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Título

PARKINSON’S DISEASE ASSOCIATED WITH PARK7 MUTATION: CASE REPORT OF CLINICAL ONSET AT 20-YEARS-OLD

RESUMO

Case Presentation: Female patient, at 20 years, presented with rest tremor in right hand, evolving during 5 years with continuous tremor, worse in right side, associated with walking difficult. Approximately 2 years ago, the patient refers the onset of vocal disturb. The patient was admitted in our service in 2022 presenting spastic and hypophonic speech, severe bradykinesia and postural instability associated with high-frequency, moderate amplitude tremor, with right hand intention tremor and bilateral kinetic tremors of the hands. The patient was submitted to neuroimaging investigation of brain and cervical spine, as well as metabolic screening, with no pathological findings. The patient was submitted to Levodopa overload test, showing objective improvement in symptoms, and subsequentely to genetic investigation, that showed PARK7 mutation. Initial treatment with levodopa at 400mg daily developed orofacial dyskinesias, so long-acting Pramipexol was started, with significant improvement of bradykinesia, vocalization and postural instability. Discussion: Although it is known that the majority of PD is a combination of complex genetic susceptibility and environmental factors, around 5–10% of PD may be attributed to monogenic forms. Mutations in the PARK7 gene are a rare cause of autosomal recessive PD, with at least 20 mutations in its gene identified. The majority (83%) of PARK7-linked PD cases have a clinical onset between the second and third decades of life, whereas 4% have late onset and 13% have juvenile onset, and the youngest youngest case reported was in a 5-year-old patient. Clinically, PARK7 mutations has been described as a levodopa-responsive parkinsonism with early or even juvenile onset and slow progression. In contrast to others neurodegenerative diseases that manifests itself at such a young age, autosomal recessive PD caused by PRKN, PINK1, and PARK7 mutations typically combines young age at onset with very slow progression, as illustrated by our current case. Final comments: Although gene mutations in PD are rare, atypical cases in young patients with adequate diagnosis implies in significant recovery in quality of life. Furthermore, studies of the genetic and neuropathological features of rare genetic forms of it has been described PARK7 as potentially key role in new therapeutic targets and interventions.

Palavras Chave

PARK7 MUTATION; PARKINSON’S DISEASE;