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, HeungDong Kim, Jin Sung Lee, Jinna Kim, Seung Koo Lee, Young Mock Lee

Research output: Contribution to journalArticle

5 Citations (Scopus)

Abstract

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.

Original languageEnglish
Pages (from-to)235-242
Number of pages8
JournalMetabolic Brain Disease
Volume23
Issue number3
DOIs
Publication statusPublished - 2008 Sep 1

Fingerprint

GM2 Gangliosidosis
Genes
Magnetic resonance
Imaging techniques
Mutation
Brain
Hexosaminidase A
Thalamus
Neuroimaging
Atrophy
Fluorine
Magnetic Resonance Imaging
Tay-Sachs Disease
Muscle Hypotonia
Deterioration
Ataxia
Basal Ganglia
Health
Positron-Emission Tomography
Cerebral Cortex

All Science Journal Classification (ASJC) codes

  • Biochemistry
  • Clinical Neurology
  • Cellular and Molecular Neuroscience

Cite this

Lee, Soon Min ; Lee, Min Jung ; Lee, Joon Soo ; Kim, HeungDong ; Lee, Jin Sung ; Kim, Jinna ; Lee, Seung Koo ; Lee, Young Mock. / Newly observed thalamic involvement and mutations of the HEXA gene in a Korean patient with juvenile GM2 gangliosidosis. In: Metabolic Brain Disease. 2008 ; Vol. 23, No. 3. pp. 235-242.
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Newly observed thalamic involvement and mutations of the HEXA gene in a Korean patient with juvenile GM2 gangliosidosis. / Lee, Soon Min; Lee, Min Jung; Lee, Joon Soo; Kim, HeungDong; Lee, Jin Sung; Kim, Jinna; Lee, Seung Koo; Lee, Young Mock.

In: Metabolic Brain Disease, Vol. 23, No. 3, 01.09.2008, p. 235-242.

Research output: Contribution to journalArticle

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