title: Cerebellar and pyramidal dysfunctions, palpebral ptosis and weakness as presenting symptoms of PARK-2.
authors.forename: Marianna
authors.initials: M
authors.lastname: Amboni
authors.forename: Maria Teresa
authors.initials: MT
authors.lastname: Pellecchia
authors.forename: Autilia
authors.initials: A
authors.lastname: Cozzolino
authors.forename: Marina
authors.initials: M
authors.lastname: Picillo
authors.forename: Carmine
authors.initials: C
authors.lastname: Vitale
authors.forename: Paolo
authors.initials: P
authors.lastname: Barone
authors.forename: Andrea
authors.initials: A
authors.lastname: Varrone
authors.forename: Barbara
authors.initials: B
authors.lastname: Garavaglia
authors.forename: Simona
authors.initials: S
authors.lastname: Gambelli
authors.forename: Antonio
authors.initials: A
authors.lastname: Federico
mesh_terms: D000328:Adult; D001763:Blepharoptosis / Q000209:etiology*; D002250:Carbon Radioisotopes; D002531:Cerebellum / Q000503:physiopathology; D002675:Child, Preschool; D003342:Corpus Striatum / Q000000981:diagnostic imaging; D006579:Heterozygote; D006801:Humans; D018476:Hypokinesia / Q000209:etiology; D007457:Iodine Radioisotopes; D008297:Male; D008931:Mitochondria, Muscle / Q000378:metabolism / Q000648:ultrastructure; D018908:Muscle Weakness / Q000209:etiology*; D020125:Mutation, Missense; D020734:Parkinsonian Disorders / Q000150:complications / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000235:genetics; D011877:Radionuclide Imaging; D017384:Sequence Deletion; D013132:Spinocerebellar Degenerations / Q000209:etiology*; D014326:Tropanes; D044767:Ubiquitin-Protein Ligases / Q000172:deficiency / Q000235:genetics*
chemical_list: D002250:Carbon Radioisotopes; D007457:Iodine Radioisotopes; D014326:Tropanes; C087552:2-carbomethoxy-8-(3-fluoropropyl)-3-(4-iodophenyl)tropane; D044767:Ubiquitin-Protein Ligases; C111567:parkin protein