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A new case of late onset Lafora’s disease without generalised seizures
  1. A FERNANDEZ-BARREIRO,
  2. J SICILIA GUILLEN,
  3. P CASTEJON VERA,
  4. J MARTIN FERNANDEZ,
  5. J B ESCRIBANO SORIANO,
  6. M C ANTUNEZ,
  7. R VILLAVERDE
  1. Servicio de Neurologia
  2. Servicio de Anatomia Patologica , Neuropatologia, Hospital Universitario Virgen de La Arrixaca, El Palmar Murcia, Spain
  1. Dr A Fernandez-Barreiro, Servicio de Neurologia Hospital Universitario Virgen de La Arrixaca, El Palmar, Murcia, Spain.
  1. J SOLA PEREZ
  1. Servicio de Neurologia
  2. Servicio de Anatomia Patologica , Neuropatologia, Hospital Universitario Virgen de La Arrixaca, El Palmar Murcia, Spain
  1. Dr A Fernandez-Barreiro, Servicio de Neurologia Hospital Universitario Virgen de La Arrixaca, El Palmar, Murcia, Spain.

https://doi.org/10.1136/jnnp.66.1.114a

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    Lafora’s disease is clinically characterised by the triad of epilepsy, progressive dementia, and myoclonus as well as Lafora bodies in the brain and other tissues.

    The onset of this autosomic recessive disease is usually between the ages of 6 and 20 with a duration of 2–10 years. It can begin with generalised tonic-clonic seizures or focal seizures which are especially visual. Slight erratic myoclonus appears progressively with twitching movements of the fingers and facial muscles. The EEG records show a slowing of background activity and bursts of spike and wave which are generalised, multifocal, and often sensitive to intermittent luminous stimulation. The disease provokes progressive deterioration leading to cortical and subcortical dementia and eventual death.

    Light microscopy of biopsy of the frontal cortex. There are characteristic intraneuronal inclusion bodies of different morphological forms with Nissl granules. Periodic acid Schiff; originally×1000.

    The cases in the literature to date, including the families which we studied, all possessed these clinical criteria.1 2

    The aim of this letter is to highlight one of our latest cases of late onset Lafora’s disease, which occurred when the patient was 25 years old and who, although not showing evidence of either tonic-clonic or focal seizures, did, however, have dementia and erratic myoclonus over a long period. Blood taken from this patient served in the identification of the Lafora chromosome map.3

    The patient was a 40 year old woman who, at …

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