Clinical, pathological and genetic characteristics of Perry disease—new cases and literature review

Background and purpose Perry disease (or Perry syndrome) is an autosomal dominant neurodegenerative disorder characterized by parkinsonism, neuropsychiatric symptoms, central hypoventilation, weight loss and distinct TDP‐43 pathology. It is caused by mutations of the DCTN1 gene encoding an essential...

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Veröffentlicht in:	European journal of neurology 2021-12, Vol.28 (12), p.4010-4021
Hauptverfasser:	Dulski, Jarosław, Cerquera‐Cleves, Catalina, Milanowski, Lukasz, Kidd, Alexa, Sitek, Emilia J., Strongosky, Audrey, Vanegas Monroy, Ana María, Dickson, Dennis W., Ross, Owen A., Pentela‐Nowicka, Jolanta, Sławek, Jarosław, Wszolek, Zbigniew K.
Format:	Artikel
Sprache:	eng
Schlagworte:	Antidepressants Autonomic nervous system Autopsies Autopsy Axonal transport Basal ganglia Brain diseases Central nervous system diseases DCTN1 gene DCTN1 gene Degeneration Depression - complications Diaphragm Disease dynactin Dynactin Complex - genetics Etiology Gene therapy Genetic screening Hereditary diseases Humans Hypoventilation Hypoventilation - complications Hypoventilation - genetics Hypoventilation - therapy Levodopa Literature reviews Mechanical ventilation Medical treatment Mental depression Mental disorders Movement disorders Mutation Neurodegeneration Neurodegenerative diseases neurodegenerative disorder Pacemakers Parkinsonian Disorders - diagnosis parkinsonism Pathology Patients Polygenic inheritance Signs and symptoms TDP‐43 Weight loss
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