The Case Report on Dentatorubral-Pallidoluysian Atrophy / 罕见病研究

Dentatorubral-pallidoluysian atrophy (DRPLA) is an autosomal dominant neurodegenera-tive disease rarely reported in China. Its symptoms include: cerebellar ataxia, epilepsy, dementia, myoclonus and choreoathetosis. We reported one case of adult-onset DRPLA family in the article. The female proband developed ataxia at the age of 45, followed by cognitive impairment and possible seizure. Five people in her family had similar symptoms. In addition, cranial MRI showed atrophy of the brainstem and cerebellar, as well as diffuse white matter lesions. Analysis of the ATN1 gene showed CAG repeat sizes to be 14/54 in the proband. Besides, we reviewed relevant literature published in recent years to improve the understanding of the disease, including its clinical manifestations, genetic characteristics, diagnosis and treatments.

Clinical features, electroneurophysiology, neuroimaging and gene analysis of one juvenile dentatorubral-pallidoluysian atrophy pedigree / 中华神经科杂志

Objective To explore the clinical features,electroneurophysiology,neuroimaging and gene characteristics of one juvenile dentatorubral-pallidoluysian atrophy (DRPLA) pedigree with an onset of epilepsy.Methods The clinical data of the elder sister and younger brother in a family with juvenile DRPLA were collected.Furthermore,their clinical manifestations,electroneurophysiology results,neuroimaging characteristics and atrophin-1 gene CAG repeat numbers were detected and analyzed in detail.Results There were four patients in this family in total.The probands were two siblings,and they both had the onset manifestation of epilepsy.The younger brother had frequently epileptic seizure,marked cerebellar ataxia,involuntary movement and mental retardation.Compared with her younger brother,the sister had light symptoms such as mild memory deterioration without ataxia and involuntary movement,and she could undertake some simple work.The spike wave and sharp wave complex can be detected in electroencephalogram (EEG) examination,the cortical center segment lesions pathological changes were revealed in somatosensory evoked potentials (EP),and the latency period of P300 was prolonged in the both siblings.Magnetic resonance imaging (MRI) showed that the younger brother had marked atrophies in the cerebral cortex,brainstem and cerebellum.Furthermore,MRI showed that the elder sister had only mild atrophies in the cerebral cortex,brainstem and cerebellum,and that on the contrary some abnormally high signals were observed in cerebral cortex but not white matter.DRPLA gene detection revealed that the numbers of CAG repeats were 15/68 (the younger brother) and 15/64 (the elder sister),respectively.Conclusions Epilepsy,especially the myoclonus,is a common clinical manifestation for juvenile DRPLA,and many other types of epileptic seizures may arise with the development of DRPLA.DRPLA has diverse clinical heterogeneity.EEG,EP and brain MRI examination are great for DRPLA diagnosis and differential diagnosis,and the specific gene detection can be helpful for a definitive diagnosis.