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Progressive myoclonus ataxia: Time for a new definition?
Sterre van der Veen1, Rodi Zutt1,2, Jan Willem J Elting1
1University of Groningen, University Medical Center Groningen, Department of Neurology, Groningen, The Netherlands.
Summary
A refined definition clarifies progressive myoclonus ataxia (PMA), distinguishing it from isolated cortical myoclonus. This improved diagnostic approach aids clinical practice and future genetic research into these neurological syndromes.
Area of Science:
- Neurology
- Genetics
- Clinical Neuroscience
Background:
- The clinical definition of progressive myoclonus ataxia (PMA) is imprecise, hindering its recognition and differentiation from other neurological disorders.
- This ambiguity complicates accurate diagnosis and targeted research efforts.
Purpose of the Study:
- To apply a refined definition for progressive myoclonus ataxia (PMA).
- To delineate the clinical characteristics of patients diagnosed with PMA versus isolated cortical myoclonus.
Main Methods:
- Retrospective and prospective analysis of patients between 1994 and 2014 at a tertiary referral center.
- Inclusion criteria focused on the presence of myoclonus and ataxia for PMA, and isolated cortical myoclonus for the comparison group.
- Systematic scoring of clinical and electrophysiological data was performed.
Main Results:
- 14 PMA patients and 8 isolated cortical myoclonus patients were identified, with distinct median ages.
- In PMA, ataxia onset preceded myoclonus and epilepsy in most cases, with a progressive course observed in 93%.
- A genetic etiology was found in 64% of PMA patients, including novel genes, while none were identified in the isolated cortical myoclonus group.
Conclusions:
- A refined definition successfully created a more homogenous group of progressive myoclonus ataxia (PMA) patients.
- Isolated cortical myoclonus presents differently and does not appear to progress to PMA.
- The refined PMA definition is crucial for clinical practice and advancing genetic research.
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