Genetics and clinical study of Chinese kindreds with dentatorubral pallidoluysian atrophy / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 31-35, 2013.
Article
in Chinese
| WPRIM
| ID: wpr-232211
ABSTRACT
<p><b>OBJECTIVE</b>To investigate genetics and clinical characteristics of dentatorubral-pallidoluysian atrophy (DRPLA) in Chinese kindreds.</p><p><b>METHODS</b>Fragment analysis with laser-induced fluorescence in capillary electrophoresis was performed for the cytosine-adenine-guanine (CAG) repeats of DRPLA gene in 708 probands of autosomal dominant ataxia pedigrees and 119 sporadic ataxia cases.</p><p><b>RESULTS</b>Expanded CAG repeats of DRPLA gene were detected in probands of three ataxia pedigrees, with the numbers of repeats being 16/58, 16/58 and 14/54, respectively. In addition to ataxia, patients with adult-onset disease also exhibited spasm and neck torsion.</p><p><b>CONCLUSION</b>Only three cases of DRPLA have been identified among 827 cases, which suggested that DRPLA is a relatively rare subtype of SCA in Chinese population. Clinical variation among the patients suggested DRPLA has a wide spectrum of phenotype.</p>
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Pathology
/
Pedigree
/
Phenotype
/
Brain
/
Magnetic Resonance Imaging
/
China
/
Trinucleotide Repeats
/
Myoclonic Epilepsies, Progressive
/
Asian People
/
Diagnosis
Type of study:
Diagnostic study
/
Prognostic study
Limits:
Adolescent
/
Adult
/
Aged
/
Child
/
Child, preschool
/
Female
/
Humans
/
Male
Country/Region as subject:
Asia
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2013
Type:
Article
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