Objective: The aim of this study is to characterize child population with genetic early-onset parkinsonism.

Background: Early forms of Parkinsonism have many distinctive features as compared to Parkinsonism in adults. When parkinsonism presents in infancy or adolescence the clinical syndrome has commonly a genetic basis. A detailed knowledge of genetic disorders and their clinical expression (neurological and extraneurological manifestation, imaging features and other studies) is required for rational planning of genetic testing.

Method: Analysis of clinical records and revision of videos of patients with parkinsonism from infancy to adolescence (birth to 21 years old)

Results: We studied 31 patients with 17 different genetic causes of hypokinetic rigid syndrome, including mutation of genes: DJ1 (PARK7), LRRK2 (PARK8), ATP13A2 (PARK9), HTT, ATP7B, NPC1, PANK2, PLA2G6, CLN2, SLC2A1, SL6A3, ATXN3, KIAA1840 (SPG11), FMR, MECP2, PAH and TCF4. The median age of onset of symptoms was 10 years old, 55.5% were female and 44.5% male. The presence of rest tremor was reported in 9/31 patients. The frequency of other clinical features were dystonia 66%, abnormal cognition 63%, pyramidal signs 47%, neuropsychiatric disorders 33.3%, epilepsy 26.6%, ataxia 20%, abnormal eye movements 16.6%, myoclonus 10%, chorea 0.3%. 63% of the patients reported abnormal brain imaging.

Conclusion: In our series rest tremor was not a frequent symptom. The most common associated symptoms were dystonia and abnormal cognition. Hypokinetic rigid syndrome from infancy to adolescence can be a manifestation of different pathologies, most of the cases were autosomal recessive disorders.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/genetic-hypokinetic-rigid-syndrome-clinical-phenotypes-from-infancy-to-adolescence-in-a-series-of-chilean-patients/