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]

Two children in one family presented with progressive myoclonic epilepsy syndrome, and two children in the other family presented with ataxochoreo-athetoid symptoms. [hkmj.org]

• Vertical Gaze Palsy

  A 48-year-old man developed progressive hemidystonia and postural impairment with falls, followed by choreoathetosis, hyporeflexia, ataxia, supranuclear vertical gaze palsy, and dementia, lasting only 3.5 years from symptom onset to death. [ncbi.nlm.nih.gov]

• Corneal Edema

  The results of slitlamp examination showed corneal edema and guttae, which are excrescences of the Descemet membrane produced by abnormal endothelial cells. [doi.org]

• Suggestibility

  These findings suggest that glial cells in dentatorubral-pallidoluysian atrophy also are involved in the polyglutamine pathogenesis. [ncbi.nlm.nih.gov]

• Onset at Age <20

  On the other hand, patients with non-PME phenotype showed later ages of onset (onset after age 20) and smaller expansions (54-67 repeats). [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]

• Choreoathetoid Movements

  Three phenotypes are described: choreoathetoid movements, cerebellar ataxia, and progressive myoclonic epilepsy. OBJECTIVE: To evaluate the frequency of DRPLA in European patients with sporadic or autosomal dominant cerebellar ataxia. [ncbi.nlm.nih.gov]

• Hand Tremor

  A "no-no" type head tremor was the initial and the most prominent symptom, and mild cerebellar signs and choreic movements were also observed later. Neither hand tremor nor dystonia was noted. [ncbi.nlm.nih.gov]

• Scanning Speech

  He had dysarthric, scanning speech, slowed vertical and horizontal saccades, and dystonic posturing of his right upper extremity and face at times. There was no choreoathetosis or myoclonus evident. [bmcneurol.biomedcentral.com]

• Photoparoxysmal Response

  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]

• White Matter Lesions

  Abstract Dentatorubral-pallidoluysian atrophy (DRPLA) is an autosomal dominant spinocerebellar ataxia caused by CAG triplet expansion in atrophin 1 and is frequently associated with cerebral white matter lesions. [ncbi.nlm.nih.gov]

  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]

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]

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

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]

However, some people live to 60 years of age or more. [3] A 2010 study found that prognosis is associated with the CAG repeat length. [rarediseases.info.nih.gov]

Prognosis Patients with DRPLA have progressive disease, which means symptoms become worse over time. Resources WEBSITES International Network of Ataxia Friends (INTERNAF).. National Ataxia Foundation.. [encyclopedia.com]

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]

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]

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]

Relevant External Links for ATN1 Genetic Association Database (GAD) ATN1 Human Genome Epidemiology (HuGE) Navigator ATN1 Atlas of Genetics and Cytogenetics in Oncology and Haematology: ATN1 No data available for Genatlas for ATN1 Gene Searching for mutation [genecards.org]

Spinocerebellar degenerations in Japan: a nationwide epidemiological and clinical study. Acta Neurol. Scand. 89 (suppl. 153): 1-22, 1994. Iizuka, R., Hirayama, K., Maehara, K. Dentatorubro-pallidoluysian atrophy: a clinico-pathological study. J. [ncbi.nlm.nih.gov]

The Global Epidemiology of Hereditary Ataxiaand Spastic Paraplegia: A systematic review of prevalence studies. Neuroepidemiology 2014; 24:174-183. Ashizawa T, Figueroa KP, Perlman SL, et al. [rarediseases.org]

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]