synucleinopathy (includes alpha-synucleinopathy)
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Introduction
Diverse group of disorders characterized by abnormal deposition of alpha-synuclein, includes:
- Parkinson's disease
- dementia with Lewy bodies
- multiple system atrophy
- pure autonomic failure
- neuroaxonal dystrophies
- pantothenate kinase associated neurodegeneration
- subacute sclerosing panencephalitis
- some Alzheimer's disease, aging, Down's syndrome
Clinical manifestations
- REM sleep disorder may precede synucleinopathy by 50 years[3]
- strongest predictor of alpha-synucleinopathy[4]
- see specific synucleinopathy
Laboratory
- alpha synuclein aggregates in CSF (RT-QuIC test)
- neuronally derived extracellular vesicle alpha-synuclein Ag in serum may serve as a biomarker for prediction of alpha-synucleinopathies[4]
- skin biopsy detects cutaneous phosphorylated alpha-synuclein in 96% of patients with synucleinopathy[5]
Complications
Differential diagnosis
- other disorders which may also have alpha-synuclein deposits
- pathologic structures containing alpha synuclein deposits:
More general terms
More specific terms
- Hallervorden-Spatz disease; pantothenate kinase associated neurodegeneration (PKAN); neurodegeneration with brain iron accumulation type 1 (NBIA1); pigmentary pallidal degeneration
- Lewy body dementia
- Lewy body variant of Alzheimer's disease (AD)
- multiple system atrophy (MSA)
- Parkinson's disease (paralysis agitans, PD)
- pure autonomic failure (PAF)
References
- ↑ Marti, et al. Mov Disord. 2003 Sep;18 Suppl 6:S21-7. PMID: https://www.ncbi.nlm.nih.gov/pubmed/14502652
- ↑ Jellinger KA. Mov Disord. 2003 Sep;18 Suppl 6:S2-12. PMID: https://www.ncbi.nlm.nih.gov/pubmed/14502650
- ↑ 3.0 3.1 Claassen DO et al REM sleep behavior disorder preceding other aspects of synucleinopathies by up to half a century. Neurology. 2010 Aug 10;75(6):488-9. PMID: https://www.ncbi.nlm.nih.gov/pubmed/20668263
- ↑ 4.0 4.1 4.2 Yan S, Chang C, Janzen A et al. Neuronally derived extracellular vesicle alpha-synuclein as a serum biomarker for individuals at risk of developing Parkinson disease. JAMA Neurol 2024 Jan 1; 81:59-68. PMID: https://www.ncbi.nlm.nih.gov/pubmed/38048087 PMCID: PMC10696516 Free PMC article https://jamanetwork.com/journals/jamaneurology/fullarticle/2812433
- ↑ 5.0 5.1 George J Skin Test Detects Parkinson's and Other Synucleinopathies. Cutaneous alpha-synuclein deposits may serve as a biomarker. MedPage Today March 21, 2024 https://www.medpagetoday.com/neurology/parkinsonsdisease/109309
Gibbons CH, Levine T, Adler C et al Skin Biopsy Detection of Phosphorylated alpha-Synuclein in Patients With Synucleinopathies. JAMA. Published online March 20, 2024. PMID: https://www.ncbi.nlm.nih.gov/pubmed/38506839 https://jamanetwork.com/journals/jama/fullarticle/2816441