RFC1 AAGGG repeat expansion masquerading as Chronic Idiopathic Axonal Polyneuropathy
| Autor: | Silvia Testi, Sergio Ferrari, Tiziana Cavallaro, Davide Cardellini, Moreno Ferrarini, Salvatore Monaco, Gian Maria Fabrizi, Matteo Tagliapietra |
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| Rok vydání: | 2021 |
| Předmět: |
0301 basic medicine
Proband Adult medicine.medical_specialty Neurology Cerebellar Ataxia Bilateral Vestibulopathy Gastroenterology 03 medical and health sciences Polyneuropathies 0302 clinical medicine Sensory ataxia Vestibular Areflexia Syndrome Internal medicine Chronic Idiopathic Axonal Neuropathy medicine Humans Replication Protein C Pathological Replication factor C subunit 1 Vestibular areflexia Original Communication Cerebellar ataxia business.industry Neuropathy 030104 developmental biology Concomitant Ataxia Neurology (clinical) medicine.symptom business Trinucleotide repeat expansion 030217 neurology & neurosurgery |
| Zdroj: | Journal of Neurology |
| ISSN: | 1432-1459 |
| Popis: | Background A biallelic intronic AAGGG repeat expansion in the Replication Factor C subunit 1 (RFC1) gene has been recently associated with Cerebellar Ataxia, Neuropathy, Vestibular Areflexia Syndrome, a disorder often presenting as a slowly evolving sensory neuropathy at the onset. “Chronic Idiopathic Axonal Polyneuropathy” (CIAP) is a common indolent axonal neuropathy of adulthood which remains without an identifiable cause despite thorough investigations. Methods We screened 234 probands diagnosed with CIAP for a pathogenic biallelic RFC1 AAGGG repeat expansion. Patients were selected from 594 consecutive patients with neuropathy referred to our tertiary-care center for a sural nerve biopsy over 10 years. Results The RFC1 AAGGG repeat expansion was common in patients with pure sensory neuropathy (21/40, 53%) and less frequent in cases with predominantly sensory (10/56, 18%, P P τb = 0.254, P P R = 0.275, P τb = − 0.362, P P = 0.02) and unmyelinated nerve fibers (85% vs 41%, POR 8.52 CI 95% 3.17–22.9, P Conclusions This study highlights the frequent occurrence of the RFC1 AAGGG repeat expansion in patients diagnosed with CIAP and characterizes the clinical and pathological features of the related neuro(no)pathy. |
| Databáze: | OpenAIRE |
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