Early Parkinsonism in a Senegalese girl with Lafora disease

Francesca Ragona, Laura Canafoglia, Barbara Castellotti, Roberta Solazzi, Sara Gabbiadini, Elena Freri, Vidmer Scaioli, Jacopo Cosimo DiFrancesco, Cinzia Gellera, Tiziana Granata

Research output: Contribution to journalArticlepeer-review


We report the atypical presentation of Lafora disease in a Senegalese girl carrying the homozygous variant, c.560A>C, in the NHLRC1 gene. At 13 years, the patient developed myoclonic and visual seizures, progressive psychomotor slowing, and cognitive decline. At 14 years, a neurological examination showed severe hypomimia, bradykinesia, rigidity and low-amplitude myoclonic jerks. Flash-visual and somatosensory evoked potentials showed an increased amplitude of the cortical components, while an electroretinogram showed attenuated responses. An EEG showed diffuse polyspikes associated with positive-negative jerks as well as posterior slow waves and irregular spikes. The electroclinical picture suggested the diagnosis of Lafora disease regarding the association of visual seizures, cognitive deterioration, and action myoclonus, together with the EEG and evoked potential findings. Two uncommon findings were the prominence of extrapyramidal signs in the early stage of disease (which are rarely reported) and attenuation of electroretinal responses. We consider that Lafora disease should be included in the diagnostic work-up for juvenile Parkinsonism, when associated with epilepsy.

Original languageEnglish
Pages (from-to)233-236
Number of pages4
JournalEpileptic Disorders
Issue number2
Publication statusPublished - Apr 1 2020


  • Lafora disease
  • NHLRC1 gene
  • Parkinsonism
  • progressive myoclonus epilepsy

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology


Dive into the research topics of 'Early Parkinsonism in a Senegalese girl with Lafora disease'. Together they form a unique fingerprint.

Cite this