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)
Subject
Radiology, Nuclear Medicine and imaging,General Medicine