Results 211 to 220 of about 81,081 (302)

Acupuncture for primary autoimmune cerebellar ataxia: A CARE-compliant case report with two-year follow-up. [PDF]

Medicine (Baltimore)
Xu Z, Xu F, Li G, Wu L, Guo H, Wang S.
europepmc   +1 more source

A Next‐Generation ELISA for the Detection of Anti‐(Para)Nodal Antibodies in Autoimmune Nodopathy and COVID‐19 Vaccinated Individuals

Journal of the Peripheral Nervous System, Volume 31, Issue 2, June 2026.
ABSTRACT Background and Aims Autoimmune nodopathy (AN) is a subtype of antibody‐mediated inflammatory neuropathy targeting the node of Ranvier (NoR). Diagnosis requires detection of anti‐(para)nodal autoantibodies like contactin‐1 and neurofascin‐155 via ELISA or cell‐based assays, but protocols are inconsistent. Causes of node autoimmunity are unknown,
Luise Appeltshauser, Chiara Ruprecht, Julia Reusch, Juliane Mees, Helena Glenewinkel, Claudia Sommer, Manuel Krone, Isabell Wagenhäuser, Kathrin Doppler, Nils Petri   +9 more
wiley   +1 more source

Chorea in a Patient With GRID2-Related Disorder: Expanding the Phenotypic Spectrum Beyond Cerebellar Ataxia and Tonic Upgaze. [PDF]

J Mov Disord
Bharanidharan G, Vijayaraghavan A, Krishnan S, Divya KP, Sundaram S.   +4 more
europepmc   +1 more source

Biallelic Nonsense Variants in NEFL May Cause a Non‐Length‐Dependent Neuropathy With Temporal Dispersion on Nerve Conduction Studies

Journal of the Peripheral Nervous System, Volume 31, Issue 2, June 2026.
ABSTRACT Background and Aims Pathogenic variants in NEFL, the gene that encodes the light polypeptide subunit of neurofilaments, are an uncommon cause of autosomal recessive Charcot‐Marie‐Tooth (CMT) disease. In this study, we describe the clinical and electrophysiological features of two families with early‐onset CMT carrying nonsense variants in the ...
Marcus Vinícius Vieira da Silva Gomes, Pedro José Tomaselli, Wilson Marques Jr   +2 more
wiley   +1 more source

Neuropathy in GAA-FGF14 Late-Onset Cerebellar Ataxia (SCA27B): Prevalence and Characteristics. [PDF]

Eur J Neurol
Theuriet J, Paulet L, Acket B, Ory-Magne F, Belbachir H, Chanson JB, Bouhour F, Laurencin C, Froment Tilikete C, Lardeux P, Clement G, Hocquel A, Renaud M, Bonnet C, Marelli C, Weber S, Comet C, Azulay JP, Fluchère F, Coarelli G, Heinzmann A, Ewenczyk C, Verny C, Guillet-Pichon V, Guyant-Marechal L, Desjardins C, Riou A, Degos B, Mercier S, Goizet C, Degoutin M, Angelini C, Laurens B, Degardin A, Carrière N, Le Guyader G, Schneider V, Dupont G, Thomas Q, Merindol M, Besse-Pinot E, Méneret A, Roze E, Durr A, Thobois S, Anheim M, Wirth T, Pegat A.   +47 more
europepmc   +1 more source

Understanding the Phenotypic Heterogeneity Within the Sporadic Creutzfeldt–Jakob Disease MV1 Subtype

Neuropathology and Applied Neurobiology, Volume 52, Issue 3, June 2026.
We present the clinical, pathological and prion biophysical features of three atypical cases of the MV1 subtype of sporadic Creutzfeldt–Jakob disease (sCJD). We propose that these heterozygous cases exist on a spectrum ranging from MM1‐like to VV1‐like phenotypes and recommend that subtyping be performed at pH 6.9 to avoid missing atypical or mixed ...
Satish K. Nemani, Leonardo M. Cortez, Jennifer Myskiw, Ignazio Cali, Stephanie A. Booth, Gerard H. Jansen, Valerie L. Sim   +6 more
wiley   +1 more source

"Mini Molar Tooth" Sign in POLR3B-Associated Cerebellar Ataxia with Hypomyelinating Leukodystrophy. [PDF]

Mov Disord Clin Pract
Marsili L, Kauffman MA, Talavera de la Esperanza B, Yu Z, Gilbert DL, Espay AJ.   +5 more
europepmc   +1 more source

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

Clinical Anatomy, Volume 39, Issue 4, Page 436-460, May 2026.
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

Movement Disorders in Hereditary Cerebellar Ataxia. [PDF]

Mov Disord Clin Pract
Damásio J, Costa S, Moura J, Santos M, Lemos C, Mendes A, Oliveira J, Barros J, Sequeiros J.   +8 more
europepmc   +1 more source

A Chinese X‐Linked Adrenoleukodystrophy Patient With Atypical Clinical Symptoms Contained an Undefined ABCD1 Mutation—A Case Report and Literature Review

Clinical Case Reports, Volume 14, Issue 5, May 2026.
ABSTRACT X‐linked adrenoleukodystrophy (X‐ALD) is a genetic peroxisome disorder linked to ABCD1 mutation, characterized by rapid and complex clinical symptoms. We here report a case of X‐ALD manifesting solely as dysarthria, associated with an undefined mutation in the ABCD1 gene, underscoring the necessity of atypical clinical symptoms in X‐ALD ...
Fu‐Qing Zhang, Zhuoran Zhang, Dongliang Wang, Ying Yang, Xin Li   +4 more
wiley   +1 more source