Cerebellar Ataxia With Neuropathy and Vestibular Areflexia Syndrome Due to Replication Factor C Subunit 1 Gene Repeat Expansion.
Clin Nucl Med
; 49(3): 242-243, 2024 Mar 01.
Article
en En
| MEDLINE
| ID: mdl-38306376
ABSTRACT
ABSTRACT A 56-year-old man was born to consanguineous parents. He experienced slow-progressing sensory disturbances in the upper extremities. T1-weighted images showed cerebellar atrophy. 123I-IMP SPECT revealed reduced cerebral blood flow in the cerebellum. 123I-FP-CIT SPECT showed low uptake of dopamine transporter in the bilateral tail of the striatum. 123I-MIBG scintigraphy shows a decreased heart-to-mediastinum ratio. Flanking polymerase chain reaction suggested biallelic repeat expansion in intron 2 of RFC1, and subsequent repeat-primed polymerase chain reaction revealed ACAGG repeat expansion. Thus, he was diagnosed as cerebellar ataxia with neuropathy and vestibular areflexia syndrome.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Ataxia Cerebelosa
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Vestibulopatía Bilateral
Tipo de estudio:
Diagnostic_studies
Límite:
Humans
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Male
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Middle aged
Idioma:
En
Revista:
Clin Nucl Med
Año:
2024
Tipo del documento:
Article