A 43-year-old man presented with splenomegaly and a 20-year history of a neurologic disorder that included vertical supranuclear ophthalmoplegia, mild dementia, and a movement disorder. Adult dystonic lipidosis was diagnosed from the clinical picture and demonstration of foamy and sea-blue histiocytes in bone marrow. Ultrastructural patterns in cytolysosomes suggested accumulation of neutral fat and phospholipids. Liver content of bis-(monoacylglycerol) phosphate was increased, probably because the number of lysosomes had increased. Sphingomyelinase activity was normal in cultured skin fibroblasts. Juvenile and adult dystonic lipidosis form a clinically, histologically, and biochemically distinct neurovisceral storage disease that differs from Niemann-Pick disease.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1212/wnl.32.11.1295 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Pathogenic Variant in the 5'-Untranslated Region of and Clinical Heterogeneity in a Chinese Family with Dopa-Responsive Dystonia.
Tremor Other Hyperkinet Mov (N Y)
January 2025
Department of General Medicine, Xiangya Hospital, Central South University, Changsha, Hunan 410008, China.
Background: Variants in the gene, encoding guanosine triphosphate cyclohydrolase, are associated with dopa-responsive dystonia (DRD) and are considered risk factors for parkinson's disease.
Methods: Comprehensive neurological assessments documented motor and non-motor symptoms in a Chinese family affected by DRD. Whole-exome sequencing (WES) was employed to identify potential mutations, with key variants confirmed by Sanger sequencing and analyzed for familial co-segregation.
Sustained quality-of-life improvements over 10 years after subthalamic nucleus deep brain stimulation for isolated dystonia.
J Neurol
January 2025
Department of Neurology and Institute of Neurology, Ruijin Hospital, Affiliated with Shanghai Jiao Tong University School of Medicine, 197 Ruijin Er Road, Shanghai, 200025, China.
Background: Bilateral deep brain stimulation (DBS) of subthalamic nucleus (STN) has demonstrated efficacy for ameliorating medication-refractory isolated dystonia. Nonetheless, the paucity of evidence regarding its long-term impact on quality-of-life (QoL) necessitates further investigation.
Objectives: This study aimed to elucidate the longitudinal effects of chronic STN stimulation on QoL in patients suffering from isolated dystonia.
Risk of Spreading in Adult-onset Dystonia.
Tremor Other Hyperkinet Mov (N Y)
December 2024
Istanbul University-Cerrahpasa, Cerrahpasa Medical Faculty, Department of Neurology, Istanbul, Turkey.
Article Synopsis
- Adult-onset dystonia can spread to other body parts, but it's less common than in childhood-onset cases.
- The study analyzed medical records of 434 adult patients to identify clinical factors linked to whether their dystonia symptoms spread.
- Out of the patients, 11.1% experienced spreading, with older age at onset being a significant risk factor; however, the exact mechanisms and genetic influences behind this spreading are still not fully understood.
Unraveling the neural signatures: Distinct pallidal patterns in dystonia subtypes.
Parkinsonism Relat Disord
January 2025
Department of Biomedical Engineering, Case Western Reserve University, Cleveland, OH, USA; Department of Neurology, Case Western Reserve University, Cleveland, OH, USA; Neurological Institute, University Hospitals, Cleveland, OH, USA; Neurology Service, Louis Stokes Cleveland VA Medical Center, Cleveland, OH, USA. Electronic address:
Introduction: Dystonia manifests as slow twisting movements (pure dystonia) or repetitive, jerky motions (jerky dystonia). Dystonia can coexist with myoclonus (myoclonus dystonia) or tremor (tremor dystonia). Each of these presentations can have distinct etiology, can involve discrete sensorimotor networks, and may have characteristic neurophysiological signature.
View Article and Find Full Text PDFMethylation assay in KMT2B-related dystonia: a novel diagnostic validation tool.
Clin Epigenetics
November 2024
Laboratorio de Citogenomica, Departamento de Patologia, Faculdade de Medicina FMUSP, Universidade de Sao Paulo, Sao Paulo, SP, Brazil.
Background/objectives: KMT2B-related dystonia (DYT28, OMIM #617284) is a progressive neurological condition characterized by early onset movement disorders with autosomal dominant inheritance. In this study, we describe the use of a genome methylation episignature methodology to functionally validate two variants of uncertain significance (VUS) in the KMT2B gene.
Methods: Genome-wide methylation status was assessed using the EPIC methylation assay in peripheral blood samples from two subjects with early onset movement disorder and missense variants of uncertain significance in the KMT2B gene (p.
Want 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!