Introduction: Dentato-rubro-palido-luysiana atrophy (DRPLA) is an rare autosomal neurodegenerative disease, which presents clinnically with ataxia, choreoathetosis, myoclonus, epilepsy, psychiatric symptoms and dementia. It cause is due to the unstable expansion of CAG trinucleotides located in the 12p13.31 region belonging to the ATN1 gene, which encodes the atrophin-1 protein. We report a case of ADRPL diagnosed in the city of Dourados-MS. Case report: Female patient, 21 years old, Japanese offspring, with history of epileptic seizures refractory started at 8 years of age, evolving with neuropsychomotor deterioration. At the examination, it presented infantilized behavior, axial and appendicular ataxia, myoclonus, dysphonia and dysphagia. The patient's father was abed, with dementia, and a history of epileptic seizures and ataxia initiated at 49 years of age. Magnetic resonance imaging of encephalic showed diffuse brain atrophy, including midbrain atrophy. The video-electroencephalogram revealed activity of slow/drowsy base, with interictal record of common slow-wave and slow-wave polyponetic-wave complexes, and ictal two focal seizures with secondary generalization, one with a possible right frontal onset and another with bifrontal onset, in addition to countless subtle myoclonic seizures, with ictal activity widespread. The molecular study for ADRPL revealed alleles with 13 and 64 CAG repeats. Discussion: DRPLA affects predominantly Japanese individuals, with a prevalence of 2-7 / 1,000,000. There is no predominance between sexe and clinical presentations are divided into juvenile and adult forms. The first one usually affects patients under 20 years old, being characterized by cortical myoclonies and other types of epileptic seizures, cerebellar ataxia, behavioral alterations and progressive cognitive deterioration. In the adult form, a relatively less severe phenotype of ataxia, choreoathetosis and dementia predominates. The ADRPL (ATN1) gene is located on the short arm of chromosome 12. The diagnosis is made based on the family history and the characteristic clinical manifestations, and confirmed by the presence of an allele containing 36 to 90 CAG repeats. Studies have shown a significant relation between the increase in the number of replicates and the age of onset of symptoms, but there is uncertainty about the relation between allele size and the rate at which the disease progresses.The ADRPL (ATN1) gene is located on the short arm of chromosome 12. The diagnosis is made based on family history and clinical features, and confirmed by presence of an allele containing 36 to 90 CAG repeats. The neuroradiological findings are atrophy at the level of the cerebellum and brainstem. There is no cure or specific treatment for ADRPL, and clinical and palliative.


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