Results 221 to 230 of about 80,232 (259)
American Journal of Medical Genetics Part A, Volume 200, Issue 3, Page 761-763, March 2026.
Hiromi Sumitomo +3 more
wiley +1 more source
Whole‐exome sequencing in three Iranian families identified two novel KCNJ10 variants (p.A118T, p.Y323H) associated with seizures, ataxia, developmental delay and hearing loss without renal involvement. ABSTRACT Background Mutations in the KCNJ10 gene cause SeSAME syndrome, an autosomal recessive disorder characterised by seizures, sensorineural ...
Shayan Shakeri +4 more
wiley +1 more source
ABSTRACT Objective Neurological soft signs (NSS) are minor, non‐localizable neurological abnormalities. This study aimed to investigate the factor structure of the Neurological Evaluation Scale. Material and Methods A total of 355 subjects (233 patients and 122 general population subjects). NSS were assessed using the NES.
Konstantinos N. Fountoulakis +4 more
wiley +1 more source
Clinical features of autoimmune cerebellar ataxia related to neuronal antibodies. [PDF]
Cai Y +8 more
europepmc +1 more source
Nerve Ultrasound in Patients With Friedreich Ataxia
ABSTRACT Introduction/Aims Nerve enlargement has been reported in patients with Friedreich ataxia (FRDA). The underlying cause remains unclear, and both inflammatory processes and dysmyelination have been suggested as potential mechanisms. This study was aimed at assessing nerve morphology with high‐resolution ultrasound, to identify and describe ...
Katharina Kneer +9 more
wiley +1 more source
Prolonged Anti‐Zic4 Antibody–Positive Cerebellar Degeneration Following COVID‐19 Infection
Serial MRI and SPECT revealed progressive cerebellar atrophy and worsening hypoperfusion over 2 years, despite partial clinical stabilization. These findings highlight radiological progression that exceeds symptom severity in post‐COVID anti‐Zic4 antibody–associated cerebellar degeneration.
Risa Suzuki‐Yamamoto +6 more
wiley +1 more source
Neuropsychiatric Manifestations of Degenerative Cerebellar Ataxia. [PDF]
Tamaš O +7 more
europepmc +1 more source
A domestic shorthaired cat with neurological signs compatible with a forebrain lesion was investigated with magnetic resonance imaging, revealing a mass with intracranial and extracranial components. Due to the poor prognosis the cat was euthanized, and gross and histopathological examination identified an extraskeletal osteosarcoma with its origin in ...
Jacqueline Poldy +5 more
wiley +1 more source
Capture of Longitudinal Change in Real-Life Walking in Cerebellar Ataxia Increases Patient Relevance and Effect Size. [PDF]
Seemann J +8 more
europepmc +1 more source

