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Adult-onset Kufs disease
  1. Albert Kelly1,
  2. John Dunne1,2,
  3. Carolyn Orr3,
  4. Nicholas Lawn1,4
  1. 1Neurology, Sir Charles Gairdner Hospital, Nedlands, Western Australia, Australia
  2. 2Internal Medicine, The University of Western Australia Faculty of Health and Medical Sciences, Perth, Western Australia, Australia
  3. 3Neurology, Royal Perth Hospital, Perth, Western Australia, Australia
  4. 4Neurology, Western Australian Adult Epilepsy Service, Perth, Western Australia, Australia
  1. Correspondence to Dr Albert Kelly, Neurology, Sir Charles Gairdner Hospital, Nedlands, Western Australia, WA 6008, Australia; albert.kelly{at}health.wa.gov.au

Abstract

A young man from Pakistan had his first-ever tonic-clonic seizure while playing cricket. Since age 12 years, he had reported involuntary jerks and tremulousness, sometimes with falls, particularly with bright lights. Family history included a brother who developed seizures with myoclonus in his mid-20s and parental consanguinity. Developmental history was normal. Examination identified cognitive impairment with action myoclonus. His clinical presentation raised suspicion of a progressive myoclonus epilepsy. MR scan of the brain showed white matter changes suggesting leucodystrophy with cortical atrophy. Electroencephalogram showed generalised epileptiform abnormalities with photoparoxysmal responses, including at low frequencies (1 Hz). Cortical hyperexcitability was confirmed with giant median somatosensory evoked potentials and long loop reflexes at rest. Multichannel electromyography showed action myoclonus with variable synchronous and asynchronous agonist and antagonist muscle activation with short-burst duration of 25–75 ms, and jerk-locked back-averaging showed premyoclonic potentials consistent with cortical myoclonus. Genetic sequencing identified a homozygous missense variant in the CLN6 gene (c.768C>G p.(Asp256Glu), confirming Kufs disease type A.

  • EPILEPSY
  • NEUROGENETICS
  • EEG

Data availability statement

Data sharing not applicable as no datasets generated and/or analysed for this study.

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Data availability statement

Data sharing not applicable as no datasets generated and/or analysed for this study.

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Footnotes

  • Contributors All writers contributed to case, production and review. ATK—writing, compiling and review. NL—clinical aspects, discussion and review. JD—neurophysiology, discussion and review. CO—clinical aspects.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests None declared.

  • Provenance and peer review Not commissioned; externally peer reviewed by William Stern, London, UK, and Andrew Mitchell, Cambridge, UK.

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