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Newly observed thalamic involvement and mutations of the HEXA gene in a Korean patient with juvenile GM2 gangliosidosis.

 Soon Min Lee  ;  Min Jung Lee  ;  Joon Soo Lee  ;  Heung Dong Kim  ;  Jin Sung Lee  ;  Jinna Kim  ;  Seung Koo Lee  ;  Young Mock Lee 
 METABOLIC BRAIN DISEASE, Vol.23(3) : 235-242, 2008 
Journal Title
Issue Date
Ataxia/etiology ; Brain/growth & development ; Brain/pathology ; Child, Preschool ; DNA/genetics ; Exons/genetics ; Female ; Fluorodeoxyglucose F18 ; Gangliosidoses, GM2/diagnostic imaging ; Gangliosidoses, GM2/genetics* ; Gangliosidoses, GM2/pathology* ; Humans ; Korea ; Magnetic Resonance Imaging ; Muscle Hypotonia/etiology ; Mutation/physiology* ; Positron-Emission Tomography ; Radiopharmaceuticals ; Thalamus/diagnostic imaging ; Thalamus/pathology* ; beta-Hexosaminidase alpha Chain/genetics*
JuvenileGM2 gangliosidosis ; HEXA gene ; Thalamus ; Neuroimaging
Neuroimaging studies of patients with GM2 gangliosidosis are rare. The thalamus and basal ganglia are principally involved in patients affected by the infantile form of GM2 gangliosidosis. Unlike in the infantile form, in juvenile or adult type GM2 gangliosidosis, progressive cortical and cerebellar atrophy is the main abnormality seen on conventional magnetic resonance imaging (MRI); no basal ganglial or thalamic impairment were observed. This report is of a Korean girl with subacute onset, severe deficiency of hexosaminidase A activity and mutations (Arg137Term, Ala246Thr) of the HEXA gene. A 3.5-year-old girl who was previously in good health was evaluated for hypotonia and ataxia 3 months ago and showed progressive developmental deterioration, including cognitive decline. Serial brain MRI showed progressive overall volume decrease of the entire brain and thalamic atrophy. Fluorine-18 FDG PET scan showed severe decreased uptake in bilateral thalamus and diffuse cerebral cortex. We suggest, through our experience, that the thalamic involvement in MR imaging and FDG-PET can be observed in the juvenile form of GM2 gangliosidosis, and we suspect the association of mutations in the HEXA gene.
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1. College of Medicine (의과대학) > Dept. of Radiology (영상의학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Pediatrics (소아청소년과학교실) > 1. Journal Papers
Yonsei Authors
Kim, Jinna(김진아) ORCID logo https://orcid.org/0000-0002-9978-4356
Kim, Heung Dong(김흥동) ORCID logo https://orcid.org/0000-0002-8031-7336
Lee, Soon Min(이순민) ORCID logo https://orcid.org/0000-0003-0174-1065
Lee, Seung Koo(이승구) ORCID logo https://orcid.org/0000-0001-5646-4072
Lee, Young Mock(이영목) ORCID logo https://orcid.org/0000-0002-5838-249X
Lee, Joon Soo(이준수) ORCID logo https://orcid.org/0000-0001-9036-9343
Lee, Jin Sung(이진성) ORCID logo https://orcid.org/0000-0002-1262-8597
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