heo, Nitai Mukhopadhyay, Caileigh Dintino, Ahmed Negida, Matthew J. Barrett, Brian D. Berman   +5 more
doaj   +1 more source

Correction to: Long-term effects of bilateral pallidal deep brain stimulation in dystonia: a follow-up between 8 and 16 years [PDF]

, 2021
Patricia Krause, S. Völzmann, Siobhán Ewert, Andreas Kupsch, Gerd‐Helge Schneider, Andrea A. Kühn   +5 more
openalex   +1 more source

A Core Head, Neck, and Neuroanatomy Syllabus for Physical Therapy Student Education

Clinical Anatomy, EarlyView.
ABSTRACT Head, neck, and neuroanatomy are essential components of physical therapy education due to their broad clinical applications. Detailed syllabi exist for medical students, yet none have been developed for physical therapy. This study aimed to produce an International Federation of Associations of Anatomists core head, neck, and neuroanatomy ...
Stephanie J. Woodley, Brooke Willoughby, Alexandra L. Webb, Natasha A. M. S. Flack, Laura Y. Whitburn   +4 more
wiley   +1 more source