Publications by authors named "J Gazulla"
Introduction: Alexander disease is caused by mutations in , the glial fibrillary acidic protein gene. External laryngeal tremor has not been reported in adult-onset Alexander disease (AOAxD). The aims of this work were to report one such case and to review the literature on palatopharyngeal tremor and AOAxD.
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- - Spinocerebellar ataxia type 34 (SCA34) is a genetic disorder that leads to late-onset coordination issues and skin lesions, caused by mutations in the ELOVL4 gene, which is crucial for producing certain fatty acids important for brain health.
- - Research indicates that SCA34 patients may have lower levels of important fatty acids (C28, C30, C32, C34, and C36) and show myelin damage in the brain, potentially linked to the ELOVL4 mutations.
- - The authors propose that measuring specific fatty acid levels could help identify deficiencies in SCA34, and suggest that treatment with these fatty acids might improve symptoms, similar to treatments used for other
Potassium channels (KCN) are transmembrane complexes that regulate the resting membrane potential and the duration of action potentials in cells. The opening of KCN brings about an efflux of K ions that induces cell repolarization after depolarization, returns the transmembrane potential to its resting state, and enables for continuous spiking ability. The aim of this work was to assess the role of KCN dysfunction in the pathogenesis of hereditary ataxias and the mechanisms of action of KCN opening agents (KCO).
View Article and Find Full Text PDFIntronic GAA repeat expansions are a common cause of ataxia syndromes with neuropathy and bilateral vestibulopathy.
J Neurol Neurosurg Psychiatry
January 2024
Article Synopsis
- Scientists found that a gene called FGF14, which has a part that repeats a sequence (GAA), is often related to a condition called ataxia where people have trouble with balance and coordination.
- They studied 45 patients who had symptoms similar to another condition called CANVAS, and found that 38% of them had these GAA repeat expansions.
- It seems that patients with these repeat expansions might have different symptoms and family histories compared to those without, suggesting it’s important to check for this when diagnosing ataxia.
Background And Purpose: Spinocerebellar ataxia type 15 (SCA15) is a degenerative, adult onset autosomal dominant cerebellar ataxia, caused almost exclusively by deletions in the inositol 1,4,5 triphosphate receptor type 1 (ITPR1) gene (ITPR1). ITPR1 mediates calcium release from the endoplasmic reticulum, and particularly abounds in Purkinje cells. It plays a pivotal role in excitatory and inhibitory actions on Purkinje cells, and alterations in their balance cause cerebellar dysfunction in ITPR1 knockout mice.
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