2020
DOI: 10.1007/s10072-020-04895-4
|View full text |Cite|
|
Sign up to set email alerts
|

Spasmodic cough preceding CANVAS phenotype in a family with biallelic repeat expansions in RFC1

Help me understand this report

Search citation statements

Order By: Relevance

Paper Sections

Select...
3
2

Citation Types

0
5
0

Year Published

2021
2021
2024
2024

Publication Types

Select...
4
1

Relationship

0
5

Authors

Journals

citations
Cited by 5 publications
(5 citation statements)
references
References 10 publications
0
5
0
Order By: Relevance
“…Chronic cough seems to be a hallmark feature associated with RFC1 , both in this cohort and in previous studies [5–7]. Despite chronic cough being an inclusion criterion in this cohort and the finding that 25% of the examined patients with cough were not carriers of the biallelic mutation, chronic cough still seems highly suggestive of RFC1 expansions.…”
Section: Discussionmentioning
confidence: 50%
See 1 more Smart Citation
“…Chronic cough seems to be a hallmark feature associated with RFC1 , both in this cohort and in previous studies [5–7]. Despite chronic cough being an inclusion criterion in this cohort and the finding that 25% of the examined patients with cough were not carriers of the biallelic mutation, chronic cough still seems highly suggestive of RFC1 expansions.…”
Section: Discussionmentioning
confidence: 50%
“…RFC1 expansions are a frequent genetic cause for the ataxianeuropathy spectrum [4][5][6][7][8]. Due to the intronic location, pathogenic RFC1 expansion cannot be detected by whole-exome sequencing (WES).…”
Section: Introductionmentioning
confidence: 99%
“…In a Portuguese family with 15 members, where four of them were affected, biallelic AAGGG repeat expansion was detected in the affected individuals, leading to the diagnosis of CANVAS [13]. In an Asian-Paci c cohort screened for CANVAS a novel RFC1 repeat expansion motif, (ACAGG) was identi ed, in three affected individuals from two different families Their additional clinical features including fasciculations and elevated serum creatine kinase levels suggested CANVAS may involve anterior horn cells in addition to the previously described dorsal root ganglia and cranial nerve ganglia involvement [14].…”
Section: Discussionmentioning
confidence: 99%
“…4 This dry, spasmodic cough with normal ENT, and pulmonary examinations can precede the onset of significant neurologic symptoms by up to three decades. [4][5][6] The pathophysiologic mechanisms are unknown but are thought to be secondary to vagal neuronopathy or upper airway and esophagus hypersensitivity due to afferent fiber dysfunction. 7,8 Despite recent efforts in neurology to understand CANVAS symptomatology, there have been almost no studies characterizing the cough as a hallmark presenting symptom in this neurodegenerative disease.…”
Section: Introductionmentioning
confidence: 99%
“…Interestingly, chronic cough has been reported by over 60% of patients with CANVAS and suggested as an integral clinical component 4 . This dry, spasmodic cough with normal ENT, and pulmonary examinations can precede the onset of significant neurologic symptoms by up to three decades 4–6 . The pathophysiologic mechanisms are unknown but are thought to be secondary to vagal neuronopathy or upper airway and esophagus hypersensitivity due to afferent fiber dysfunction 7,8 …”
Section: Introductionmentioning
confidence: 99%