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 26
- Downloads 0
Advancements in the application of telemedicine for epilepsy patient management
Telemedicine, particularly during the COVID-19 pandemic, has rapidly evolved and been widely adopted worldwide, notably enhancing epilepsy patient management. Literature review reveals effective remote consultations and...
Advances in morphology-based image post-processing techniques in the diagnosis and management of focal cortical dysplasia
Focal cortical dysplasia (FCD) is one of the most common etiologies leading to drug-resistant epilepsy (DRE), and its neuroimaging features are an important part of clinical evaluation. Only some types of FCD can show ab...
Clinical characteristics of 30 patients with intracranial hypotension syndrome
[Objective] To analyze and summarize the clinical presentation of spontaneous and secondary intracranial hypotension syndrome(IHS). [Methods] Patients diagnosed with spontaneous or secondary IHS from September 2022 to Ma...
A study on the correlation between smoking, light to moderate alcohol consumption, and cognitive function in elderly men in the community
[Objective] To explore the correlation between smoking, light to moderate alcohol consumption and cognitive function in elderly men in the community. [Methods] One thousand two hundred one elderly men (excluding heavy dr...
Research progress of psychological and biological mechanism of childhood trauma affecting social anxiety disorder
Social anxiety disorder has a significant negative impact on individuals’ social interaction and normal life, and childhood trauma plays an important role in the occurrence and development of SAD. Childhood trauma affect...