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…
Researchers may have found a new therapeutic target for the management of Friedreich’s ataxia. A study, “E3 Ligase RNF126 Directly Ubiquitinates Frataxin, Promoting Its Degradation: Identification Of A Potential Therapeutic Target For Friedreich Ataxia,” was published in the journal Cell Reports. Friedrich’s ataxia is characterized by reduced expression…
People with Friedreich's ataxia (FA) have abnormalities in their thinking flexibility including the inability to predict and inhibit a verbal response, according to a study published in the journal The Cerebellum.
Equistasi, a medical device, may improve limb and gait ataxia — a loss of control of voluntary muscular movement — in patients with hereditary cerebellar ataxia, such as Friedreich’s ataxia, but more studies are necessary to confirm these findings, researchers said. The study, “A Wearable Proprioceptive Stabilizer For…
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