JNNP: RCF1-related co-dysfunction is one of the possible causes of multi-system contraction

Multisyscular atrophy (MSA) is a rare neurodegenerative disease that combines different manifestations of small brain injury, and Parkinson's disease and autologic neuro dysfunction rely on pathological examinations to determine diagnosis.
Consistent Diagnostic Standards (SCDC) divide patients into two groups based on symptoms of Parkinson's disease (MSA-P) or cerebral injury (MSA-C).
MSA is often misdiagnosed, especially early in the course of the disease, and only 60% of MSA meets pathological standards.
amplification of implicit inclusions in the replication factor C sub-unit 1 (RFC1) has been found to be the cause of late-oncward co-amplification disorders and co-optic disorders, neuropathy and foretrial non-reflective syndrome (CANNAS).
due to overlapping clinical characteristics of MSA and CANAS.
hypothetical recessive RFC1 amplification may be associated with patients who do not typically meet MSA diagnostic criteria.
this paper reports three cases of double allegen RFC1 amplification: two clinically diagnosed as "suspected" MSA and one with SCDC-based diagnosis as "suspected" MSA.
207 "suspected" MSA patients from the National Hospital for Neurology and Neurosurgery (NHNN).
all samples were cross-breeded with flank PCR, repeating lead PCR, and Southern.
three patients had double allegiant gene RFC1 amplification, as defined by no amplification on PCR, and the repeated lead PCR of AAGGG(n) tested positive.
in clinical MSA cases, the allegiar gene frequency of pathogenic AAGGG(n) was 1.7% (n-7) and the allegiar gene frequency of AAAGG(n) was 2.4% (n-) 10), the allegies frequency of AAAAG(n) is 11.4% (n-47), and the allegation gene frequency of AAG (11) is 82.8% (n-343).
Southern hybridization showed two large amplifications, 9434 kb (887 duplicate units) and 12,477 kb (1495 duplicate units) in Patient 1, respectively, and 11,244 kb (1249 duplicate units) in Patient 2, corresponding to two amplification allegation genes.
patient 1 suspected MSA: Symptoms appear at age 62, and autonotic nerve tests within 3 years of onset show mild cardiovascular autonomissive neurological dysfunction, L-Doba non-reactive Parkinson's syndrome, and microcephaly syndrome.
wheelchair at the age of 67, accompanied by neurogenic bladder and pre-syndrome.
patients 2 suspected MSA: symptoms start at age 62, standing blood pressure drops . . . 30 mm/15 mm Hg, symptoms are unexplained bladder emergency, L-Doba non-reactive Parkinson's syndrome and microcephaly syndrome.
her initial symptoms were positional vertigo, gait imbalance and cough, and quickly declined over a period of more than two years, with difficulty swallowing, dysphagia and a mild neurogenic bladder.
patients with 3 suspected MSA: symptoms appear at age 53, blood pressure drops by 30 mm/15 mm Hg, L-Doba non-reactive Parkinson's syndrome and microcephaly syndrome.
her initial clinical manifestations were gait imbalance, dysphonic disorders and increased external tense in the right-hand cone.
this paper has been reported in three patients with repeated amplification of the double allied gene RFC1, manifested as coenzy brain disorders and Parkinson's syndrome.
this expands the range of RFC1-related diseases, from idiopathic retardation disorders to CANNAS, but does not exist in neuropathologically confirmed MSA cases.
this paper, the esomoria includes other atypical Parkinson's esomoria.
if these cases were autopsied, they might not see the pathological results of MSA.
Sullivan R, Yau WY, Chelban V, et al RFC1-related ataxia is a mimic of early multiple system atrophy Journal of Neurology, Neurosurgery and Pressy Published Online First: 09 February 2021. doi: 10.1136/jnnp-2020-32509 2MedSci Original Source: MedSci Original Copyright Notice: All text, images and audio and video materials on this website that indicate "Source: Mets Medicine" or "Source: MedSci Original" are owned by Mets Medicine and are not authorized to be reproduced by any media, website or individual, and must be reproduced with the words "Source: Mets Medicine".
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