A team of researchers and clinicians from Lyon report two unrelated families from the Ain region with late-onset distal myopathy with no signs likely to suggest associated motor neurone damage:
- A total of eight adult patients were studied, the disease being transmitted in an autosomal dominant fashion, with variable penetrance,
- The same missense variant of the TARDBP gene was identified in all patients,
- Functional studies carried out in collaboration with a German laboratory have confirmed its pathogenic nature and its involvement in the accumulation of the TDP-43 protein inside cells.
This is the first time that this gene has been implicated in a pure form of adult distal myopathy, without associated ALS and/or fronto-temporal dementia.
