Late onset GM2 gangliosidosis mimicking spinal muscular atrophy
A case of late onset GM2 gangliosidodis with spinal muscular atrophy phenotype followed by cerebellar and extrapyramidal symptoms is presented. Genetic analysis revealed compound heterozygous mutation in exon 10 of the HEXA gene. Patient has normal intelligence and emotional reactivity. Neuroimaging...
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| Veröffentlicht in: | Gene 2013-09, Vol.527 (2), p.679-682 |
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| container_title | Gene |
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| creator | Jamrozik, Z. Ługowska, A. Gołębiowski, M. Królicki, L. Mączewska, J. Kuźma-Kozakiewicz, M. |
| description | A case of late onset GM2 gangliosidodis with spinal muscular atrophy phenotype followed by cerebellar and extrapyramidal symptoms is presented. Genetic analysis revealed compound heterozygous mutation in exon 10 of the HEXA gene. Patient has normal intelligence and emotional reactivity. Neuroimaging tests of the brain showed only cerebellar atrophy consistent with MR spectroscopy (MRS) abnormalities. (18)F-fluorodeoxyglucose positron emission tomography (18)F-FDG PET/CT of the brain revealed glucose hypometabolism in cerebellum and in temporal and occipital lobes bilaterally.
•Late onset GM2 with spinal SMA phenotype followed by cerebellar symptoms and dystonia.•Compound heterozygous mutation in exon 10 of the HEXA gene.•MRI of the brain showed cerebellar atrophy consistent with MRS abnormalities.•FDG PET/CT showed hypometabolism in cerebellum and in temporal and occipital cortex. |
| doi_str_mv | 10.1016/j.gene.2013.06.030 |
| format | Article |
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•Late onset GM2 with spinal SMA phenotype followed by cerebellar symptoms and dystonia.•Compound heterozygous mutation in exon 10 of the HEXA gene.•MRI of the brain showed cerebellar atrophy consistent with MRS abnormalities.•FDG PET/CT showed hypometabolism in cerebellum and in temporal and occipital cortex.</description><identifier>ISSN: 0378-1119</identifier><identifier>EISSN: 1879-0038</identifier><identifier>DOI: 10.1016/j.gene.2013.06.030</identifier><identifier>PMID: 23820084</identifier><language>eng</language><publisher>Netherlands: Elsevier B.V</publisher><subject>Adult ; cerebellum ; Diagnosis, Differential ; exons ; Gangliosidoses, GM2 - diagnosis ; Gangliosidoses, GM2 - genetics ; genes ; genetic techniques and protocols ; glucose ; heterozygosity ; Heterozygote ; HEXA gene ; Hexosaminidase A - genetics ; Humans ; Late onset GM2 ganglisidosis ; Magnetic Resonance Imaging ; Male ; Motor neuron disease ; muscular atrophy ; Muscular Atrophy, Spinal - diagnosis ; Mutation ; patients ; phenotype ; positron-emission tomography ; spectroscopy ; Spinal muscular atrophy</subject><ispartof>Gene, 2013-09, Vol.527 (2), p.679-682</ispartof><rights>2013 Elsevier B.V.</rights><rights>2013 Elsevier B.V. All rights reserved.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c413t-8a03dc5b43d9d71ccfb31616c4081b8d85040ea27a09f9c889b3cf0131cf81f13</citedby><cites>FETCH-LOGICAL-c413t-8a03dc5b43d9d71ccfb31616c4081b8d85040ea27a09f9c889b3cf0131cf81f13</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://dx.doi.org/10.1016/j.gene.2013.06.030$$EHTML$$P50$$Gelsevier$$H</linktohtml><link.rule.ids>314,780,784,3550,27924,27925,45995</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/23820084$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Jamrozik, Z.</creatorcontrib><creatorcontrib>Ługowska, A.</creatorcontrib><creatorcontrib>Gołębiowski, M.</creatorcontrib><creatorcontrib>Królicki, L.</creatorcontrib><creatorcontrib>Mączewska, J.</creatorcontrib><creatorcontrib>Kuźma-Kozakiewicz, M.</creatorcontrib><title>Late onset GM2 gangliosidosis mimicking spinal muscular atrophy</title><title>Gene</title><addtitle>Gene</addtitle><description>A case of late onset GM2 gangliosidodis with spinal muscular atrophy phenotype followed by cerebellar and extrapyramidal symptoms is presented. Genetic analysis revealed compound heterozygous mutation in exon 10 of the HEXA gene. Patient has normal intelligence and emotional reactivity. Neuroimaging tests of the brain showed only cerebellar atrophy consistent with MR spectroscopy (MRS) abnormalities. (18)F-fluorodeoxyglucose positron emission tomography (18)F-FDG PET/CT of the brain revealed glucose hypometabolism in cerebellum and in temporal and occipital lobes bilaterally.
•Late onset GM2 with spinal SMA phenotype followed by cerebellar symptoms and dystonia.•Compound heterozygous mutation in exon 10 of the HEXA gene.•MRI of the brain showed cerebellar atrophy consistent with MRS abnormalities.•FDG PET/CT showed hypometabolism in cerebellum and in temporal and occipital cortex.</description><subject>Adult</subject><subject>cerebellum</subject><subject>Diagnosis, Differential</subject><subject>exons</subject><subject>Gangliosidoses, GM2 - diagnosis</subject><subject>Gangliosidoses, GM2 - genetics</subject><subject>genes</subject><subject>genetic techniques and protocols</subject><subject>glucose</subject><subject>heterozygosity</subject><subject>Heterozygote</subject><subject>HEXA gene</subject><subject>Hexosaminidase A - genetics</subject><subject>Humans</subject><subject>Late onset GM2 ganglisidosis</subject><subject>Magnetic Resonance Imaging</subject><subject>Male</subject><subject>Motor neuron disease</subject><subject>muscular atrophy</subject><subject>Muscular Atrophy, Spinal - diagnosis</subject><subject>Mutation</subject><subject>patients</subject><subject>phenotype</subject><subject>positron-emission tomography</subject><subject>spectroscopy</subject><subject>Spinal muscular atrophy</subject><issn>0378-1119</issn><issn>1879-0038</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2013</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkE1LxDAQhoMoun78AQ_ao5fWmSRtUxBERFdhxYN6Dmma1qz9WJNW8N-bZdWjDgxzeeZl5iHkGCFBwOx8mTSmNwkFZAlkCTDYIjMUeREDMLFNZsByESNisUf2vV9CqDSlu2SPMkEBBJ-Ry4UaTTT03ozR_IFGjeqb1g7eVqF91NnO6jfbN5Ff2V61UTd5PbXKRWp0w-r185Ds1Kr15uh7HpCX25vn67t48Ti_v75axJojG2OhgFU6LTmriipHreuSYYaZ5iCwFJVIgYNRNFdQ1IUWoiiZrsNjqGuBNbIDcrbJXbnhfTJ-lJ312rSt6s0weYkZzYtcAKX_o5xmgEB5GlC6QbUbvHemlitnO-U-JYJcO5ZLuXYs144lZDI4Dksn3_lT2Znqd-VHagBON0CtBqkaZ718eQoJafDPeZ4WgbjYECYo-7DGSa-t6bWprDN6lNVg_7rgC6eQlO8</recordid><startdate>20130925</startdate><enddate>20130925</enddate><creator>Jamrozik, Z.</creator><creator>Ługowska, A.</creator><creator>Gołębiowski, M.</creator><creator>Królicki, L.</creator><creator>Mączewska, J.</creator><creator>Kuźma-Kozakiewicz, M.</creator><general>Elsevier B.V</general><scope>FBQ</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope><scope>7TK</scope><scope>8FD</scope><scope>FR3</scope><scope>P64</scope><scope>RC3</scope></search><sort><creationdate>20130925</creationdate><title>Late onset GM2 gangliosidosis mimicking spinal muscular atrophy</title><author>Jamrozik, Z. ; Ługowska, A. ; Gołębiowski, M. ; Królicki, L. ; Mączewska, J. ; Kuźma-Kozakiewicz, M.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c413t-8a03dc5b43d9d71ccfb31616c4081b8d85040ea27a09f9c889b3cf0131cf81f13</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2013</creationdate><topic>Adult</topic><topic>cerebellum</topic><topic>Diagnosis, Differential</topic><topic>exons</topic><topic>Gangliosidoses, GM2 - diagnosis</topic><topic>Gangliosidoses, GM2 - genetics</topic><topic>genes</topic><topic>genetic techniques and protocols</topic><topic>glucose</topic><topic>heterozygosity</topic><topic>Heterozygote</topic><topic>HEXA gene</topic><topic>Hexosaminidase A - genetics</topic><topic>Humans</topic><topic>Late onset GM2 ganglisidosis</topic><topic>Magnetic Resonance Imaging</topic><topic>Male</topic><topic>Motor neuron disease</topic><topic>muscular atrophy</topic><topic>Muscular Atrophy, Spinal - diagnosis</topic><topic>Mutation</topic><topic>patients</topic><topic>phenotype</topic><topic>positron-emission tomography</topic><topic>spectroscopy</topic><topic>Spinal muscular atrophy</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Jamrozik, Z.</creatorcontrib><creatorcontrib>Ługowska, A.</creatorcontrib><creatorcontrib>Gołębiowski, M.</creatorcontrib><creatorcontrib>Królicki, L.</creatorcontrib><creatorcontrib>Mączewska, J.</creatorcontrib><creatorcontrib>Kuźma-Kozakiewicz, M.</creatorcontrib><collection>AGRIS</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><collection>Neurosciences Abstracts</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><jtitle>Gene</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Jamrozik, Z.</au><au>Ługowska, A.</au><au>Gołębiowski, M.</au><au>Królicki, L.</au><au>Mączewska, J.</au><au>Kuźma-Kozakiewicz, M.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Late onset GM2 gangliosidosis mimicking spinal muscular atrophy</atitle><jtitle>Gene</jtitle><addtitle>Gene</addtitle><date>2013-09-25</date><risdate>2013</risdate><volume>527</volume><issue>2</issue><spage>679</spage><epage>682</epage><pages>679-682</pages><issn>0378-1119</issn><eissn>1879-0038</eissn><abstract>A case of late onset GM2 gangliosidodis with spinal muscular atrophy phenotype followed by cerebellar and extrapyramidal symptoms is presented. Genetic analysis revealed compound heterozygous mutation in exon 10 of the HEXA gene. Patient has normal intelligence and emotional reactivity. Neuroimaging tests of the brain showed only cerebellar atrophy consistent with MR spectroscopy (MRS) abnormalities. (18)F-fluorodeoxyglucose positron emission tomography (18)F-FDG PET/CT of the brain revealed glucose hypometabolism in cerebellum and in temporal and occipital lobes bilaterally.
•Late onset GM2 with spinal SMA phenotype followed by cerebellar symptoms and dystonia.•Compound heterozygous mutation in exon 10 of the HEXA gene.•MRI of the brain showed cerebellar atrophy consistent with MRS abnormalities.•FDG PET/CT showed hypometabolism in cerebellum and in temporal and occipital cortex.</abstract><cop>Netherlands</cop><pub>Elsevier B.V</pub><pmid>23820084</pmid><doi>10.1016/j.gene.2013.06.030</doi><tpages>4</tpages></addata></record> |
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| subjects | Adult cerebellum Diagnosis, Differential exons Gangliosidoses, GM2 - diagnosis Gangliosidoses, GM2 - genetics genes genetic techniques and protocols glucose heterozygosity Heterozygote HEXA gene Hexosaminidase A - genetics Humans Late onset GM2 ganglisidosis Magnetic Resonance Imaging Male Motor neuron disease muscular atrophy Muscular Atrophy, Spinal - diagnosis Mutation patients phenotype positron-emission tomography spectroscopy Spinal muscular atrophy |
| title | Late onset GM2 gangliosidosis mimicking spinal muscular atrophy |
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