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Static Posture Instability as a Sensitive Biomarker for Motor Abnormalities in Pre-ataxic Spinocerebellar Ataxia Type 3 Patients.
Mov Disord
January 2025
Department of Neurology, Fujian Institute of Neurology, The First Affiliated Hospital, Fujian Medical University, Fuzhou, China.
Background: Spinocerebellar ataxia type 3 (SCA3) is a neurodegenerative disorder, with balance instability as a feature of the disease. Balance instability often manifests before the onset of obvious ataxic symptoms in patients. However, current clinical scales exhibit limited sensitivity in characterizing changes in pre-ataxic patients.
View Article and Find Full Text PDFClinical Manifestations and Treatment Responses in Pediatric Neurofascin 155-IgG4 Autoimmune Nodopathy.
Neurol Neuroimmunol Neuroinflamm
March 2025
Department of Neurology, Mayo Clinic, Rochester, MN.
Background And Objectives: While it is well characterized in adults, little is known about the clinical features of neurofascin 155-IgG4 autoimmune nodopathy (NF155-IgG4 AN) in the pediatric population. In this study, we aimed to describe the clinical features and treatment outcomes in children diagnosed with neurofascin 155-IgG4 autoimmune nodopathy (NF155-IgG4 AN).
Methods: Pediatric and adult patients with NF155-IgG4 AN were identified retrospectively through the Mayo Clinic Neuroimmunology Laboratory database.
Delayed Progression of Ataxia with a Static Cerebellar Lesion- Consider SCA27B.
Cerebellum
January 2025
Department of Neurology, Donders Institute for Brain, Cognition & Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
Repeat expansions in the fibroblast growth factor 14 gene (FGF14), associated with spinocerebellar ataxia type 27B (SCA27B), have emerged as a prevalent cause of previously unexplained late-onset cerebellar ataxia. Here, we present a patient with residual symptom of gait ataxia after complicated meningioma surgery, who presented with progressive symptoms of oculomotor disturbances, speech difficulties, vertigo and worsening of gait imbalance, twelve years post-resection. Neuroimaging revealed a surgical resection cavity in the dorsolateral side of the left cerebellar hemisphere, accompanied by gliosis in left cerebellar hemisphere extending into the vermis, extensive non-specific supratentorial periventricular white matter abnormalities, and mild atrophy of the cerebellar vermis.
View Article and Find Full Text PDFATXN10 Gene Expansions in Mexican Patients with Ataxia Without Epilepsy.
Cerebellum
January 2025
Genetics Department, National Institute of Neurology and Neurosurgery Manuel Velasco Suárez, Insurgentes Sur 3877. La Fama, Tlalpan, 14269, Mexico City, Mexico.
Spinocerebellar ataxia type 10 (SCA10) is an autosomal dominant (AD) neurodegenerative disorder prevalent in the Americas, particularly in Mexico. Clinical manifestations include progressive ataxia and epilepsy. However, it can exhibit wide phenotypic variability and even reduced penetrance.
View Article and Find Full Text PDFRecent Advances in the Genetics of Ataxias: An Update on Novel Autosomal Dominant Repeat Expansions.
Curr Neurol Neurosci Rep
January 2025
Department of Neurology and Neurosurgery, Montreal Neurological Hospital and Institute, McGill University, Montreal, QC, Canada.
Purpose Of Review: Autosomal dominant cerebellar ataxias, also known as spinocerebellar ataxias (SCAs), are genetically and clinically diverse neurodegenerative disorders characterized by progressive cerebellar dysfunction. Despite advances in sequencing technologies, a large proportion of patients with SCA still lack a definitive genetic diagnosis. The advent of advanced bioinformatic tools and emerging genomics technologies, such as long-read sequencing, offers an unparalleled opportunity to close the diagnostic gap for hereditary ataxias.
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