Study on the characteristics of juvenile and early adult dentatorubral-pallidoluysian atrophy
Objective To investigate the clinical,imaging and genetic characteristics of dentatorubral-pallidoluysian atrophy in juvenile and early-onset adult families.Methods The clinical,imaging,electroencephalograph(EEG),and genetic data of 1 adolescent and 1 early-onset adult DRPLA patients were analyzed.Results Juvenile type:proband female,15 years old,5-year course of disease,the first symptom was walking instability,gradually appeared cognitive function decline,epilepsy(General tonoclonus,myoclonus).Peripheral blood DNA of the probandexamination showed that CAG repeated 63 times in ATN-1 gene.Brain stem and cerebellum atrophy was observed on magnetic resonance imaging(MRI).Three years after onset,rhythmic distribution of episode EEG slow waves was observed,and severe rhythm disorders occurred five years after the EEG of onset.The grandfather and three great-aunts of the proband all showed symptoms of walking instability in their 50s.Early onset adult type:proband female,26 years old,2-year course of disease,the first symptom was epilepsy,gradually appeared cognitive function decline,myoclonic,and ataxia.The results of peripheral blood DNA examination showed that the CAG allele of ATN-1 gene was repeated 59 times.Brain MRI showed brain stem,cerebellar and hippocampal atrophy.Abnormal head discharge occurred after 1.5 years of onset of episode EEG presentation,and frequent abnormal head discharge occurred after 2.5 years of onset.The proband's grandmother showed symptoms of walking instability and memory loss at the age of 60.The proband's aunt developed limb shaking symptoms at the age of 35,walking instability in her 50s,and cognitive decline at the age of 58.The father and daughter of the proband had no clinical manifestations,and the results of peripheral blood DNA examination showed that the CAG repeats of ATN-1 gene were 53 and 60 times,respectively.They are carriers of the disease-causing gene.Conclusions The clinical manifestations of DRPLA are heterogeneous,and the clinical features and age of onset are related to the number of CAG repeats.Abnormal amplification of CAG repeats of ATN-1 gene ≥48 times can confirm the diagnosis of DRPLA disease.If possible,genetic testing should be performed as soon as possible.If specific CAG repeats can be found,the diagnosis of DRPLA can be defined and missed diagnosis can be avoided.
万方数据
维普
