Publications by authors named "M-J Dicaire"
Objectives: To report a novel imaging finding of bilateral dentate nuclei hyperintensities in a case of childhood-onset GAA--related ataxia (spinocerebellar ataxia 27B, SCA27B) and response to 4-aminopyridine (4-AP).
Methods: A 53-year-old woman with unsolved progressive cerebellar ataxia of childhood onset underwent clinical and imaging assessment and extensive genetic investigation.
Results: After excluding Friedreich ataxia, most common spinocerebellar ataxia-related expansions, and pathogenic variants in ataxia-related genes through exome sequencing, targeted long-range PCR and repeat-primed PCR analysis revealed a heterozygous pathogenic (GAA) expansion in Brain MRI showed bilateral dentate nuclei hyperintensities and peridentate white matter degeneration, a feature never reported before in SCA27B.
Article Synopsis
- - A study involving 34 patients from Canada, France, Austria, and Australia focused on spinocerebellar ataxia 27B, highlighting the shared symptom of episodic ataxia among these individuals.
- - The report details various episodic features experienced by the patients, indicating that the condition is not just limited to ataxia but includes other episodic symptoms as well.
- - It was found that acetazolamide, a medication often used for ataxia, proved ineffective in treating these patients, suggesting a need for alternative therapies.
Objectives: Intronic GAA repeat expansions have recently been found to be a common cause of hereditary ataxia (GAA- ataxia; SCA27B). The global epidemiology and regional prevalence of this newly reported disorder remain to be established. In this study, we investigated the frequency of GAA- ataxia in a large cohort of Brazilian patients with unsolved adult-onset ataxia.
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- Researchers identified a pathogenic GAA repeat expansion in the first intron of the gene that encodes fibroblast growth factor 14, linked to late-onset cerebellar ataxia (LOCA) in six French Canadian patients.
- The expansion was significantly associated with LOCA in both French Canadian and German populations, indicating a strong genetic link with high odds ratios.
- Analysis revealed that the expansion occurred in various percentages of patients from different backgrounds, and affected individuals showed reduced RNA and protein expression related to the condition.