https://scholars.lib.ntu.edu.tw/handle/123456789/519992
標題: | Novel Phenotype of 6p25 Deletion Syndrome Presenting Juvenile Parkinsonism and Brain Calcification | 作者: | Fan S.-P. NI-CHUNG LEE CHIN-HSIEN LIN |
公開日期: | 2020 | 出版社: | John Wiley and Sons Inc. | 卷: | 35 | 期: | 8 | 起(迄)頁: | 1457-1462 | 來源出版物: | Movement Disorders | 摘要: | Background: Chromosome 6p25 deletion syndrome is a rare neurocristopathy with variable clinical features. The objective of the current study was to describe a novel phenotype for autosomal-dominant chromosome 6p25 deletion syndrome. The presentation included bilateral basal ganglia and subcortical calcifications and juvenile parkinsonism, resembling primary familial brain calcification. Methods: Phenotypic characterization, exome sequencing, and oligonucleotide array were carried out in the index family. Results: The index patient and her mother had a history of developmental delay, mild facial dysmorphism, Axenfield eye anomalies, slight intellectual disability, and subsequently developed levodopa-responsive parkinsonism in early adulthood. Brain-computed tomography showed bilateral basal ganglia and subcortical calcifications. Magnetic resonance imaging revealed diffuse white matter lesions. A 99mTcTRODAT single-photon emission computed tomography scan revealed bilateral dopaminergic denervation. Whole-exome sequencing and oligonucleotide array-based comparative genomic hybridization revealed a 2.27-Mb chromosome 6pter-p24 deletion, which cosegregated within the family. Conclusions: Our findings extended the current phenotypic spectrum of chromosome 6p25 deletion syndrome. ? 2020 International Parkinson and Movement Disorder Society. ? 2020 International Parkinson and Movement Disorder Society |
URI: | https://www.scopus.com/inward/record.uri?eid=2-s2.0-85085123951&doi=10.1002%2fmds.28079&partnerID=40&md5=5412f264d4368811906042041c62fae5 https://scholars.lib.ntu.edu.tw/handle/123456789/519992 |
ISSN: | 0885-3185 | DOI: | 10.1002/mds.28079 | SDG/關鍵字: | interferon regulatory factor 4; levodopa; mitochondrial DNA; ropinirole; transcription factor FOXC1; [2 [[2 [[[3 (4 chlorophenyl) 8 methyl 8 azabicyclo[3.2.1]oct 2 yl]methyl](2 mercaptoethyl)amino]ethyl]amino]ethanethiolato]oxotechnetium tc 99m; adult; Article; audiometry; autosomal dominant disorder; basal ganglion; bilateral hearing loss; bone malformation; bradykinesia; brain calcification; brain tomography; case report; chromosome 6p; chromosome 6p25 deletion syndrome; chromosome deletion; clinical article; cognitive defect; comparative genomic hybridization; computer assisted tomography; data analysis software; developmental delay; DNA microarray; dusp22 gene; exoc2 gene; eye malformation; face malformation; female; foxf2 gene; foxq1 gene; gene; gene deletion; gmds gene; human; hus1b gene; intellectual impairment; medical history; middle aged; neuroimaging; nuclear magnetic resonance imaging; parkinsonism; pathogenesis; perception deafness; phenotype; priority journal; single photon emission computed tomography; subcortex; Unified Parkinson Disease Rating Scale; white matter lesion; whole exome sequencing; young adult; brain; chromosome deletion; diagnostic imaging; genetics; parkinsonism; Adult; Brain; Chromosome Deletion; Comparative Genomic Hybridization; Female; Humans; Parkinsonian Disorders; Phenotype |
顯示於: | 醫學系 |
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