title: Early-onset Parkinson's Disease Associated with Chromosome 22q11.2 Deletion Syndrome.
abstract: We herein report the case of a 43-year-old man with a 4-year history of resting tremor and akinesia. His resting tremor and rigidity were more prominent on the left side. He also presented retropulsion. His symptoms responded to the administration of levodopa. The patient also had a cleft lip and palate, cavum vergae, and hypoparathyroidism. A chromosome analysis disclosed a hemizygous deletion in 22q11.2, and he was diagnosed with early-onset Parkinson's disease associated with 22q11.2 deletion syndrome. However, the patient lacked autonomic nerve dysfunction, and his cardiac uptake of (123)I-metaiodobenzylguanidine was normal, indicating an underlying pathological mechanism that differed to that of sporadic Parkinson's disease.
authors.affiliation: Department of Neurology, Kansai Medical University, Japan.
authors.forename: Mitsuaki
authors.initials: M
authors.lastname: Oki
authors.forename: Shin-ichiro
authors.initials: S
authors.lastname: Hori
authors.forename: Shinya
authors.initials: S
authors.lastname: Asayama
authors.forename: Reika
authors.initials: R
authors.lastname: Wate
authors.forename: Satoshi
authors.initials: S
authors.lastname: Kaneko
authors.forename: Hirofumi
authors.initials: H
authors.lastname: Kusaka
mesh_terms: D058165:22q11 Deletion Syndrome / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology; D000328:Adult; D017668:Age of Onset; D006801:Humans; D007011:Hypoparathyroidism / Q000235:genetics; D008279:Magnetic Resonance Imaging; D008297:Male; D009127:Muscle Rigidity / Q000209:etiology / Q000235:genetics / Q000503:physiopathology*; D010300:Parkinson Disease / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology