A Patient with the GLA p.E66Q Mutation Exhibiting Vascular Parkinsonism and Bilateral Pulvinar Lesions
A 76-year-old man was admitted to our hospital due to gait difficulty. Brain imaging indicated bilateral pulvinar lesions and moderate white matter lesions. The serum α-galactosidase A levels were measured for the differential diagnosis of bilateral pulvinar lesions and were found to be abnormally l...
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| Veröffentlicht in: | Internal Medicine 2015, Vol.54(19), pp.2503-2506 |
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| container_title | Internal Medicine |
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| creator | Tomizawa, Yuji Okuzumi, Ayami Shiotsuki, Hiromi Noda, Kazuyuki Hattori, Nobutaka Okuma, Yasuyuki |
| description | A 76-year-old man was admitted to our hospital due to gait difficulty. Brain imaging indicated bilateral pulvinar lesions and moderate white matter lesions. The serum α-galactosidase A levels were measured for the differential diagnosis of bilateral pulvinar lesions and were found to be abnormally low. Therefore, the patient was suspected to have variant Fabry disease. A GLA mutation analysis showed the p.E66Q mutation, which is speculated to be a functional polymorphism rather than a disease-causing mutation of Fabry disease. Enzyme replacement therapy did not result in a marked improvement, however, the disease progression stopped. |
| doi_str_mv | 10.2169/internalmedicine.54.4437 |
| format | Article |
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Brain imaging indicated bilateral pulvinar lesions and moderate white matter lesions. The serum α-galactosidase A levels were measured for the differential diagnosis of bilateral pulvinar lesions and were found to be abnormally low. Therefore, the patient was suspected to have variant Fabry disease. A GLA mutation analysis showed the p.E66Q mutation, which is speculated to be a functional polymorphism rather than a disease-causing mutation of Fabry disease. Enzyme replacement therapy did not result in a marked improvement, however, the disease progression stopped.</description><identifier>ISSN: 0918-2918</identifier><identifier>EISSN: 1349-7235</identifier><identifier>DOI: 10.2169/internalmedicine.54.4437</identifier><identifier>PMID: 26424312</identifier><language>eng</language><publisher>Japan: The Japanese Society of Internal Medicine</publisher><subject>alpha-Galactosidase - blood ; Diagnosis, Differential ; Disease Progression ; DNA Mutational Analysis ; Enzyme Replacement Therapy ; Fabry disease ; Fabry Disease - blood ; Fabry Disease - diagnosis ; Fabry Disease - genetics ; Humans ; Male ; Middle Aged ; Mutation - genetics ; Parkinsonian Disorders - blood ; Parkinsonian Disorders - etiology ; Parkinsonian Disorders - genetics ; Pulvinar - pathology ; pulvinar sign ; Risk Factors ; Treatment Outcome ; vascular parkinsonism</subject><ispartof>Internal Medicine, 2015, Vol.54(19), pp.2503-2506</ispartof><rights>2015 by The Japanese Society of Internal Medicine</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c560t-1c73d7838b995b3a259a55cee0d2a168ac88433368dc80739b87ce1ac17f2b163</citedby><cites>FETCH-LOGICAL-c560t-1c73d7838b995b3a259a55cee0d2a168ac88433368dc80739b87ce1ac17f2b163</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,776,780,1877,27901,27902</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/26424312$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Tomizawa, Yuji</creatorcontrib><creatorcontrib>Okuzumi, Ayami</creatorcontrib><creatorcontrib>Shiotsuki, Hiromi</creatorcontrib><creatorcontrib>Noda, Kazuyuki</creatorcontrib><creatorcontrib>Hattori, Nobutaka</creatorcontrib><creatorcontrib>Okuma, Yasuyuki</creatorcontrib><title>A Patient with the GLA p.E66Q Mutation Exhibiting Vascular Parkinsonism and Bilateral Pulvinar Lesions</title><title>Internal Medicine</title><addtitle>Intern. Med.</addtitle><description>A 76-year-old man was admitted to our hospital due to gait difficulty. Brain imaging indicated bilateral pulvinar lesions and moderate white matter lesions. The serum α-galactosidase A levels were measured for the differential diagnosis of bilateral pulvinar lesions and were found to be abnormally low. Therefore, the patient was suspected to have variant Fabry disease. A GLA mutation analysis showed the p.E66Q mutation, which is speculated to be a functional polymorphism rather than a disease-causing mutation of Fabry disease. Enzyme replacement therapy did not result in a marked improvement, however, the disease progression stopped.</description><subject>alpha-Galactosidase - blood</subject><subject>Diagnosis, Differential</subject><subject>Disease Progression</subject><subject>DNA Mutational Analysis</subject><subject>Enzyme Replacement Therapy</subject><subject>Fabry disease</subject><subject>Fabry Disease - blood</subject><subject>Fabry Disease - diagnosis</subject><subject>Fabry Disease - genetics</subject><subject>Humans</subject><subject>Male</subject><subject>Middle Aged</subject><subject>Mutation - genetics</subject><subject>Parkinsonian Disorders - blood</subject><subject>Parkinsonian Disorders - etiology</subject><subject>Parkinsonian Disorders - genetics</subject><subject>Pulvinar - pathology</subject><subject>pulvinar sign</subject><subject>Risk Factors</subject><subject>Treatment Outcome</subject><subject>vascular parkinsonism</subject><issn>0918-2918</issn><issn>1349-7235</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2015</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqNkc1uEzEUhS1ERUPhFZCXbCaM7fHfMlShVApqKxW21h2P07g4nmB7-Hn7OkrIArHo5npxv-9cSwchTNo5JUJ_8LG4FCFs3eCtj27Ou3nXMfkCzQjrdCMp4y_RrNVENbSOc_Q658e2ZUpq-gqdU9HRjhE6Q-sFvoXiXSz4ly8bXDYOX60WeDdfCnGHv0ylbseIl783vvfFxwf8DbKdAqQqpu8-5jH6vMUQB_zRB6gfg4Bvp_DTx8qsXK56foPO1hCye3t8L9DXT8v7y8_N6ubq-nKxaiwXbWmIlWyQiqlea94zoFwD59a5dqBAhAKrVMcYE2qwqpVM90paR8ASuaY9EewCvT_k7tL4Y3K5mK3P1oUA0Y1TNkQyWkUhyTNQojQhjO9T1QG1acw5ubXZJb-F9MeQ1uwLMf8WYnhn9oVU9d3xytTX5Un820AFbg7AYy7w4E4ApOJtcP9NJno_jydOpN1AMi6yJ8GmqJM</recordid><startdate>20150101</startdate><enddate>20150101</enddate><creator>Tomizawa, Yuji</creator><creator>Okuzumi, Ayami</creator><creator>Shiotsuki, Hiromi</creator><creator>Noda, Kazuyuki</creator><creator>Hattori, Nobutaka</creator><creator>Okuma, Yasuyuki</creator><general>The Japanese Society of Internal Medicine</general><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>7U7</scope><scope>C1K</scope></search><sort><creationdate>20150101</creationdate><title>A Patient with the GLA p.E66Q Mutation Exhibiting Vascular Parkinsonism and Bilateral Pulvinar Lesions</title><author>Tomizawa, Yuji ; Okuzumi, Ayami ; Shiotsuki, Hiromi ; Noda, Kazuyuki ; Hattori, Nobutaka ; Okuma, Yasuyuki</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c560t-1c73d7838b995b3a259a55cee0d2a168ac88433368dc80739b87ce1ac17f2b163</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2015</creationdate><topic>alpha-Galactosidase - blood</topic><topic>Diagnosis, Differential</topic><topic>Disease Progression</topic><topic>DNA Mutational Analysis</topic><topic>Enzyme Replacement Therapy</topic><topic>Fabry disease</topic><topic>Fabry Disease - blood</topic><topic>Fabry Disease - diagnosis</topic><topic>Fabry Disease - genetics</topic><topic>Humans</topic><topic>Male</topic><topic>Middle Aged</topic><topic>Mutation - genetics</topic><topic>Parkinsonian Disorders - blood</topic><topic>Parkinsonian Disorders - etiology</topic><topic>Parkinsonian Disorders - genetics</topic><topic>Pulvinar - pathology</topic><topic>pulvinar sign</topic><topic>Risk Factors</topic><topic>Treatment Outcome</topic><topic>vascular parkinsonism</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Tomizawa, Yuji</creatorcontrib><creatorcontrib>Okuzumi, Ayami</creatorcontrib><creatorcontrib>Shiotsuki, Hiromi</creatorcontrib><creatorcontrib>Noda, Kazuyuki</creatorcontrib><creatorcontrib>Hattori, Nobutaka</creatorcontrib><creatorcontrib>Okuma, Yasuyuki</creatorcontrib><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>Toxicology Abstracts</collection><collection>Environmental Sciences and Pollution Management</collection><jtitle>Internal Medicine</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Tomizawa, Yuji</au><au>Okuzumi, Ayami</au><au>Shiotsuki, Hiromi</au><au>Noda, Kazuyuki</au><au>Hattori, Nobutaka</au><au>Okuma, Yasuyuki</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>A Patient with the GLA p.E66Q Mutation Exhibiting Vascular Parkinsonism and Bilateral Pulvinar Lesions</atitle><jtitle>Internal Medicine</jtitle><addtitle>Intern. Med.</addtitle><date>2015-01-01</date><risdate>2015</risdate><volume>54</volume><issue>19</issue><spage>2503</spage><epage>2506</epage><pages>2503-2506</pages><issn>0918-2918</issn><eissn>1349-7235</eissn><abstract>A 76-year-old man was admitted to our hospital due to gait difficulty. Brain imaging indicated bilateral pulvinar lesions and moderate white matter lesions. The serum α-galactosidase A levels were measured for the differential diagnosis of bilateral pulvinar lesions and were found to be abnormally low. Therefore, the patient was suspected to have variant Fabry disease. A GLA mutation analysis showed the p.E66Q mutation, which is speculated to be a functional polymorphism rather than a disease-causing mutation of Fabry disease. 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| source | J-STAGE Free; MEDLINE |
| subjects | alpha-Galactosidase - blood Diagnosis, Differential Disease Progression DNA Mutational Analysis Enzyme Replacement Therapy Fabry disease Fabry Disease - blood Fabry Disease - diagnosis Fabry Disease - genetics Humans Male Middle Aged Mutation - genetics Parkinsonian Disorders - blood Parkinsonian Disorders - etiology Parkinsonian Disorders - genetics Pulvinar - pathology pulvinar sign Risk Factors Treatment Outcome vascular parkinsonism |
| title | A Patient with the GLA p.E66Q Mutation Exhibiting Vascular Parkinsonism and Bilateral Pulvinar Lesions |
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