The Spectrum of Movement Disorders in Neuroacanthocytosis Syndromes: A Video Series.
Ontology highlight
ABSTRACT:
SUBMITTER: Neeraja K
PROVIDER: S-EPMC8354081 | biostudies-literature | 2021 Aug
REPOSITORIES: biostudies-literature
Publications
The Spectrum of Movement Disorders in Neuroacanthocytosis Syndromes: A Video Series.
Neeraja Koti K Prasad Shweta S Holla Vikram V VV Kamble Nitish N Yadav Ravi R Pal Pramod K PK
Movement disorders clinical practice 20210701 6
Similar Datasets
Project description:Neuroacanthocytosis (NA) syndromes are a group of genetically defined diseases characterized by the association of red blood cell acanthocytosis, progressive degeneration of the basal ganglia and neuromuscular features with characteristic persistent hyperCKemia. The main NA syndromes include autosomal recessive chorea-acanthocytosis (ChAc) and X-linked McLeod syndrome (MLS). A series of Italian patients selected through a multicenter study for these specific neurological phenotypes underwent DNA sequencing of the VPS13A and XK genes to search for causative mutations. Where it has been possible, muscle biopsies were obtained and thoroughly investigated with histochemical assays. A total of nine patients from five different families were diagnosed with ChAC and had mostly biallelic changes in the VPS13A gene (three nonsense, two frameshift, three splicing), while three patients from a single X-linked family were diagnosed with McLeod syndrome and had a deletion in the XK gene. Despite a very low incidence (only one thousand cases of ChAc and a few hundred MLS cases reported worldwide), none of the 8 VPS13A variants identified in our patients is shared by two families, suggesting the high genetic variability of ChAc in the Italian population. In our series, in line with epidemiological data, McLeod syndrome occurs less frequently than ChAc, although it can be easily suspected because of its X-linked mode of inheritance. Finally, histochemical studies strongly suggest that muscle pathology is not simply secondary to the axonal neuropathy, frequently seen in these patients, but primary myopathic alterations can be detected in both NA syndromes.
| S-EPMC7996727 | biostudies-literature
Project description:The two core neuroacanthocytosis (NA) syndromes, chorea-acanthocytosis (ChAc) and McLeod syndrome, are progressive neurodegenerative disorders that primarily affect the basal ganglia. The characteristic phenotype comprises a variety of movement disorders including chorea, dystonia, and parkinsonism, as well as psychiatric and cognitive symptoms attributable to basal ganglia dysfunction. These disorders are symptomatically managed on a case-by-case basis, with very few practitioners seeing more than a single case in their careers.A literature search was performed on PubMed utilizing the terms neuroacanthocytosis, chorea-acanthocytosis, and McLeod syndrome, and articles were reviewed for mentions of therapies, successful or otherwise.There have been no blinded, controlled trials and only one retrospective case series describing ChAc. The various therapies that have been used in patients with NA syndromes are summarized.Management remains at present purely symptomatic, which is similar in principle to other more common basal ganglia neurodegenerative disorders such as Huntington's disease (HD) and Parkinson's disease (PD). However, there are some specific issues particular to NA syndromes that merit attention. An integrated multidisciplinary approach is the ideal management strategy for these complex and multifaceted neurodegenerative disorders.
| S-EPMC4613733 | biostudies-other
Project description: Not available
| S-EPMC6201995 | biostudies-literature
Project description:The unique red blood cell (RBC) properties that characterize the rare neuroacanthocytosis syndromes (NAS) have prompted the exploration of osmotic gradient ektacytometry (Osmoscan) as a diagnostic tool for these disorders. In this exploratory study, we assessed if Osmoscans can discriminate NAS from other neurodegenerative diseases. A comprehensive assessment was conducted using Osmoscan on a diverse group of patients, including healthy controls (n = 9), neuroacanthocytosis syndrome patients (n = 6, 2 VPS13A and 4 XK disease), Parkinson's disease patients (n = 6), Huntington's disease patients (n = 5), and amyotrophic lateral sclerosis patients (n = 4). Concurrently, we collected and analyzed RBC indices and patients' characteristics. Statistically significant changes were observed in NAS patients compared to healthy controls and other conditions, specifically in osmolality at minimal elongation index (Omin), maximal elongation index (EImax), the osmolality at half maximal elongation index in the hyperosmotic part of the curve (Ohyper), and the width of the curve close to the osmolality at maximal elongation index (Omax-width). This study represents an initial exploration of RBC properties from NAS patients using osmotic gradient ektacytometry. While specific parameters exhibited differences, only Ohyper and Omax-width yielded 100% specificity for other neurodegenerative diseases. Moreover, unique correlations between Osmoscan parameters and RBC indices in NAS versus controls were identified, such as osmolality at maximal elongation index (Omax) vs. mean cellular hemoglobin content (MCH) and minimal elongation index (EImin) vs. red blood cell distribution width (RDW). Given the limited sample size, further studies are essential to establish diagnostic guidelines based on these findings.
| S-EPMC11292800 | biostudies-literature
Project description:There have been significant advances in neuroacanthocytosis (NA) syndromes in the past 20 years, however, confusion still exists regarding the precise nature of these disorders and the correct nomenclature. This article seeks to clarify these issues and to summarise the recent literature in the field. The four key NA syndromes are described here-chorea-acanthocytosis, McLeod syndrome, Huntington's disease-like 2, and pantothenate kinase- associated neurodegeneration. In the first two, acanthocytosis is a frequent, although not invariable, finding; in the second two, it occurs in approximately 10% of patients. Degeneration affecting the basal ganglia is the key neuropathologic finding, thus the clinical presentations can be remarkably similar. The characteristic phenotype comprises a variety of movement disorders, including chorea, dystonia, and parkinsonism, and also psychiatric and cognitive symptoms attributable to basal ganglia dysfunction. The age of onset, inheritance patterns, and ethnic background differ in each condition, providing diagnostic clues. Other investigations, including routine blood testing and neuroimaging can be informative. Genetic diagnosis, if available, provides a definitive diagnosis, and is important for genetic counseling, and hopefully molecular therapies in the future. In this article I provide a historical perspective on each NA syndrome. The first 3 disorders, chorea-acanthocytosis, McLeod syndrome, Huntington's disease-like 2, are discussed in detail, with a comprehensive review of the literature to date for each, while pantothenate kinase-associated neurodegeneration is presented in summary, as this disorder has recently been reviewed in this journal. Therapy for all of these diseases is, at present, purely symptomatic.
| S-EPMC4460540 | biostudies-other
Project description:The autosomal recessive ataxias are a heterogeneous group of disorders that are characterized by complex neurological features in addition to progressive ataxia. Hyperkinetic movement disorders occur in a significant proportion of patients, and may sometimes be the presenting motor symptom. Presentations with involuntary movements rather than ataxia are diagnostically challenging, and are likely under-recognized.A PubMed literature search was performed in October 2015 utilizing pairwise combinations of disease-related terms (autosomal recessive ataxia, ataxia-telangiectasia, ataxia with oculomotor apraxia type 1 (AOA1), ataxia with oculomotor apraxia type 2 (AOA2), Friedreich ataxia, ataxia with vitamin E deficiency), and symptom-related terms (movement disorder, dystonia, chorea, choreoathetosis, myoclonus).Involuntary movements occur in the majority of patients with ataxia-telangiectasia and AOA1, and less frequently in patients with AOA2, Friedreich ataxia, and ataxia with vitamin E deficiency. Clinical presentations with an isolated hyperkinetic movement disorder in the absence of ataxia include dystonia or dystonia with myoclonus with predominant upper limb and cervical involvement (ataxia-telangiectasia, ataxia with vitamin E deficiency), and generalized chorea (ataxia with oculomotor apraxia type 1, ataxia-telangiectasia).An awareness of atypical presentations facilitates early and accurate diagnosis in these challenging cases. Recognition of involuntary movements is important not only for diagnosis, but also because of the potential for effective targeted symptomatic treatment.
| S-EPMC4950223 | biostudies-other
Project description:South Asia, encompassing many populous countries including India, Pakistan, and Bangladesh, is home to a wide variety of infectious diseases several of which are disproportionately prevalent, endemic or distinctive to the region. These result in considerable morbidity and mortality, which can be greatly reduced through public-health measures, timely diagnosis and treatment. Some of these infectious diseases have neurological manifestations including movement disorders either due to the pathogen being neuroinvasive or via an immune-mediated response. For diseases such as Japanese encephalitis, movement disorders are the primary manifestation while for others, they can be a presenting feature. Thus, recognizing these movement disorders is often crucial to the diagnosis of the particular infection, and/or to exclude infection as a cause and arrive at the correct alternate diagnosis. Once diagnosed, the infection-related movement disorders are treated by targeting the infectious agent, or symptomatically. In this article, we describe and illustrate a variety of movement disorders that are seen in patients infected by viruses, bacteria and parasites in South Asia. This would be of value to neurologists practicing in the region and, with the increasing ease in movement of people and pathogens, those practicing elsewhere.
| S-EPMC8354078 | biostudies-literature
Project description:BackgroundCranial functional movement disorders (CFMDs) affect the face, eyes, jaw, tongue, and palate.ObjectivesWe aimed to examine our large series of functional movement disorders (FMDs) patients where the cranial muscles were involved to determine their phenomenology and other clinical features.MethodsThis is a chart review of 26 patients who presented with CFMDs.ResultsThere were 16 (61.53%) females and 10 (38.46%) male patients. The mean ± [standard deviation (SD)] age at the presentation was 33.96 ± 16.94 (Range: 11-83) years. The duration of symptoms ranged from one day to 6 years (Mean ±SD: 402.03 ±534.97 days). According to the Fahn-Williams criteria, CFMDs were documented in 24 patients and clinically established in two patients. The facial [38.46% (10/26)] involvement was the most common in our CFMDs patients. Oromandibular [19.23% (5/26)], ocular [15.38% (4/26)], lingual [15.38% (4/26)], speech [15.38% (4/26)] and palatal [(3.85; 1/26)] involvement was also seen. 10 (38.46%) patients also had associated FMD in the extracranial regions. Precipitating factors were present in 84.61% (22/26) of the patients and associated illnesses were present in 42.30% (11/26) of the patients. At 3 months follow-up, 9 (34.61%) patients had improved, 13 (50%) had partial improvement and 4 (15.38%) had no improvement.ConclusionsThere was a slight female preponderance in our patients. CFMDs are more likely to involve facial muscles. Associated medical conditions like neuropsychiatric disturbances and headaches are frequently present in CFMDs patients. Early clinical diagnosis will avoid unnecessary investigations and allow the patient to seek the right treatment.
| S-EPMC7485402 | biostudies-literature
Project description:Movement analysis of infants' body parts is momentous for the early detection of various movement disorders such as cerebral palsy. Most existing techniques are either marker-based or use wearable sensors to analyze the movement disorders. Such techniques work well for adults, however they are not effective for infants as wearing such sensors or markers may cause discomfort to them, affecting their natural movements. This paper presents a method to help the clinicians for the early detection of movement disorders in infants. The proposed method is marker-less and does not use any wearable sensors which makes it ideal for the analysis of body parts movement in infants. The algorithm is based on the deformable part-based model to detect the body parts and track them in the subsequent frames of the video to encode the motion information. The proposed algorithm learns a model using a set of part filters and spatial relations between the body parts. In particular, it forms a mixture of part-filters for each body part to determine its orientation which is used to detect the parts and analyze their movements by tracking them in the temporal direction. The model is represented using a tree-structured graph and the learning process is carried out using the structured support vector machine. The proposed framework will assist the clinicians and the general practitioners in the early detection of infantile movement disorders. The performance evaluation of the proposed method is carried out on a large dataset and the results compared with the existing techniques demonstrate its effectiveness.
| S-EPMC6210538 | biostudies-other
Project description:Considerable interest has arisen concerning the relationship between hereditary connective tissue disorders such as the Ehlers-Danlos syndromes (EDS)/hypermobility spectrum disorders (HSD) and autism, both in terms of their comorbidity as well as co-occurrence within the same families. This paper reviews our current state of knowledge, as well as highlighting unanswered questions concerning this remarkable patient group, which we hope will attract further scientific interest in coming years. In particular, patients themselves are demanding more research into this growing area of interest, although science has been slow to answer that call. Here, we address the overlap between these two spectrum conditions, including neurobehavioral, psychiatric, and neurological commonalities, shared peripheral neuropathies and neuropathologies, and similar autonomic and immune dysregulation. Together, these data highlight the potential relatedness of these two conditions and suggest that EDS/HSD may represent a subtype of autism.
| S-EPMC7711487 | biostudies-literature