Non-motor symptoms and cardiac innervation in SYNJ1-related parkinsonism
| Autor: | Alberto Cuocolo, A. De Rosa, V. Palma, S. Pappatà, Antonietta Topa, Leonilda Bilo, Vincenzo Bonifati, Maria Lieto, G. De Michele, Lucio Santoro, Teresa Pellegrino |
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| Přispěvatelé: | Clinical Genetics, DE ROSA, Anna, Pellegrino, Teresa, Pappata', Sabina, Lieto, Maria, Bonifati, V., Palma, Vanda, Topa, Antonietta, Santoro, Lucio, Bilo, Leonilda, Cuocolo, Alberto, DE MICHELE, Giuseppe |
| Rok vydání: | 2016 |
| Předmět: |
0301 basic medicine
SYNJ1 gene Adult Male Pathology medicine.medical_specialty Sympathetic Nervous System Polysomnography Drooling 03 medical and health sciences 0302 clinical medicine Internal medicine medicine Dementia Humans Neuropsychological assessment Dystonia Palsy medicine.diagnostic_test business.industry PARK20 Parkinsonism Siblings Myocardial Perfusion Imaging Heart Parkinson Disease medicine.disease Dysphagia Phosphoric Monoester Hydrolases 123I-metaiodobenzylguanidine myocardial scintigraphy 030104 developmental biology Phenotype Neurology Mutation Cardiology Neurology (clinical) medicine.symptom Geriatrics and Gerontology business (123)I-metaiodobenzylguanidine myocardial scintigraphy Non-motor signs Non-motor sign 030217 neurology & neurosurgery |
| Zdroj: | Parkinsonism & related disorders 23 (2016): 102–5. doi:10.1016/j.parkreldis.2015.12.006 info:cnr-pdr/source/autori:De Rosa, A; Pellegrino, T; Pappata, S; Lieto, M; Bonifati, V; Palma, V; Topa, A; Santoro, L; Bilo, L; Cuocolo, A; De Michele, G/titolo:Non-motor symptoms and cardiac innervation in SYNJ1-related parkinsonism./doi:10.1016%2Fj.parkreldis.2015.12.006/rivista:Parkinsonism & related disorders/anno:2016/pagina_da:102/pagina_a:5/intervallo_pagine:102–5/volume:23 Parkinsonism & Related Disorders, 23, 102-105. Elsevier |
| ISSN: | 1353-8020 |
| DOI: | 10.1016/j.parkreldis.2015.12.006 |
| Popis: | Introduction 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. |
| Databáze: | OpenAIRE |
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