Multiple sclerosis is a common inflammatory demyelinating disease of the central nervous system. Although many patients present permanent symptoms, a number of them suffer of deficits of paroxysmal character. One unusual manifestation of paroxysmal nature is episodes of dysarthria and ataxia known as PDA (paroxysmal dysarthria and ataxia). The mechanism behind this phenomenon, although not well understood, is hypothesised to relate with ephaptic activation of the neuroaxons within the demyelination plaques. Just a few patients worldwide have been reported at present. These symptoms can be effectively treated with anti-seizure medicines. We present the case of a female 48-year-old patient who shortly after an MS diagnosis developed paroxysmal dysarthria and ataxia related to a midbrain lesion and was eventually treated with carbamazepine.
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Neurol Genet
February 2025
Division of Neurology, Department of Pediatrics, Children's Hospital Los Angeles, CA; and.
Objectives: We detail a case of recurrent, postinfectious, cerebellar ataxia associated with a likely pathogenic previously documented gene variant in .
Methods: The patient was identified after her second hospitalization for postinfectious cerebellar ataxia. Genetic testing was performed after discharge.
Brain Commun
January 2025
Neurogenetics Department, The Cyprus Institute of Neurology and Genetics, Nicosia 2371, Cyprus.
Dominantly inherited intronic GAA repeat expansions in the fibroblast growth factor 14 gene have recently been shown to cause spinocerebellar ataxia 27B. Currently, the pathogenic threshold of (GAA) repeat units is considered highly penetrant, while (GAA) is likely pathogenic with reduced penetrance. This study investigated the frequency of the GAA repeat expansion and the phenotypic profile in a Cypriot cohort with unresolved late-onset cerebellar ataxia.
View Article and Find Full Text PDFIntroduction: COQ4 mutation often leads to a fatal multi-system disease in infants. Recently, it was reported that the biallelic COQ4 variants may be a potential cause of hereditary spastic paraplegia (HSP). This study aims to describe the clinical features and genotype of the COQ4 associated hereditary spastic paraplegia (HSP).
View Article and Find Full Text PDFBMC Neurol
January 2025
Faculty of Medicine, Department of Neurology, Al-Quds University, Jerusalem, Palestine.
Background: Vanishing white matter disease (VWMD) is a rare autosomal recessive leukoencephalopathy. It is typified by a gradual loss of white matter in the brain and spinal cord, which results in impairments in vision and hearing, cerebellar ataxia, muscular weakness, stiffness, seizures, and dysarthria cogitative decline. Many reports involve minors.
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