Clinical and genetic characteristics of patients with dentatorubro-pallidoluysian atrophy.
- Author:
Hua LI
1
;
Xiangshu HU
;
Lingxia FEI
;
Peiqi ZHANG
;
Xinhao CHEN
;
Mei OUYANG
;
Wei ZHANG
;
Xingzhou LIU
Author Information
- Publication Type:Case Reports
- MeSH: Adolescent; Adult; Aged; Atrophy; genetics; Basal Ganglia Diseases; diagnosis; genetics; DNA Mutational Analysis; Dentate Gyrus; pathology; Family Health; Female; Globus Pallidus; pathology; Humans; Male; Middle Aged; Nerve Tissue Proteins; genetics; Pedigree; Trinucleotide Repeat Expansion; genetics; Young Adult
- From: Chinese Journal of Medical Genetics 2016;33(5):610-614
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo explore the clinical and genetic characteristics of patients with dentatorubro-pallidoluysian atrophy (DRPLA).
METHODSDNA 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.
RESULTSBoth 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.
CONCLUSIONThe 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.
