Parkinson’s disease and multiple system atrophy are gateways to RFC1-related disorders Article Swipe
Violette Delforge
,
Giulia Coarelli
,
Eugénie Mutez
,
Anne‐Sophie Rolland
,
Anna Wissocq
,
Amelie LABUDECK
,
Christianne MARZYS
,
Nazha BOUCETTA
,
Luc Buée
,
David Blum
,
Ana Marquès
,
Florence Démurger
,
Jean‐Philippe Azulay
,
Aymeric Lanore
,
Christelle Tesson
,
Suzanne Lesage
,
Alexis Brice
,
David Grabli
,
David Devos
,
Alexandra Dürr
,
Vincent Huin
·
YOU?
·
· 2025
· Open Access
·
· DOI: https://doi.org/10.1101/2025.08.18.25332961
YOU?
·
· 2025
· Open Access
·
· DOI: https://doi.org/10.1101/2025.08.18.25332961
Biallelic pathogenic expansions of the RFC1 gene are the genetic cause of cerebellar ataxia, neuropathy, and bilateral vestibular areflexia syndrome. Sensory neuropathy is the most common symptom, but the clinical impairments and gateways to RFC1 -related diseases are extremely variable. We genotyped patients with parkinsonism to test the hypothesis that this condition is another such gateway. We screened four cohorts of patients with parkinsonism ( n = 2037) for pathogenic expansions in the RFC1 gene. In patients bearing two pathogenic expansions, we excluded the possibility of other pathogenic variants by exome sequencing. We detected 10/2037 (0.5%) biallelic (AAGGG) n RFC1 expansions. The initial diagnosis was Parkinson’s disease in five patients, multiple system atrophy in three and atypical parkinsonism in two. Phenotypes perfectly mimicking Parkinson’s disease and multiple system atrophy defined according to the international diagnostic criteria may serve as gateways to some RFC1 -related disorders. These results could modify the diagnostic and management of these two diseases. The diagnosis and follow-up of patients with parkinsonism should include searches for typical features evocative of a RFC1 -relative disease, such as sensory neuropathy or chronic cough. Nerve conduction studies should be conducted in patients with unexplained symptoms of neuropathic pain or sensory neuropathy. We also suggest that RFC1 screening should be performed in patients with atypical parkinsonism or multiple system atrophy with a long survival. Trial Registration Information: The PREDISTIM cohort is registered with ClinicalTrials.gov : NCT02360683 Graphical abstract MSA = multiple system atrophy; PD = Parkinson’s disease; RFC1 = replication factor C subunit 1
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Metadata
- Type
- preprint
- Language
- en
- Landing Page
- https://doi.org/10.1101/2025.08.18.25332961
- https://www.medrxiv.org/content/medrxiv/early/2025/08/25/2025.08.18.25332961.full.pdf
- OA Status
- green
- References
- 41
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W4413570387
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
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https://openalex.org/W4413570387Canonical identifier for this work in OpenAlex
- DOI
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https://doi.org/10.1101/2025.08.18.25332961Digital Object Identifier
- Title
-
Parkinson’s disease and multiple system atrophy are gateways to RFC1-related disordersWork title
- Type
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preprintOpenAlex work type
- Language
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enPrimary language
- Publication year
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2025Year of publication
- Publication date
-
2025-08-25Full publication date if available
- Authors
-
Violette Delforge, Giulia Coarelli, Eugénie Mutez, Anne‐Sophie Rolland, Anna Wissocq, Amelie LABUDECK, Christianne MARZYS, Nazha BOUCETTA, Luc Buée, David Blum, Ana Marquès, Florence Démurger, Jean‐Philippe Azulay, Aymeric Lanore, Christelle Tesson, Suzanne Lesage, Alexis Brice, David Grabli, David Devos, Alexandra Dürr, Vincent HuinList of authors in order
- Landing page
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https://doi.org/10.1101/2025.08.18.25332961Publisher landing page
- PDF URL
-
https://www.medrxiv.org/content/medrxiv/early/2025/08/25/2025.08.18.25332961.full.pdfDirect link to full text PDF
- Open access
-
YesWhether a free full text is available
- OA status
-
greenOpen access status per OpenAlex
- OA URL
-
https://www.medrxiv.org/content/medrxiv/early/2025/08/25/2025.08.18.25332961.full.pdfDirect OA link when available
- Concepts
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Parkinson's disease, Atrophy, Disease, Neuroscience, Medicine, Physical medicine and rehabilitation, Biology, PathologyTop concepts (fields/topics) attached by OpenAlex
- Cited by
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0Total citation count in OpenAlex
- References (count)
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41Number of works referenced by this work
- Related works (count)
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10Other works algorithmically related by OpenAlex
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| referenced_works | https://openalex.org/W2933273758, https://openalex.org/W2951000946, https://openalex.org/W3123380966, https://openalex.org/W3005188864, https://openalex.org/W3161243928, https://openalex.org/W4283714860, https://openalex.org/W4383371739, https://openalex.org/W4386447217, https://openalex.org/W4394803747, https://openalex.org/W2112455323, https://openalex.org/W4200146429, https://openalex.org/W3006112859, https://openalex.org/W4281387908, https://openalex.org/W4280519743, https://openalex.org/W3092788560, https://openalex.org/W3182879972, https://openalex.org/W4298088705, https://openalex.org/W4386725067, https://openalex.org/W4206699224, https://openalex.org/W4318263868, https://openalex.org/W4398762620, https://openalex.org/W4406607500, https://openalex.org/W3134225603, https://openalex.org/W3007100271, https://openalex.org/W3018433116, https://openalex.org/W3128249280, https://openalex.org/W3087077574, https://openalex.org/W4281702133, https://openalex.org/W4224213495, https://openalex.org/W4324129997, https://openalex.org/W4392816631, https://openalex.org/W1981336920, https://openalex.org/W4385253161, https://openalex.org/W3007608518, https://openalex.org/W4389485935, https://openalex.org/W4211219399, https://openalex.org/W3080885238, https://openalex.org/W3090572476, https://openalex.org/W4388222323, https://openalex.org/W4391131887, https://openalex.org/W4409486670 |
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