Myoclonic tremor status as a presenting symptom of adenylosuccinate lyase deficiency

Michal M. Andelman-Gur, Hirotomo Saitsu, Naomichi Matsumoto, Ronen Spiegel, Keren Yosovich, Dorit Lev, Tally Lerman-Sagie, Lubov Blumkin*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review


Adenylosuccinate lyase deficiency is a rare autosomal recessive disorder of purine metabolism. The disorder manifests with developmental delay, postnatal microcephaly, hypotonia, involuntary movements, epileptic seizures, ataxia and autistic features. Paroxysmal non-epileptic motor events are not a typical presentation of the disease. We describe an 8-year-old boy who presented with an infantile onset of prolonged episodes of multifocal sustained myoclonic tremor lasting from minutes to days on a background of global developmental delay and gait ataxia. Ictal EEG during these episodes was normal. Ictal surface EMG of the involved upper limb showed a muscular activation pattern consistent with cortical myoclonus. Brain MRI showed mild cerebral atrophy. Whole exome sequencing revealed a novel homozygous variant in the ADSL gene: c.1027G > A; p. Glu343Lys, inherited from each heterozygous parent. There was a marked elevation of urine succinyladenosine, confirming the diagnosis of adenylosuccinate lyase deficiency. In conclusion, myoclonic tremor status expands the spectrum of movement disorders seen in adenylosuccinate lyase deficiency.

Original languageEnglish
Article number104061
JournalEuropean Journal of Medical Genetics
Issue number12
StatePublished - Dec 2020


FundersFunder number
Japan Agency for Medical Research and DevelopmentJP19ek0109348, JP19ek0109280, JP19kk020515, JP19dm0107090, JP19ek0109301
Japan Society for the Promotion of ScienceJP16H05160, JP17H01539


    • Adenylosuccinate lyase deficiency
    • Myoclonic tremor
    • Paroxysmal movement disorder


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