[CANVAS: case report on a novel repeat expansion disorder with late-onset ataxia]. / CANVAS: Fallbericht einer neuen Repeat-Erkrankung mit spät beginnender Ataxie.
Nervenarzt
; 91(6): 537-540, 2020 Jun.
Article
en De
| MEDLINE
| ID: mdl-32367146
ABSTRACT
This article presents the case of a 74-year-old female patient who first developed a progressive disease with sensory neuropathy, cerebellar ataxia and bilateral vestibulopathy at the age of 60 years. The family history was unremarkable. Magnetic resonance imaging (MRI) showed atrophy of the cerebellum predominantly in the vermis and atrophy of the spinal cord. The patient was given the syndromic diagnosis of cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS). In 2019 the underlying genetic cause of CANVAS was discovered to be an intronic repeat expansion in the RFC1 gene with autosomal recessive inheritance. The patient exhibited the full clinical picture of CANVAS and was tested positive for this repeat expansion on both alleles. The CANVAS is a relatively frequent cause of late-onset hereditary ataxia (estimated prevalence 513/100,000). In contrast to the present patient, the full clinical picture is not always present. Therefore, testing for the RFC1 gene expansion is recommended in the work-up of patients with otherwise unexplained late-onset sporadic ataxia. As intronic repeat expansions cannot be identified by next generation sequencing methods, specific testing is necessary.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Ataxia Cerebelosa
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Enfermedades del Sistema Nervioso Periférico
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Vestibulopatía Bilateral
Tipo de estudio:
Diagnostic_studies
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Prognostic_studies
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Risk_factors_studies
Límite:
Aged
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Female
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Humans
Idioma:
De
Revista:
Nervenarzt
Año:
2020
Tipo del documento:
Article