Dentatorubral Pallidoluysian Atrophy (DRPLA)-A Rare Neurological Disorder
نویسندگان
چکیده
منابع مشابه
Efficacy of perampanel for controlling seizures and improving neurological dysfunction in a patient with dentatorubral-pallidoluysian atrophy (DRPLA)
We administered perampanel (PER) to a bedridden 13-year-old male patient with dentatorubral-pallidoluysian atrophy (DRPLA). The DRPLA diagnosis was based on the presence of a CAG trinucleotide repeat in the ATN1 gene. The patient experienced continuous myoclonic seizures and weekly generalized tonic-clonic seizures (GTCs). PER stopped the patient's myoclonic seizures and reduced the GTCs to fra...
متن کاملCorneal endothelial degeneration in dentatorubral-pallidoluysian atrophy.
BACKGROUND 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. We described 2 unrelated patients with DRPLA accompanied by corneal endothelial degeneration. PATIENTS AND METHODS A 52-year-old man presente...
متن کاملDentatorubral pallidoluysian atrophy in a Turkish family.
Dentatorubral pallidoluysian atrophy is a neurodegenerative disease that generally presents in adulthood. Although rare, it can be observed in childhood due to extreme expansion of the triplet repeat size during spermatogenesis. The diagnosis in childhood is very difficult in the absence of family history. Here we describe a 12-year-old girl with dentatorubral pallidoluysian atrophy who present...
متن کاملAberrant phosphorylation of dentatorubral-pallidoluysian atrophy (DRPLA) protein complex in brain tissue.
Dentatorubral-pallidoluysian atrophy (DRPLA) is caused by DRPLA protein which carries expansion of a glutamine repeat. Abnormal high-molecular-mass complex formation by DRPLA protein and its pathological ubiquitination comprise the disease processes in the brains of patients with DRPLA. In this study, DRPLA protein complex was isolated and shown to have pathologically stronger bond formation wi...
متن کاملMR of childhood-onset dentatorubral-pallidoluysian atrophy.
MR findings in a 14-year-old boy with progressive myoclonic epilepsy, who was diagnosed as having dentatorubral-pallidoluysian atrophy by DNA analysis, were compared with those of his father, who had adult-onset dentatorubral-pallidoluysian atrophy. Besides showing severe brain atrophy, especially of the brain stem tegmentum and cerebellum, MR showed diffuse periventricular hyperintensity on T2...
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ژورنال
عنوان ژورنال: Journal of Bangladesh College of Physicians and Surgeons
سال: 2012
ISSN: 1015-0870
DOI: 10.3329/jbcps.v30i1.11367