Article
Association between early-onset Parkinson disease and 22q11.2 deletion syndrome: identification of a novel genetic form of Parkinson disease and its clinical implications.
JAMA neurology - 1 Nov 2013
Butcher Nancy J, Kiehl Tim-Rasmus, Hazrati Lili-Naz, Chow Eva W C, Rogaeva Ekaterina, Lang Anthony E, Bassett Anne S
Abstract excerpt
IMPORTANCE: Clinical case reports of parkinsonism co-occurring with hemizygous 22q11.2 deletions and the associated multisystem syndrome, 22q11.2 deletion syndrome (22q11.2DS), suggest that 22q11.2 deletions may lead to increased risk of early-onset Parkinson disease (PD). The frequency of PD and its neuropathological presentation remain unknown in this common genetic condition. OBJECTIVE: To evaluate a possible...
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