Ataxia

What is 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 counselling 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.

Our Latest Publications on Ataxia

Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency

Scala et al, 2022

https://pubmed.ncbi.nlm.nih.gov/34989426/

 

WARS2 mutations cause dopa-responsive early-onset parkinsonism and progressive myoclonus ataxia

Skorvanek et al, 2022

https://pubmed.ncbi.nlm.nih.gov/34890876/

 

Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Paediatric Stress-Induced Epileptic Ataxia Syndrome

Ghosh et al, 2021

https://pubmed.ncbi.nlm.nih.gov/34861176/

 

Cerebellar ataxia, neuropathy, vestibular areflexia syndrome: Genetic and clinical insights

Sullivan et al, 2021

https://pubmed.ncbi.nlm.nih.gov/34227574/

 

Defective phosphatidylethanolamine biosynthesis leads to a broad ataxia-spasticity spectrum

Kaiyrzhanov et al, 2021

https://pubmed.ncbi.nlm.nih.gov/33454747/