title: Non-motor symptoms and cardiac innervation in SYNJ1-related parkinsonism.
abstract: BACKGROUND
  PARK20 is a rare autosomal recessive parkinsonism related to the SYNJ1 gene and characterized by early-onset of disease and atypical signs such as supranuclear vertical gaze palsy, dementia, dystonia, and generalized tonic-clonic seizures.
  
  
  OBJECTIVE
  Non-motor features and cardiac sympathetic innervation were assessed in two siblings affected by parkinsonism who harboured the homozygous Arg258Gln mutation in the SYNJ1 gene.
  
  
  METHODS
  The Non-Motor Symptoms, the SCOPA-AUT, the Mayo Sleep Questionnaires and polysomnography were used to investigate non-motor signs (NMS), autonomic dysfunction and REM Behavioural Disorder (RBD). Cognitive functions were examined by an extensive battery of neuropsychological tests. In addition, motor and sensory nerve conduction studies and evoked laser potentials were performed. Cardiac sympathetic innervation was assessed in the two patients by (123)I-metaiodobenzylguanidine (MIBG) scintigraphy, computing early and late heart-to-mediastinum (H/M) ratios and myocardial washout rates (WR).
  
  
  RESULTS
  Among the non-motor symptoms and autonomic signs, case 1 had cold intolerance, drooling and dysphagia, while case 2 had pain and urinary dysfunction. Both cases showed mood and behavioural disorders. RBD were not found, whereas the neuropsychological assessment revealed a progressive cognitive impairment. Neurophysiological studies revealed no abnormalities. Indexes of cardiac sympathetic innervation in the two patients did not differ from those of control subjects.
  
  
  CONCLUSIONS
  Our findings expand the phenotypic profile of SYNJ1-related parkinsonism. Preserved cardiac sympathetic function and absence of RBD suggest that PARK20 should be explained by a pathogenic mechanism different from Lewy Body pathology, or that the latter is not as widespread as idiopathic Parkinson's disease.
authors.affiliation: Department of Neurosciences and Reproductive and Odontostomatological Sciences, Federico II University, Naples, Italy. Electronic address: anna.derosa1@unina.it.
authors.forename: A
authors.initials: A
authors.lastname: De Rosa
authors.affiliation: Institute of Biostructure and Bioimaging, National Council of Research, Naples, Italy.
authors.forename: T
authors.initials: T
authors.lastname: Pellegrino
authors.affiliation: Institute of Biostructure and Bioimaging, National Council of Research, Naples, Italy.
authors.forename: S
authors.initials: S
authors.lastname: Pappatà
authors.affiliation: Department of Neurosciences and Reproductive and Odontostomatological Sciences, Federico II University, Naples, Italy.
authors.forename: M
authors.initials: M
authors.lastname: Lieto
authors.affiliation: Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands.
authors.forename: V
authors.initials: V
authors.lastname: Bonifati
authors.affiliation: Department of Neurophysiology, San Gennaro Hospital, Naples, Italy.
authors.forename: V
authors.initials: V
authors.lastname: Palma
authors.affiliation: Department of Neurosciences and Reproductive and Odontostomatological Sciences, Federico II University, Naples, Italy.
authors.forename: A
authors.initials: A
authors.lastname: Topa
authors.affiliation: Department of Neurosciences and Reproductive and Odontostomatological Sciences, Federico II University, Naples, Italy.
authors.forename: L
authors.initials: L
authors.lastname: Santoro
authors.affiliation: Department of Neurosciences and Reproductive and Odontostomatological Sciences, Federico II University, Naples, Italy.
authors.forename: L
authors.initials: L
authors.lastname: Bilo
authors.affiliation: Department of Advanced Biomedical Sciences, Federico II University, Naples, Italy.
authors.forename: A
authors.initials: A
authors.lastname: Cuocolo
authors.affiliation: Department of Neurosciences and Reproductive and Odontostomatological Sciences, Federico II University, Naples, Italy; Institute of Biostructure and Bioimaging, National Council of Research, Naples, Italy.
authors.forename: G
authors.initials: G
authors.lastname: De Michele
mesh_terms: D000328:Adult; D006321:Heart / Q000000981:diagnostic imaging / Q000294:innervation*; D006801:Humans; D008297:Male; D009154:Mutation; D055414:Myocardial Perfusion Imaging; D010300:Parkinson Disease / Q000150:complications* / Q000235:genetics* / Q000503:physiopathology; D010641:Phenotype; D010744:Phosphoric Monoester Hydrolases / Q000235:genetics*; D035781:Siblings; D013564:Sympathetic Nervous System / Q000503:physiopathology*; D000099182:Phosphoinositide 5-Phosphatases
chemical_list: D010744:Phosphoric Monoester Hydrolases; D000099182:Phosphoinositide 5-Phosphatases
keywords: (123)I-metaiodobenzylguanidine myocardial scintigraphy; Non-motor signs; PARK20; SYNJ1 gene