Cerebellar atrophy in patient with Ataxia

The word “Ataxia” is Greek and means “lack of order”. The hereditary ataxias are a highly heterogeneous genetically diverse group of disorders characterised by difficulties with walking, balance, coordination and speech. They encompass a diverse spectrum of conditions that present with a variety of symptoms. The spinocerebellar ataxias 1,2,3,6,7, 17, and Friedrech’s ataxia, caused by a trinucleotide repeat expansion, are amongst the most frequently encountered. However, a variety of genetic mutations have been described.

In recent years, unprecedented advancements in Next-Generation Sequencing have resulted in an exponential increase in the identification of novel variants implicated in ataxia. Unfortunately, despite this progress, a significant proportion of patients continue to lack a molecular diagnosis. This is particularly relevant to late onset ataxias, those with incomplete penetrance and clinical variability.  In these cases, the absence of a genetic diagnosis presents a considerable impediment to precise genetic counseling and prognostic predictions.  Crucially, our research aims to detect novel genetic mutations that cause ataxia, and to isolate the biochemical pathways involved in these diseases, to find potential therapeutic targets in the future.

If you have Ataxia and wish to participate in research, please contact us.

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