AI Article Synopsis
- Spinocerebellar ataxia type 3 (SCA3) is a rare neurodegenerative disorder characterized by progressive loss of coordination and can sometimes mimic Parkinson-like symptoms, though actual cases of Parkinson's-like manifestations are uncommon.
- A 40-year-old Chinese woman initially diagnosed with dopamine-responsive dystonia exhibited anxiety, sleep issues, and gait disorders similar to Parkinson's, but genetic testing ultimately confirmed she had SCA3.
- The case emphasizes the need for careful differentiation between SCA3, Parkinson's syndrome, and other similar disorders due to SCA3's diverse clinical presentations.
Article Abstract
Background: Spinocerebellar ataxia type 3 (SCA3) is a rare neurodegenerative disease with high genetic heterogeneity. SCA3 mainly manifests as progressive cerebellar ataxia accompanied by paralysis of extraocular muscles, dysphagia, lingual fibrillation, pyramidal tract sign, and extrapyramidal system sign. However, it rarely has clinical manifestations similar to Parkinson-like symptoms, and is even rarer in patients sensitive to dopamine. We report a patient initially diagnosed with dopamine-responsive dystonia who was ultimately diagnosed with SCA3 by genetic testing, which was completely different from the initial diagnosis.
Case Summary: A 40-year-old Chinese woman was admitted to hospital due to severe inflexibility. At the beginning of the disease, she presented with anxiety and sleep disorder. At the later stage, she presented with gait disorder, which was similar to Parkinson's disease. Her medical history was unremarkable, but her mother, grandmother, and uncle all had similar illnesses and died due to inability to take care of themselves and related complications. Laboratory and imaging examinations showed no abnormalities, but electromyography and electroencephalography revealed delayed somatosensory evoked potentials and slow background rhythm, respectively. Her symptoms fluctuated during the daytime, and we initially diagnosed her with dopamine-responsive dystonia. After treatment with low-dose levodopa, the patient's symptoms were significantly improved, but the final genetic diagnosis was SCA3.
Conclusion: SCA3 has various clinical phenotypes and needs to be differentiated from Parkinson's syndrome and dopamine-responsive dystonia.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8554412 | PMC |
| http://dx.doi.org/10.12998/wjcc.v9.i28.8552 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Segawa Syndrome, a Dramatic Response to Dopamine.
Case Rep Neurol Med
March 2024
Department of Neurology, Grande International Hospital, Tokha, Kathmandu, Nepal.
Segawa syndrome usually manifests as dystonia, disturbance of gait with fatigue, and may be confused with spasticity. Also known as dopamine-responsive dystonia (DRD), it should be considered in any child who presents with paroxysmal or progressive hypertonia of unknown etiology, which responds dramatically to levodopa. It is a clinical diagnosis, but the level of pterins in cerebrospinal fluid and guanosine triphosphate cyclohydrolase-1 (GTCH 1) gene mutation testing done by molecular genetic testing are confirmatory.
View Article and Find Full Text PDFAn Inversion Affecting the GCH1 Gene as a Novel Finding in Dopa-Responsive Dystonia.
Mov Disord Clin Pract
May 2024
Neurology Department, Concord Repatriation General Hospital, Sydney, New South Wales, Australia.
Dopa-Responsive Dystonia: An Early Presentation of Ataxia-Telangiectasia.
Ann Indian Acad Neurol
November 2022
MD Pediatrics MRCPCH (Lon), Consultant Pediatric Neurologist, NH SRCC Children Hospital, Mumbai, Maharashtra, India.
Article Synopsis
- Ataxia-telangiectasia (AT) is a rare genetic disorder characterized by ataxia, skin changes, and immune deficiency that usually leads to movement issues later in life.
- Diagnosing variant ataxia-telangiectasia (variant AT) is important when symptoms differ from the typical progression, as it can show various forms of the disease.
- This report discusses a unique case of variant AT where the patient initially presented with dopamine-responsive dystonia, highlighting the importance of recognizing atypical symptoms for better management and family support.
Relevance of Fluorodopa PET Scan in Dopamine Responsive Dystonia and Juvenile Parkinsonism: A Systematic Review.
Neurol Int
December 2022
Neurology Department, Augusta University, Medical College of Georgia, Augusta, GA 30909, USA.
Background: Dopamine Responsive Dystonia (DRD) and Juvenile Parkinsonism (JP) are two diseases commonly presenting with parkinsonian symptoms in young patients. Current clinical guidelines offer a diagnostic approach based on molecular analysis. However, developing countries have limitations in terms of accessibility to these tests.
View Article and Find Full Text PDFChromosomal-level genome of velvet bean (Mucuna pruriens) provides resources for L-DOPA synthetic research and development.
DNA Res
August 2022
State Key Laboratory of Quality Research in Chinese Medicine, Institute of Chinese Medical Sciences, University of Macau, Macao 999078, China.
Mucuna pruriens, commonly called velvet bean, is the main natural source of levodopa (L-DOPA), which has been marketed as a psychoactive drug for the clinical management of Parkinson's disease and dopamine-responsive dystonia. Although velvet bean is a very important plant species for food and pharmaceutical manufacturing, the lack of genetic and genomic information about this species severely hinders further molecular research thereon and biotechnological development. Here, we reported the first velvet bean genome, with a size of 500.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!