The team at the Sheffield Ataxia Centre has recently published a paper in the Journal of Neurology. To read the paper please click here.
The paper details the Sheffield Ataxia Centre experience and gives some support to the potential use of 3,4-diaminopyridine as a therapy to alleviate symptoms in Spinocerebellar ataxia type 27B (SCA27B).
Spinocerebellar ataxia type 27B (SCA27B) is a genetic disorder caused by a change (mutation) in the fibroblast growth factor 14 gene (FGF14). It is inherited in an autosomal dominant manner meaning that children of an affected individual have a 50% chance of inheriting the same mutation; however, those who inherit the mutation may not always develop symptoms. SCA27B has only relatively recently been identified as a frequent but underdiagnosed cause of late-onset, and seemingly non-inherited or “sporadic”, cerebellar ataxia.
This research, led by Professor Hadjivassiliou at the Sheffield Ataxia Centre, studied the symptoms, MRI brain imaging findings and treatment response to 3,4-diaminopyridine in a group of patients with the condition.
The study found that the average age of symptom onset in this group of 50 patients was 61.8 years, and 28% of people reported symptoms occurring episodically. An abnormal eye movement called downbeat nystagmus was seen in 50% of patients; 28% experienced symptoms where it seems as if stationary surroundings seem to jump around (called oscillopsia) because of this; and 22% of patients experienced tremor which tended to affect the arms but occasionally the legs and head.
23 of the patients were treated with 3,4-diaminopyridine and results showed that 70% of this group reported improvement in their symptoms (using a simple ‘yes’ or ‘no’ response as to whether they felt any benefit) and there was evidence of stable or improved findings using a brain imaging technique called Magnetic Resonance Spectroscopy (MRS) in 21 of these patients. Also of interest is that 3,4-diaminopyridine is related to 4-aminopyridine which has also been studied in a small number of people with SCA27B already and will be further evaluated in a clinical trial by the biopharmaceutical company Solaxa.
Overall, this research contributes to our understanding of SCA27B and whilst encouraging, further research is needed. It is important to note that 3,4-diaminopyridine is not licensed for use in SCA27B, and this study was not a placebo-controlled trial, which is the gold standard for assessing the efficacy and safety of medicines. Availability of 3,4-diaminopyridine varies across the UK, and it is possible that your neurologist may not be able to prescribe this for you. When prescribed, it always requires specialist input. If you are interested in exploring this more, please contact your neurologist for further guidance on whether they consider that this may be an appropriate option for you.
If you have recently been diagnosed with SCA27B, please let us know so that we can add you to our registry to support future clinical trials by emailing: sparr-reid@ataxia.org.uk. For more information on SCA27B please see our information leaflet here.
