A Case of Spinocerebellar Ataxia Type 6 Who Presented with Symptoms of Cerebellar Ataxia with Neuropathy and Vestibular Areflexia Syndrome
Year: 2025
Type: article
Study design: Case Report
Abstract: The present case report documents the case of an 83-year-old female patient who was diagnosed as having spinocerebellar ataxia type 6 (SCA6). The patient was initially suspected as having cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS) due to the severe bilateral vestibular disorder. She had experienced unsteadiness and slurred speech for years. During the neurologist consultation, it was determined that she was exhibiting symptoms of cerebellar ataxia. The patient had a negative family history of cerebellar ataxia. A comprehensive clinical evaluation revealed the presence of gaze-evoked nystagmus, saccadic pursuit, and diminished vibration sense in the lower limbs. No spontaneous, positional, or positioning nystagmus was observed. The hearing test revealed only age-appropriate sensorineural hearing loss. Brain MRI revealed mild cerebellar atrophy. The video head impulse test (vHIT) showed decreased vestibulo-ocular reflex (VOR) gain in all semicircular canals on both sides. As the findings were possibly suggestive of CANVAS, genetic testing was performed, which revealed that the diagnosis was not CANVAS, but rather SCA6.
Source: Equilibrium Research
DOI: 10.3757/jser.84.533
Authors: Hideaki Takeda, Keishi Fujiwara, Akihiro Homma
Institution: Hokkaido University
Language: English
Subfield: Cellular and Molecular Neuroscience
Field: Neuroscience
Domain: Life Sciences
Open Access status: diamond
OpenAlex ID: W7127045470