AI 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.
Article Abstract
Ataxia-telangiectasia (AT) is a complex genetic neurodegenerative disease with autosomal recessive inheritance. The typical initial features of ataxia telangiectasia include ataxia, cutaneous telangiectasia, and immune deficiency with recurrent infections. Usually, movement disorder occurs late in the course of the disease. A diagnosis of variant or atypical ataxia-telangiectasia (variant AT) is considered in case of any deviation from the normal course of illness giving rise to variable presentations of the disease. Only a few cases of variant AT with predominant movement disorder have been reported worldwide. A knowledge of atypical presentations helps in early diagnosis and thus to initiate management and counselling of the family at the earliest. Here, we report a case of genetically confirmed ataxia-telangiectasia with an initial presentation of dopamine responsive dystonia.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9996480 | PMC |
| http://dx.doi.org/10.4103/aian.aian_690_22 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Diverse phenotype of Ménière's disease associated with family history, thyroid disorder, migraine and associated disorders.
J Otol
October 2024
Department of Otolaryngology-Head and Neck Surgery, University of Colorado School of Medicine, Aurora, CO, USA.
Objective: To better understand the clinical phenotype of Ménière's disease (MD), we examined family history, thyroid disorder, migraine, and associated disorders in complaints of people living with MD.
Method: We designed the study as a retrospective and examined data gathered from 912 participants with MD. Their data were originally collected by the Finnish Ménière Federation (FMF).
The Story of the Stop Stigma Together Campaign: A National Movement to Stop the Stigma of Mental and Substance Use Disorders.
Focus (Am Psychiatr Publ)
January 2025
Visionary Leadership, Bethesda, Maryland.
Positive Clinical, Neuropsychological, and Metabolic Impact of Liver Transplantation in Patients With Argininosuccinate Lyase Deficiency.
J Inherit Metab Dis
January 2025
Division of Metabolic Diseases and Hepatology, Bambino Gesù Children's Hospital IRCCS, Rome, Italy.
Liver transplantation (LTx) is increasingly used in Urea Cycle Defects (UCDs) to prevent recurrent hyperammonemia and related neurological irreversible injury. Among UCDs, argininosuccinate lyase deficiency (ASLD) has a more complex phenotype than other UCDs, with long-term neurocognitive deficits. Therefore, the role of LTx in ASLD is still debated.
View Article and Find Full Text PDFOpen-label evaluation of oral trehalose in patients with neuronal ceroid lipofuscinoses.
J Neurol
January 2025
IRCCS Stella Maris Foundation, Via Dei Giacinti 2, 56128, Pisa, Italy.
The neuronal ceroid lipofuscinoses (NCLs) are incurable pediatric neurodegenerative diseases characterized by accumulation of lysosomal material and dysregulation of autophagy. Given the promising results of treatment with trehalose, an autophagy inducer, in cell and animal models of NCL, we conducted an open-label, non-placebo-controlled, non-randomized 12-month prospective study in NCL patients receiving oral trehalose (4 g/day). All were treated with a commercially available formulation for 6 months, followed by a 6-month washout.
View Article and Find Full Text PDFDifferential striatal dopamine binding in Parkinson's Disease with and without REM sleep behavior disorder: A Tc-99 m TRODAT-1 SPECT study.
Geroscience
January 2025
Department of Neurology, Kaohsiung Medical University Hospital, Kaohsiung Medical University, Kaohsiung, Taiwan.
Background: Rapid eye movement (REM) sleep behavior disorder (RBD) is an early and significant prodromal marker for Parkinson's disease (PD). While the association between RBD and PD has been well-documented, the underlying pathophysiology differentiating PD patients with RBD (PD-RBD +) from those without RBD (PD-RBD-) remained unclear. This study aims to investigate the possible relationship between RBD and striatal dopamine depletion in de novo PD patients.
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!