A case of spinocerebellar ataxia type 8 presenting with multiple system atrophy cerebral type
Journal Title: Chinese Journal of Nervous and Mental Diseases - Year 2024, Vol 50, Issue 9
Abstract
We report a case of spinocerebellar ataxia type 8 (SCA8) presenting with multisystem atrophic phenotype. The patient was a 57-year-old male with a 4-year course of illness with dizziness and ataxia as the first symptoms, followed by autonomic dysfunction and rapid eye movement sleep disorder. Neurological examination reveals autonomic dysfunction, nystagmus, dysarthria, ataxia, brain stem and cerebellar symmetrical atrophy and “hot cross bun” sign on MRI. The diagnosis of SCA8 was confirmed by the genetic testing which showed an abnormally high number of CTA/CTG repeats in the two alleles of the ATXN8OS. The patient responded well to symptomatic treatment such as ataxia and autonomic dysfunction. SCA8 is a rare movement disorder with high clinical heterogeneity. This report suggests that SCA8 can also present with autonomic dysfunction, ataxia, pontine “hot cross bun” sign and other characteristics similar to multisystem atrophy phenotype. Thus, it is necessary for clinicians to avoid misdiagnosis or missing the diagnosis of SCA8 presenting with multiple system atrophy cerebral type in clinical work.
Authors and Affiliations
Yajie ZHANG, Keliang CHEN, Jintai. YU
Keywords
Related Articles
- EP ID EP750542
- DOI 10.3969/j.issn.1002-0152.2024.09.007
- Views 1
- Downloads 0
Establishment of an animal model of no-reflow ischemic stroke and the multidimensional evaluation system
[Objective] The purpose of this study was to explore a suitable method to model no-reflow phenomenon following ischemic stroke and to evaluate perfusion decrease from multiple perspectives. [Methods] Laser scatter contra...
Insular involvement after cerebral infarction predicts the risk of cardioembolic stroke
[Objective] To determine whether insular involvement was associated with cardioembolic stroke (CES) in patients with middle cerebral artery (MCA) infarction. [Methods] The patients with MCA infarction admitted to stroke...
Research progress on brain structure and function in patients with major depressive disorder after modified electroconvulsive therapy
Modified electroconvulsive therapy (MECT) has a good therapeutic effect on major depressive disorder (MDD), but its mechanism of action is still unclear. In recent years, accumulated studies have confirmed the effects of...
Progress in clinical treatment of low-grade gliomas
low-grade glioma (LGG) is a slow-growing primary brain tumor originating from glial cells. The overall prognosis of LGG is good but incurable. The vast majority of LGG will have relapses, and some even progress to high-g...
The clinical value of visual evoked potential in assessing visual pathway of visual hallucinations in Parkinson disease
[Objective] This research was to evaluate the integrity of visual pathways in patients with Parkinson disease (PD) by visual evoked potential (VEP), especially those with visual hallucinations. [Methods] A total of 76 PD...