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View article: Predictors of Survival in Friedreich's Ataxia: A Prospective Cohort Study
Predictors of Survival in Friedreich's Ataxia: A Prospective Cohort Study Open
Background Friedreich's ataxia (FA) is a rare multisystemic disorder which can cause premature death. Objectives To investigate predictors of survival in FA. Methods Within a prospective registry established by the European Friedreich's At…
View article: The comorbidity and co-medication profile of patients with progressive supranuclear palsy
The comorbidity and co-medication profile of patients with progressive supranuclear palsy Open
Background Progressive supranuclear palsy (PSP) is usually diagnosed in elderly. Currently, little is known about comorbidities and the co-medication in these patients. Objectives To explore the pattern of comorbidities and co-medication i…
View article: Onset features and time to diagnosis in Friedreich´s Ataxia
Onset features and time to diagnosis in Friedreich´s Ataxia Open
Background: In rare disorders diagnosis may be delayed due to limited awareness and unspecific presenting symptoms. Herein, we address the issue of diagnostic delay in Friedreich´s Ataxia (FRDA), a genetic disorder usually caused by homozy…
View article: Onset features and time to diagnosis in Friedreich's Ataxia
Onset features and time to diagnosis in Friedreich's Ataxia Open
Background: In rare disorders diagnosis may be delayed due to limited awareness and unspecific presenting symptoms. Herein, we address the issue of diagnostic delay in Friedreich´s Ataxia (FRDA), a genetic disorder caused by homozygous GAA…
View article: Friedreich and dominant ataxias: quantitative differences in cerebellar dysfunction measurements
Friedreich and dominant ataxias: quantitative differences in cerebellar dysfunction measurements Open
Background Sensitive outcome measures for clinical trials on cerebellar ataxias are lacking. Most cerebellar ataxias progress very slowly and quantitative measurements are required to evaluate cerebellar dysfunction. Methods We evaluated t…
View article: Friedreich Ataxia: current status and future prospects
Friedreich Ataxia: current status and future prospects Open
Friedreich ataxia (FA) represents the most frequent type of inherited ataxia. Most patients carry homozygous GAA expansions in the first intron of the frataxin gene on chromosome 9. Due to epigenetic alterations, frataxin expression is sig…
View article: Spinocerebellar ataxia 28: a novel AFG3L2 mutation in a German family with young onset, slow progression and saccadic slowing
Spinocerebellar ataxia 28: a novel AFG3L2 mutation in a German family with young onset, slow progression and saccadic slowing Open
Genetic testing should be considered in dominant ataxia with pyramidal tract signs and saccadic slowing.