Key result
Intrajejunal levodopa-carbidopa reduces severe motor fluctuations safely in 22q11.2DS-associated early Parkinson's.
Why the study?
Management of early-onset Parkinson's disease in 22q11.2 deletion syndrome is challenging because psychiatric and cognitive comorbidities often limit advanced therapies such as deep brain stimulation.
Does continuous intrajejunal levodopa-carbidopa infusion improve motor fluctuations in patients with 22q11.2 deletion syndrome-associated early-onset Parkinson's disease?
Case Report (n=2)
No
Does continuous intrajejunal levodopa-carbidopa infusion improve motor fluctuations in patients with 22q11.2 deletion syndrome-associated early-onset Parkinson's disease?
Continuous intrajejunal levodopa-carbidopa infusion is a feasible and effective advanced therapy for managing severe motor fluctuations in patients with 22q11.2 deletion syndrome-associated early-onset Parkinson's disease and psychiatric comorbidities.
LCIG may improve motor fluctuations in 22q11.2DS-PD with psychiatric comorbidities; hypothesis-generating and requires prospective validation.
Background 22q11.2 deletion syndrome (22q11DS) is a multisystem genetic disorder associated with a significantly increased risk of early‐onset Parkinson's disease (EOPD). Management is challenging because psychiatric and cognitive comorbidities often limit advanced therapies such as deep brain stimulation (DBS). Cases We report 2 patients with 22q11DS who developed EOPD at about age 30 with prominent psychiatric manifestations. In both cases, diagnosis of 22q11DS was delayed until genetic testing was performed for atypical parkinsonism associated with intellectual disability and dysmorphic features. Severe motor fluctuations and dyskinesia developed early. Because of psychiatric vulnerability, DBS and dopamine agonists were considered unsuitable. Continuous intrajejunal levodopa–carbidopa infusion (LCIG [levodopa–carbidopa intestinal gel]) was initiated, which led to sustained improvement in motor fluctuations and functional status, although individualized dose adjustments were required. Conclusions LCIG may represent a valuable therapeutic option in selected patients with 22q11DS‐associated Parkinson's disease when psychiatric comorbidity limits other advanced therapies.
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Andrés et al. (2026) conducted a case report in 22q11.2 deletion syndrome-associated early-onset Parkinson's disease (n=2). Continuous intrajejunal levodopa-carbidopa infusion (LCIG) vs. Pre-treatment baseline was evaluated on Motor fluctuations and psychiatric stability. Continuous intrajejunal levodopa-carbidopa infusion led to sustained improvement in severe motor fluctuations without destabilizing psychiatric status in two patients with 22q11.2 deletion syndrome-associated early-onset Parkinson's disease.
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