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
em 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
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Ataxia Cerebelar
/
Vestibulopatia Bilateral
Tipo de estudo:
Diagnostic_studies
Limite:
Humans
/
Male
/
Middle aged
Idioma:
En
Revista:
Clin Nucl Med
Ano de publicação:
2024
Tipo de documento:
Article
País de publicação:
Estados Unidos