Nerve Ultrasound Detects Nerve Atrophy in Patients With Ataxia-Telangiectasia: A Pilot Study.

Introduction/aims: Ataxia-telangiectasia (A-T) is a genetic multisystem neurodegenerative disorder characterized by cerebellar ataxia, oculocutaneous telangiectasia, extrapyramidal involvement, peripheral sensorimotor neuropathy, immunodeficiency, pulmonary disease, and an increased risk of malignancy that ultimately determines the shortened lifespan in many patients. A-T nerve ultrasonographic characteristics remain underexplored. This pilot study aimed to characterize the ultrasonographic morphology of peripheral nerves in patients with A-T.

Autosomal Recessive Ataxias in Northeast Brazil: A Regional Multicenter Case Series.

Unlabelled: Hereditary cerebellar ataxias are a diverse group of neurodegenerative disorders characterized by progressive cerebellar dysfunction and possible multisystemic involvement. While significant advancements have been made in understanding autosomal dominant cerebellar ataxias (ADCAs), autosomal recessive cerebellar ataxias (ARCAs) remain less extensively investigated than autosomal dominant ataxias, particularly in regions with high consanguinity. This study aimed to characterize 57 patients with ARCAs in Ceará, northeast Brazil.

Polyneuropathy in Cerebrotendinous Xanthomatosis: Diagnostic Challenges and Potential for Therapeutic Intervention.

Cerebrotendinous xanthomatosis (CTX) is a rare metabolic disorder caused by mutations in the gene, leading to cholestanol accumulation in various tissues, including peripheral nerves. Polyneuropathy is an underrecognized feature with considerable variability in clinical presentation and neurophysiological findings in CTX. This review assesses the prevalence, clinical manifestations, and diagnostic methodologies of polyneuropathy in CTX, exploring its underlying mechanisms and potential treatment outcomes.

Spinal cord compression by cystic IgG4-related spinal pachymeningitis mimicking neurocysticercosis: a case report.

Background: To report a case of IgG4-related pachymeningitis presenting with cystic lesions mimicking neurocysticercosis.

Case Presentation: A 40-year-old female patient with tetraparesis, dysphagia and dysphonia was evaluated with clinical examination, magnetic resonance imaging, and meningeal biopsy. Magnetic resonance imaging (MRI) revealed diffuse pachymeningeal enhancement involving the cranial, cervical, thoracic, and lumbar segments with spinal cord compression and cystic lesions.

Myoclonus improvement after seizures in progressive myoclonic epilepsy type 7: a case report.

Background: Progressive Myoclonic Epilepsy (PME) is a group of rare diseases that are difficult to differentiate from one another based on phenotypical characteristics.

Case Report: We report a case of PME type 7 due to a pathogenic variant in KCNC1 with myoclonus improvement after epileptic seizures.

Discussion: Myoclonus improvement after seizures may be a clue to the diagnosis of Progressive Myoclonic Epilepsy type 7.

Expanding the phenotypic spectrum of -related leucoencephalopathy and ataxia.

Mutations in are a rare cause of autosomal recessive leucoencephalopathy with ataxia and specific imaging abnormalities. Very few cases have been reported to date. Here, we describe the clinical and imaging phenotype of 12 additional patients and expand the known phenotypic spectrum of this disorder.