A type of compound called HDAC inhibitors show promise as therapy for Friedreich’s ataxia, according to two researchers at The Scripps Research Institute in California. However, current drug candidates need to be improved to be suitable for use in a chronic condition such as Friedreich’s ataxia. In the study,…
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Friedreich’s ataxia (FRDA) stems from abnormal DNA code expansions in the Frataxin (FXN) gene that collectively reduce the expression of the FXN protein. A new study indicates that small RNA and DNA molecules can interact with FXN repeats to block the formation of the abnormal DNA 3D structures that could be…
Voager Therapeutics has announced that its Friedreich’s ataxia program, VY-FXN01, is taking steps to initiate preclinical tests of its safety and effectiveness, the company expects to achieve in a two-year period the needed requirements to proceed to treatment testing in Friedreich’s ataxia patients. “Voyager’s exceptional performance and accomplishments during…
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Turkish Scientists Find Signs of FA and SCA in Patients Diagnosed with Hereditary Cerebellar Ataxia
A Turkish study has classified the genetic and observable characteristics of Friedreich’s ataxia (FA) and spinocerebellar ataxia (SCA) in patients diagnosed with hereditary cerebellar ataxia. The study, “Determination of Genotypic and Phenotypic Characteristics of Friedreich’s Ataxia and Autosomal Dominant Spinocerebellar Ataxia Types 1, 2, 3, and 6”, appeared in the…
Researchers at Italy’s IRCCS Santa Lucia Foundation have found that cerebellar atrophy can affect brain structures related to emotions, thinking and memory, which may in part explain ataxia symptoms. Their results suggest that identifying structural alterations in the cerebellum via imaging can help detect cerebellar degeneration and ataxia. These observations in their study, “Impact of…
Friedreich’s ataxia patients’ cognitive decline is linked to changes in brain networks — but the changes go beyond the movement-related cerebellum and spinal cord neuron degeneration associated with the disease, a study suggests. The findings led the research team to suggest that Friedreich’s ataxia is a multisystem disorder. The implication is…
Identifying the underlying cause, and setting a diagnosis of ataxia is crucial, since therapies are available for some cases of immune-mediated or genetically acquired ataxias. A review of all diagnoses among a large sample of ataxia patients revealed that familial ataxias, including Friedreich’s ataxia, represent only a small proportion of…
The selective degeneration of certain neurons in patients with Friedreich’s ataxia may be explained by the effect that the lack of frataxin has on nervous system cells called astrocytes. Researchers discovered that mice, which grew up without frataxin, had abnormal astrocytes in their cerebellum, while those cells in the front of…
A case report suggests that Friedreich’s ataxia can manifest as abnormal voluntary eye movements, rather than the typical loss of gait and limb control. To reduce the risk of misdiagnosis, researchers behind the report urge neurologists to bear in mind that the symptoms of the disease can vary widely, possibly…
An article in the medical journal The Lancet Neurology questions the usefulness of natural history studies in designing better clinical trials and improved treatments for Friedreich’s ataxia (FA). Natural history studies follow patients for several years in order to understand the natural course a disease takes as…
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