Clinical StudiesLevodopa responsive Parkinsonism in adults with Angelman Syndrome☆
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Cited by (33)
Myoclonus in Angelman syndrome
2018, Epilepsy and BehaviorCitation Excerpt :The natural history of aberrant movement is largely unknown, but the tremor in AS has been reported to increase in severity with age [9]. In addition to the typical tremor and ataxia, Harbord described two adults with AS who developed Parkinsonian symptoms, including cogwheel rigidity and bradykinesia; these symptoms subsequently responded to dopaminergic treatment [10]. The primary seizure semiologies in AS include atypical absence, generalized tonic–clonic, atonic, and myoclonic seizures [11].
Paroxysmal tonic upward gaze complicating Angelman syndrome
2015, Pediatric NeurologyE6-AP association promotes SOD1 aggresomes degradation and suppresses toxicity
2013, Neurobiology of AgingCitation Excerpt :E6-AP promotes ubiquitination and degradation of expanded polyglutamine proteins and suppressed polyglutamine protein aggregation (Mishra et al., 2008). The patients with Angelman syndrome also develop Parkinson's-like symptoms in later age (Harbord, 2001). These results all elicit a clue that a loss of E6-AP function might elevate intracellular concentration of certain substrates or damaged proteins (Mulherkar et al., 2009).
Ca<sup>2+</sup>/calmodulin-dependent protein kinase IIα (αCaMKII) controls the activity of the dopamine transporter: Implications for angelman syndrome
2012, Journal of Biological ChemistryCitation Excerpt :Consistent with a role of DAT in Angelman syndrome, Ube3Ap+/m− mice become hypodopaminergic and develop motor deficits that are equivalent to human Parkinson disease (39). In fact, frank (levodopa responsive) Parkinson disease has also been observed in young adults with Angelman syndrome (40). Hence, our data on DAT-mediated efflux in striata prepared from Angelman syndrome mice establishes an association between defective Ube3A and DAT and indicates that a defective αCaMKII is most likely the link between these two proteins.
Drosophila modeling of heritable neurodevelopmental disorders
2011, Current Opinion in NeurobiologyCitation Excerpt :This study therefore suggests that altered dopaminergic function may contribute to AS etiology, and may shed light on symptoms associated with UBE3A copy number variants linked to ASD [11,12]. Clinically, two AS patients presenting with Parkinsonism responded positively to levodopa/carbidopa treatment [13], suggesting dopaminergic function involvement in AS. Further evidence for dopaminergic involvement in AS has been uncovered in a murine maternal loss of Ube3a model, in which loss of tyrosine hydroxylase-reactive neurons in the substantia nigra was linked to motor deficits [14].
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Correspondence to: Dr M. Harbord, Department of Paediatrics and Child Health, Flinders Medical Centre, Bedford Park, SA 5042, Australia. Tel.: +61 8 8204 4459; Fax: +61 8 8204 3945.