Genetics and clinical study of Chinese kindreds with dentatorubral pallidoluysian atrophy / 中华医学遗传学杂志
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; (6): 31-35, 2013.
Article
ي Zh
| WPRIM
| ID: wpr-232211
المكتبة المسؤولة:
WPRO
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>
النص الكامل:
1
الفهرس:
WPRIM
الموضوع الرئيسي:
Pathology
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Pedigree
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Phenotype
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Brain
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Magnetic Resonance Imaging
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China
/
Trinucleotide Repeats
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Myoclonic Epilepsies, Progressive
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Asian People
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Diagnosis
نوع الدراسة:
Diagnostic_studies
/
Prognostic_studies
المحددات:
Adolescent
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Adult
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Aged
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Child
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Child, preschool
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Female
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Humans
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Male
البلد/الأقليم حسب الموضوع:
Asia
اللغة:
Zh
مجلة:
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
السنة:
2013
نوع:
Article