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  • CA and RP contributed equally to this paper and are joint first authors.

  • Contributors CA and RP wrote the manuscript. SC performed and interpreted the neuroimaging. ER coordinated the genetic studies, and interpreted the findings. RdS is the patient's consultant neurologist and was involved in all aspects of this case.

  • Funding None.

  • Competing interests None.

  • Patient consent Obtained.

  • Provenance and peer review Not commissioned; externally peer reviewed. This paper was reviewed by Finbar O'Callaghan, Bristol, UK.

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