title: [Clinical and genetic characteristics of patients with dentatorubro-pallidoluysian atrophy].
abstract: OBJECTIVE
  To explore the clinical and genetic characteristics of patients with dentatorubro-pallidoluysian atrophy (DRPLA).
  
  
  METHODS
  DNA analysis for DRPLA gene was performed in two patients. Clinical features and genetic testing of Chinese DRPLA patients reported in the literature were reviewed in terms of initial symptoms, CAG repeat and age of onset.
  
  
  RESULTS
  Both families were confirmed by genetic analysis. In family 1, the number of CAG repeat in the proband, his brother and his mother was determined respectively as 8/65, 8/53 and 8/18. In family 2, the number of CAG repeat was respectively 13/63, 13/18, 18/52 and 13/13 in the proband, his brother, his father and his mother. The size of the expanded CAG repeats has inversely correlated with the age at onset (P<0.05, r=- 0.555). The age at onset of epilepsy was 10 and that for the onset of ataxia is forty years in initial symptom.
  
  
  CONCLUSIONS
  The clinical characteristics of DRPLA include epilepsy, ataxia and cognitive impairment. The initial symptoms are epilepsy in adolescence and ataxia in adults. The size of expanded CAG repeats inversely correlates with the age at onset. The initial symptoms are different with different age of onset. It is difficult to diagnose DRPLA at an early stage.
authors: Epilepsy Center, Guangdong 999 Brain Hospital, Guangzhou, Guangdong 510510, China. Email: lihual051@163.com.
authors: Hua
authors: H
authors: Li
authors: Xiangshu
authors: X
authors: Hu
authors: Lingxia
authors: L
authors: Fei
authors: Peiqi
authors: P
authors: Zhang
authors: Xinhao
authors: X
authors: Chen
authors: Mei
authors: M
authors: Ouyang
authors: Wei
authors: W
authors: Zhang
authors: Xingzhou
authors: X
authors: Liu
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D001284:Atrophy / Q000235:genetics; D001480:Basal Ganglia Diseases / Q000175:diagnosis / Q000235:genetics; D004252:DNA Mutational Analysis; D018891:Dentate Gyrus / Q000473:pathology*; D005192:Family Health; D005260:Female; D005917:Globus Pallidus / Q000473:pathology*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009419:Nerve Tissue Proteins / Q000235:genetics*; D010375:Pedigree; D019680:Trinucleotide Repeat Expansion / Q000235:genetics*; D055815:Young Adult
chemical_list: D009419:Nerve Tissue Proteins; C095278:atrophin-1