DENTATO-RUBRO-PALIDO-LUYSIANA ATROPHY: CASE REPORT AND LITERATURE REVIEW

VÍTOR COLPO PAES, CARINE COLPO PAES, BIANCA RIBEIRO MORAIS

Resumo


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.

Referências


References 1.Bencher MW et al. Dentatorubral and Pallidoluysian Atrophy. Movement Doorders. Movement Disorder Society 1997; 12: 519-30

Lindsay E, and Storey E. Cognitive Changes in the Spinocerebellar Ataxias

Due to Expanded Polyglutamine Tracts: A Survey of the Literature. Brain Sci 2017; 7: 83.

Hannan MA. Dentatorubral Pallidoluysian Atrophy (DRPLA)-A Rare Neurological Disorder. J Bangladesh

Coll Phys Surg 2012; 30: 48-52

Adachi N et al. Dentatorubral-Pallidoluysian

Atrophy (DRPLA) Presenting With Psychosis. The Journal of Neuropsychiatry and Clinical

Neurosciences 2001; 13:258–60

Licht DJ, Lynch DR. Juvenile dentatorubral-pallidoluy-sian atrophy: New clinical features. Pediatr Neurol

; 26:51-54.

Simpson M, Smith A, Kent H, et al. J Neurol Neurosurg Psychiatry; 2012. doi:10.1136/jnnp-2011-301612

Miyazak. MR of Childhood-Onset Dentatorubral-Pallidoluysian Atrophy. AJNR 1995; 16: October 1995

Sunami Y. Radiologic and Neuropathologic Findings in Patients in a Family with Dentatorubral-

Pallidoluysian Atrophy. AJNR Am J Neuroradiol 2011; 32:109 –14.

Hasegawa A et al. Long-Term Disability and Prognosis in Dentatorubral-

Pallidoluysian Atrophy: a Correlation with CAG Repeat Length. Movement Disorders 2010; 25: 1694–700

Shahwan A, Farrell M, Delanty N. Progressive myoclonic epilepsies: a review of genetic and

therapeutic aspects. Lancet Neurol 2005; 4: 239–48.

Egawa Y. Electroclinical features of epilepsy in patients with

juvenile type dentatorubral-pallidoluysian atrophy. Epilepsia 2008; 49(12):2041–2049

Warrenburg BPC et al. EFNS/ENS Consensus on the diagnosis and management

of chronic ataxias in adulthood. European Journal of Neurology 2014, 21: 552–562

Maruyama S. Importance of CAG repeat length in childhood-onset

dentatorubral–pallidoluysian atrophy. J Neurol 2012; 259:2329–334.


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