Cerebellar Ataxia With Neuropathy and Vestibular Areflexia Syndrome Due to Replication Factor C Subunit 1 Gene Repeat Expansion-Reference-Cited by-同舟云学术

Cerebellar Ataxia With Neuropathy and Vestibular Areflexia Syndrome Due to Replication Factor C Subunit 1 Gene Repeat Expansion

Published:2024-01-15 Issue:3 Volume:49 Page:242-243
ISSN:1536-0229
Container-title:Clinical Nuclear Medicine
language:en
Short-container-title:Clin Nucl Med

Author:

Tsuchiya Mitsuteru¹,Bunai Tomoyasu²,Watanabe Kazuki,Saitsu Hirotomo³,Goshima Satoshi¹

Affiliation:

1. Radiology

2. Neurology

3. Biochemistry, Hamamatsu University School of Medicine, Shizuoka, Japan.

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.

Publisher

Ovid Technologies (Wolters Kluwer Health)

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