Both cases of juvenile-onset disease presented with autistic features and seizures. Interestingly, cranial magnetic resonance imaging performed on the more affected child revealed only mild cerebellar atrophy. [ncbi.nlm.nih.gov]

Adult onset DRPLA (after 20) presents with ataxia, choreoathetosis, dementia, and psychiatric disturbances. [medigoo.com]

• Pallor

  Some patients with DRPLA have white matter lesions characterized neuropathologically by diffuse myelin pallor. The number of lesions correlates with increasing age, being milder in degree in juveniles and more severe in older adults. [flybase.org]

• Muscular Atrophy

  The CAG trinucleotide repeats in mRNAs for the responsible genes of Machado-Joseph disease (MJD), dentatorubral-pallidoluysian atrophy (DRPLA), and X-linked spinal and bulbal muscular atrophy (SBMA) were examined in various neural and nonneural tissues [ncbi.nlm.nih.gov]

  Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy. Nature 352, 77–79 (1991). 15 The Huntington's Disease Collaborative Research Group. [doi.org]

  Samples in periodicals archive: 1) There are currently 9 known polyQ diseases: Huntington disease (HD), dentatorubral-pallidoluysian atrophy (DRPLA), spinal bulbar muscular atrophy (SBMA) and 6 spinocerebellar ataxias (SCA 1, 2, 3, 6, 7 and 17). [acronymfinder.com]

  atrophy and related syndromes G12.0 Infantile spinal muscular atrophy, type I [Werdnig-Hoffman] G12.1 Other inherited spinal muscular atrophy G12.2 Motor neuron disease G12.21 Amyotrophic lateral sclerosis G12.22 Progressive bulbar palsy G12.23 Primary [icd10data.com]

• Chorea

  From Wikidata Jump to navigation Jump to search congenital disorder of nervous system DRPLA Haw River Syndrome Naito-Oyanagi disease NOD Ataxia, Chorea, Seizures, and Dementia Dentatorubral pallidoluysian atrophy Myoclonic Epilepsy With Choreoathetosis [wikidata.org]

  and “senile chorea. [books.google.de]

  In both familial and sporadic cases, molecular testing for DRPLA could be restricted to patients with ataxia with one of the following features: chorea, dementia, or myoclonic epilepsy. [ncbi.nlm.nih.gov]

• Neurologic Manifestation

  Dentatorubral-pallidoluysian atrophy (DRPLA) is an autosomal dominant spinocerebellar degeneration that exhibits a variety of neurologic manifestations. However, only a few reports have studied disturbances outside the central nervous system. [ncbi.nlm.nih.gov]

  Background Dentatorubral-pallidoluysian atrophy (DRPLA) is an autosomal dominant spinocerebellar degeneration that exhibits a variety of neurologic manifestations. [doi.org]

Treatment: There is currently no known cure for Dentatorubral-pallidoluysian atrophy; treatment is supportive. Epilepsy is treated with anti-seizure medication and psychiatric disturbances with psychotropic medications. [medigoo.com]

Neurodegeneration and neuroinflammation are two major and important neurologic disorders, in which satisfactory neuroprotective and neurorestorative treatment is not available yet. [books.google.de]

There is no cure for DRPLA; however there may be ways in which the signs and symptoms can be managed including: [2] [3] Treatment of seizures with anti-epileptic drugs Treatment of psychiatric problems with appropriate psychotropic medications Adaptation [rarediseases.info.nih.gov]

Treatment and prognosis Treatment focuses on symptom control. Death generally occurs 8 years following symptom onset, at a mean age of 49 years 6. References Promoted articles (advertising) [radiopaedia.org]

Hueng-Chuen Fan, Li-Ing Ho, Ching-Shiang Chi, Shyi-Jou Chen, Giia-Sheun Peng, Tzu-Min Chan, Shinn-Zong Lin and Horng-Jyh Harn, Polyglutamine (PolyQ) Diseases: Genetics to Treatments, Cell Transplantation, 23, 4-5, (441), (2014). [doi.org]

We here retrospectively investigated the factors that determine the disease milestones and prognosis in 183 Japanese patients genetically diagnosed with DRPLA. [ncbi.nlm.nih.gov]

Prognosis Prognosis is poor. DRPLA progresses rather rapidly. The mean disease duration is about 13 years. Recurrent seizures and dysphagia with frequent fluid and food aspiration lead to bronchopneumonia and subsequent death. [orpha.net]

Treatment and prognosis Treatment focuses on symptom control. Death generally occurs 8 years following symptom onset, at a mean age of 49 years 6. References Promoted articles (advertising) [radiopaedia.org]

Gov't MeSH terms Adolescent Adult Age of Onset Antigens, CD Antigens, Differentiation, Myelomonocytic Child Female Follow-Up Studies Gastrointestinal Tract/metabolism Gastrointestinal Tract/physiopathology Humans Hypoalbuminemia/etiology* Hypoalbuminemia [ncbi.nlm.nih.gov]

She divided those with a known etiology (eg, abetalipoproteinemia, ataxia telangiectasia) from those whose etiology was unknown (eg, Friedreich ataxia, Ramsay Hunt syndrome, cerebellar ataxia with retinal degeneration). [medlink.com]

Etiology Unstable expansion of CAG repeats in the ATN1 gene (12p13.31) has been demonstrated. Prognosis Prognosis is poor. DRPLA progresses rather rapidly. The mean disease duration is about 13 years. [orpha.net]

Etiology Dentatorubral–pallidoluysian atrophy occurs when there are 47 to 93 CAG repeat expansions within one allele of the atrophin 1 (ATN1) gene on chromosome 12p 6,7. [radiopaedia.org]

Summary Epidemiology Worldwide prevalence is unknown. However, the disease is found most commonly in Japan where the prevalence is estimated to be 1/208,000. Clinical description Age of onset ranges from 1 to 60 years (mean age = 28.8 years). [orpha.net]

Spinocerebellar ataxias in Venezuela: genetic epidemiology and their most likely ethnic descent. [ncbi.nlm.nih.gov]

In order to reveal the pathophysiology of photoparoxysmal responses (PPRs) in photosensitive patients with hereditary dentatorubral-pallidoluysian atrophy (DRPLA) who had expansion of the CAG repeat in the DRPLA gene, we studied the characteristics of [ncbi.nlm.nih.gov]

The CAG-polyglutamine repeat diseases: a clinical, molecular, genetic, and pathophysiologic nosology Stoyas CA, La Spada AR Handbook of clinical neurology, 2018, 147, p 143 Cajal bodies in neurons Lafarga M, Tapia O, Romero AM, et al. [myobase.org]

Highly Cited 2007 Highly Cited 2007 The Conserved microRNA MiR-8 Tunes Atrophin Levels to Prevent Neurodegeneration in Drosophila Janina S. [semanticscholar.org]

See also OMIM:125370 Mutagenesis Feature key Position(s) Description Actions Graphical view Length Mutagenesis i 109 D → N: Prevents cleavage and suppresses apoptosis. 1 Mutagenesis i 739 S → A: Abolishes phosphorylation. 1 Keywords - Disease i Epilepsy [uniprot.org]

Nuclear receptor TLX prevents retinal dystrophy and recruits the corepressor atrophin1. Genes Dev. 2006;20:1308–20. PubMed Central PubMed View Article Google Scholar Lee WY, Jin DK, Oh MR, Lee JE, Song SM, Lee EA, et al. [bmcneurol.biomedcentral.com]

Paul S (2007) Polyglutamine-mediated neurodegeneration: use of chaperones as prevention strategy. Biochemistry (Mosc) 72:359–366 CrossRef Google Scholar 61. [doi.org]