- •Chromosome 5p deletion (5p-) syndrome may present with neurodegenerative features.
- •5p- pathology is variable possibly with olfactory aplasia and/or polymicrogyria.
- •5p- pathology includes cerebral neuronal inclusions like cortical Lewy bodies.
- •5p- pathology may show α-Synucleinopathy in the limbic and paralimbic cortex.
- •α-Synucleinopathy may be involved in the pathophysiology of 5p- syndrome.
Purchase one-time access:Academic & Personal: 24 hour online accessCorporate R&D Professionals: 24 hour online access
One-time access price info
- For academic or personal research use, select 'Academic and Personal'
- For corporate R&D use, select 'Corporate R&D Professionals'
- 5p deletions: current knowledge and future directions.Am. J. Med. Genet. C: Semin. Med. Genet. 2015; 169: 224-238https://doi.org/10.1002/ajmg.c.31444
- Brain stem hypoplasia associated with Cri-du-chat syndrome.Korean J. Radiol. 2013; 14: 960-962https://doi.org/10.3348/kjr.2013.14.6.960
- Inherited 5p deletion syndrome due to paternal balanced translocation: phenotypic heterogeneity due to duplication of 8q and 12p.J. Pediatr. Genet. 2013; 2: 163-169https://doi.org/10.3233/PGE-13062
- Synucleinopathies: clinical and pathological implications.Arch. Neurol. 2001; 58: 186-190https://doi.org/10.1001/archneur.58.2.186
- Lewy bodies.Proc. Natl. Acad. Sci. U. S. A. 2006; 103: 1661-1668
- Revisiting protein aggregation as pathogenic in sporadic Parkinson and Alzheimer diseases.Neurology. 2019; 92: 329-337https://doi.org/10.1212/WNL.0000000000006926
- Lewy-body formation is an aggresome-related process: a hypothesis.Lancet Neurol. 2004; 3: 496-503https://doi.org/10.1016/S1474-4422(04)00827-0
- Alpha-Synuclein: from early synaptic dysfunction to neurodegeneration.Front. Neurol. 2018; 9: 295
- When do α-synucleinopathies start? An epidemiological timeline: a review.JAMA Neurol. 2018; 75: 503-509https://doi.org/10.1001/jamaneurol.2017.4243
- Anosmia is very common in the Lewy body variant of Alzheimer's disease.J. Neurol. Neurosurg. Psychiatry. 2005; 76: 1342-1347https://doi.org/10.1136/jnnp.2003.032003
- Treatments and compositions targeting α-synuclein: a patent review (2010–2016).Expert Opin. Ther. Patents. 2017; 27: 427-438https://doi.org/10.1080/13543776.2017.1261112