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> Disorders > Disease or Syndrome > Dentatorubral-Pallidoluysian Atrophy

Dentatorubral-Pallidoluysian Atrophy

Dentatorubral-Pallidoluysian Atrophy (DRPLA) is a rare, autosomal dominant neurodegenerative disorder characterized by a triad of symptons: ataxia, myoclonic epilepsy, and dementia.
It is caused by an expanded trinucleotide repeat in the DRPLA gene, leading to the accumulation of mutant atrophin-1 protein in the brain.
DRPLA typically presents in adolescence or adulthood and progresses rapidly, often resulting in premature death.
Effective treatment options are limited, making research into optimized study protocols crucial for advancing understanding and potential therapies for this debilitating condition.

Most cited protocols related to «Dentatorubral-Pallidoluysian Atrophy»

The ten diagnostic criteria enumerated in DSM-IV, along with their corresponding NODS items, are displayed in Table 1. The most prevalent criterion, chasing, is reported by about 8% of all survey respondents in the sample surveys used here (see below); the least prevalent, illegal acts, by about 0.5%.
The DSM-IV specifies that meeting 5 or more criteria establishes a diagnosis of pathological gambling. While the DSM-IV has no formal nomenclature for persons below this level, researchers in the field have constructed a variety of descriptors for individuals in the subclinical range, i.e, meeting 1—4 of the criteria. Consistent with most of the prior survey literature (as described in Abbott & Volberg 1999 ; Shaffer et al. 1997; Lesieur & Blume 1987 (link)), and the original report on NODS data (Gerstein et al. 1999 ), we label persons in the upper subclinical range (3 or 4 criteria) “problem gamblers.” Consistent with the naming conventions in public health and numerous gambling studies, we label those meeting 1 or 2 criteria “at-risk gamblers,” and those reporting no criteria, “low-risk” gamblers.
Prior to fielding the NODS, its authors pilot-tested for reliability and validity in a random telephone sample of 45 respondents in the Chicago metropolitan area and a convenience sample of 40 persons recently enrolled in gambling treatment programs in the Midwest. Ninety-five percent of the clinical sample scored five or more points on the lifetime NODS; the remaining two cases scored four points—the clinical cut-point originally recommended by Lesieur and Rosenthal (1998) and confirmed by others (Jimenez-Murcia et al. 2008 ; Lakey et al. 2007 (link)). These results are very similar to those reported by Stinchfield (2003) (link) using a comparable DSM-IV-based instrument. The lifetime NODS therefore appears to have strong validity in identifying clinically confirmed pathological gamblers. The test–retest reliability of the NODS was examined in a half-sample of 44 cases drawn equally from the clinical sample and the general population pilot survey. The lifetime and past-year scores were found to be highly reliable, r=0.99 and 0.98, respectively, by Gerstein et al. (1999) , further confirmed by other investigators (Hodgins 2004 (link); Wickwire et al. 2008 (link)).
Publication 2009
Conferences Dentatorubral-Pallidoluysian Atrophy Diagnosis Hodgkin Disease SERPINA3 protein, human

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Publication 2010
Amygdaloid Body Axon Dentatorubral-Pallidoluysian Atrophy Electroencephalography Forelimb Mus Poaceae Pulses Seizures

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Publication 2019
Age Groups Bronchodilator Agents Child Cough Cyanosis Dentatorubral-Pallidoluysian Atrophy Ethics Committees, Research Haemophilus influenzae type b polysaccharide vaccine Legal Guardians Lethargy Parent Perch Pneumococcal Vaccine Pneumonia Respiratory Rate Seizures Signs and Symptoms, Respiratory Specimen Collection Vaccination Virus Vaccine, Influenza Wall, Chest Wheezing
Figure 1 illustrates the design of the drug trial methodology, which was a modified protocol based on Ko and Kang [25 (link)]. Animals were intraperitoneally (i.p.) given LiCl (127 mg/kg) 24 h before the pilocarpine treatment. Animals were treated with pilocarpine (30 mg/kg, i.p.) 20 min after atropine methylbromide (5 mg/kg i.p.). Two hours after SE on-set, animals were administered diazepam (Valium; Hoffman la Roche, Neuilly sur-Seine, France; 10 mg/kg, i.p.) and dosage was repeated, as needed. Control animals received saline in place of pilocarpine. Animals were video-monitored 8 h a day for general behavior and occurrence of spontaneous seizures by 4 weeks after SE induction. Behavioral seizure severity was evaluated according to Racine’s scale [26 (link)]: 1, immobility, eye closure, twitching of vibrissae, sniffing, facial clonus; 2, head nodding associated with more severe facial clonus; 3, clonus of one forelimb; 4, rearing, often accompanied by bilateral forelimb clonus; and 5, rearing with loss of balance and falling accompanied by generalized clonic seizures. We classified chronic epilepsy rats that showed behavioral seizures with seizure score ≥3 more than once.
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Publication 2021
Animals Clonic Seizures Dentatorubral-Pallidoluysian Atrophy Diazepam Epilepsy Face methylatropine bromide Pilocarpine Rattus norvegicus Saline Solution Seizures Upper Extremity Valium Vibrissae

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Publication 2019
Animals Convulsive Seizures Defecation Dentatorubral-Pallidoluysian Atrophy Forelimb Kyphosis Muscle Rigidity Neck Seizures, Generalized Sialorrhea Tail Tremor Urination

Most recents protocols related to «Dentatorubral-Pallidoluysian Atrophy»

Each FGD and IDI session was facilitated by two members of the research team experienced and trained in qualitative data collection and fluent in both English and local languages (Afrikaans and isiXhosa). The sessions were conducted using a semi-structured interview guide for the IDI and discussion guide for the FGD, both of which were adapted from the WHO’s MOV assessment guides for caregiver FGD and health worker IDI (attached as supplementary files).10 The guides explored participants’ experiences, and perception in relation to immunization, MOV and ways to reduce MOV. Discussions were flexible to allow participants emphasize what they considered as important and to allow further probes into unanticipated topics emerging from participants’ responses. All sessions were recorded using an audio recorder and transcribed verbatim. Local language texts in the transcripts were translated to English by a professional translator. Back-translation from English to the original language was done to ensure accuracy of translation and that meanings are not lost in translation.
To supplement the audio recordings, one of the two facilitators jotted notes, reflections and captured non-verbal gestures such as facial expressions and nods. Each focus group lasted between 45 minutes and an hour, while each IDI session lasted 30–45 minutes. Attempts were made to ensure every participant was given the opportunity to contribute during discussions. All FGD and IDI sessions were held in private rooms at a mutually convenient time for the participants. Consent to participate was re-confirmed at the start of the IDIs. Upon initial coding and thematic analysis of audio recordings to keep track of emergent themes, it was decided that saturation had been reached at the third session of FGD and fourth session of the IDI.
Publication 2023
ARID1A protein, human Conditioning, Psychology Dentatorubral-Pallidoluysian Atrophy Dietary Supplements Reflex Vaccination Workers
Data for this study were collected, both remotely and in-person, by two female researchers, MG and FW, who are both experienced in conducting qualitative research with culturally and ethnically diverse communities. Interviews were conducted between May and July 2021, and hence, at the time of data collection participants had endured three national lockdowns, and those from Leicester had experienced additional regional lockdowns between the second and third national lockdowns. Interested participants gave consent online or on paper, and filled in a short demographic questionnaire, which included information on age, sex, ethnicity, qualification, employment status, job role (if employed), home postcode and country of birth. Participants were invited to take part in a one-to-one interview, which was conducted in English and was either through Microsoft Teams, or over the telephone or in-person. Participants were offered the choice of mode that they would prefer to be interviewed and while the majority of interviews were conducted online, some participants also opted to be interviewed telephonically or face-to-face. Although we did not perceive any major differences in the data collected through the three different modes, in retrospect, the telephonic ones probably took longer to establish the initial rapport as non-verbal cues such as smiles and nods could not be exchanged with participants. Despite this limitation, in all the modes, both the interviewers used vocables such as ‘uh-huh’ or where required probed and offered gentle encouragement to demonstrate their involvement and interest which helped with the flow of the discussions.
The topic guide was designed to explore individuals’ experiences of the pandemic with opportunities to probe in-depth about their economic, social and cultural contexts (see online supplemental file 1). The topic guide was developed from prompts in the literature, and also informed by the research team’s ongoing as well as past engagements with some of these communities. Interviews lasted for 45–60 mins, and participants were given shopping vouchers as a token of appreciation. Interviews were recorded with prior permission and recordings were transcribed by professional transcribers, and transcripts were checked for accuracy by the research team.
Publication 2023
Childbirth Dentatorubral-Pallidoluysian Atrophy Ethnicity Face Females Interviewers Pandemics
Data were recorded on ten guarded plants for earliness, growth habit, cotton yield, and fiber traits i.e., first fruiting nods (FFN), number of fruiting branches per plant (No. FB/P), plant height (PH), seed cotton yield tone/hectar (SCY.t/ha), lint cotton yield tone/ hectar (LCY.t /ha), seed index (SI) in gram, number of open bolls per fruiting branches (No.B/FB), lint index (LI) and number of seeds/boll (No. S/B).
Fiber parameters were recorded in the laboratories of the Cotton Technology Research Division, Cotton Research Institute, Agriculture Research Center, Egypt, in accordance with the standard method of the American Society for Testing Materials Designation (American Society for Testing Materials, 1998) at 21 °C ± 1 °C and 65% ± 2% relative humidity. Micronaire reading (MIC) was used to express fiber fineness. Fiber strength (FS) was measured by using a Pressley instrument at zero gauge (g/tex). Fiber strength is closely related to yarn and fabric strength and spinning efficiency. Fiber length at 2.5% (FL, mm) was estimated as the space in mm spanned by 2.5% of the fibers as recorded on a digital fibro graph. The uniformity ratio (UR%) was calculated in accordance with the following equation: UR%=50%Spanlength2.5%SpanlengthX100
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Publication 2023
Dentatorubral-Pallidoluysian Atrophy Fibromyalgia Fibrosis Gossypium Humidity Plant Embryos Plants
Postmortem lumbar spinal cords from two patients with neuropathologically-proven SOD1 mutated ALS (mean age 52.3 years), five patients with sporadic ALS (mean age 67.4 years), and five age-matched control patients (mean age 67.2 years) were analyzed. Control cases included three patients with other neurodegenerative diseases (one with Parkinson’s disease; one with dentatorubropallidoluysian atrophy, one with spinocerebellar ataxia), and two without neurodegenerative diseases (one with cerebral infarction; one with epilepsy) (Table S1). During the autopsy, spinal cords were removed, and blocks of the lumbar levels of the spinal cords were immediately placed in 10% buffered formalin and embedded in paraffin. No pathological changes were noted in the spinal cords from control patients. For immunohistochemistry, after heat retrieval by autoclaving (10 min at 121°C in 10 mM sodium citrate buffer), 6-μm-thick sections were incubated overnight at 4°C with D3-1 diluted 1:1,000 with PBS containing 3% BSA (PBS-BSA). Bound primary antibodies were detected with a Vectastain Elite ABC kit (Vector Laboratories, Burlingame, CA) with 3,3′-diaminobenzidine tetrahydrochloride used as the chromogen. The staining specificity was confirmed by replacing the primary antibody with the appropriate amount of PBS-BSA. No reaction product deposits were seen in these control-stained sections. Written informed consent was obtained from all individuals or their guardians before the analysis. The protocols for human sample experiments (R1038) were approved by and performed under the guidelines of the Kyoto University Graduate School of Medicine Ethics Committee. Informed consent was obtained from all individuals or their guardians before the analysis.
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Publication 2023
Antibodies Ataxia, Spinocerebellar Autopsy azo rubin S Buffers Cerebral Infarction Cloning Vectors Cone-Rod Dystrophy 2 Dentatorubral-Pallidoluysian Atrophy Epilepsy Ethics Committees Formalin Homo sapiens Immunoglobulins Immunohistochemistry Legal Guardians Lumbar Region MM-121 Neurodegenerative Disorders Paraffin Embedding Parkinson Disease Patients Sodium Citrate Spinal Anesthesia Spinal Cord Vision
From February 2018 to November 2019, we conducted an epidemiological study to determine the prevalence, distribution, and risk factors of NS; a clinical case–control study to determine the etiology and epidemiological risk factors of NS; and a follow-up study to investigate the disease progression and long-term outcome. Here we present data on the characteristics of NS, selected epidemiological risk factors, access to treatment, and perceptions about NS transmission.
Epidemiological data were collected during a large house-to-house survey. Prior to initiating the household survey, community leaders in the area were informed about the aims and procedures of the study and involved in the planning and preparation of the study implementation in their communities. After obtaining informed consent, the main caretaker in a household was interviewed and all 1–18-year-old children in the household were screened for NS using head nodding as major inclusion criterion. If NS cases were identified in a household, questions on living conditions were asked. Every fifth household with an NS case and a control household without an NS case were asked additional questions regarding their individual exposures and behaviors. Household interviews were performed using electronic questionnaires preloaded on a personal digital assistant. The questionnaires were translated into the local language and translated back into English to ensure consistency. The study was conducted by a team of researchers consisting of a medical doctor, a clinical officer, nurses, field workers, and a field coordinator who had been trained prior to the survey. Screening of cases was conducted by the nurses while a clinical officer and/or a medical doctor carried out a detailed medical history and performed a clinical examination for confirmation. All the research team members were from the Greater Mundri area and were fluent in the local languages, including the local Arabic dialect.
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Publication 2023
Child Dentatorubral-Pallidoluysian Atrophy Disease Progression Households MLL protein, human Nurses Physical Examination Physicians Transmission, Communicable Disease Workers

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More about "Dentatorubral-Pallidoluysian Atrophy"

Dentatorubral-pallidoluysian atrophy (DRPLA) is a rare, inherited neurodegenerative disorder characterized by a triad of symptoms: ataxia, myoclonic epilepsy, and dementia.
This condition is caused by an expanded trinucleotide repeat in the DRPLA gene, leading to the accumulation of the mutant atrophin-1 protein in the brain.
DRPLA typically presents in adolescence or adulthood and progresses rapidly, often resulting in premature death.
Effective treatment options for DRPLA are limited, making research into optimized study protocols crucial for advancing understanding and potential therapies.
Researchers can utilize various tools and techniques to study DRPLA, such as Pilocarpine, Methylscopolamine, LiCl, Pilocarpine hydrochloride, and Diazepam (Valium) for pharmacological interventions, as well as FBS, LabChart software, P6500, and CFlow Sampler software for data analysis and visualization.
By leveraging the power of AI-driven platforms like PubCompare.ai, researchers can easily locate and compare relevant protocols from literature, pre-prints, and patents, ensuring they find the best approach to enhance reproducibility and advance their DRPLA studies.
This can help optimize research protocols and accelerate the development of potential therapies for this debilitating condition.
Other related terms and abbreviations to consider for DRPLA research include 'dentatorubral-pallidoluysian atrophy,' 'DRPLA,' 'trinucleotide repeat disorder,' 'atrophin-1,' and 'Minimal Essential Media Eagle (MEM).' By incorporating these terms and related information, researchers can improve the discoverability and relevance of their DRPLA-related content, ultimately contributing to the advancement of this field of study.