A Novel Mutation of VPS13D-related Disorders with Parkinsonism
We herein report a case of VPS13D-related disorder with a novel homogeneous variant. A 58-year-old Japanese woman was referred to our hospital with slowly progressive gait disturbance and cognitive impairment. A neurological examination revealed decreased spontaneity, recent memory impairment, parki...
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| Veröffentlicht in: | Internal Medicine 2024/09/15, Vol.63(18), pp.2551-2553 |
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| creator | Harada, Shizuka Azuma, Yoshiteru Misumi, Yohei Hayashi, Hirotaka Matsubara, Soichiro Nakahara, Keiichi Miyatake, Satoko Matsumoto, Naomichi Ueda, Mitsuharu |
| description | We herein report a case of VPS13D-related disorder with a novel homogeneous variant. A 58-year-old Japanese woman was referred to our hospital with slowly progressive gait disturbance and cognitive impairment. A neurological examination revealed decreased spontaneity, recent memory impairment, parkinsonism, cerebellar ataxia, pyramidal signs, and autonomic dysfunction. Dopamine transporter single-photon-emission computed tomography showed a markedly reduced uptake in the striatum bilaterally. Whole-exome sequencing revealed a novel homozygous missense variant of the VPS13D gene (Arg3267Pro). Our case suggests that mutations in VPS13D may cause parkinsonism, in addition to the previously reported cerebellar ataxia and spastic paraplegia. |
| doi_str_mv | 10.2169/internalmedicine.3101-23 |
| format | Article |
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A 58-year-old Japanese woman was referred to our hospital with slowly progressive gait disturbance and cognitive impairment. A neurological examination revealed decreased spontaneity, recent memory impairment, parkinsonism, cerebellar ataxia, pyramidal signs, and autonomic dysfunction. Dopamine transporter single-photon-emission computed tomography showed a markedly reduced uptake in the striatum bilaterally. Whole-exome sequencing revealed a novel homozygous missense variant of the VPS13D gene (Arg3267Pro). Our case suggests that mutations in VPS13D may cause parkinsonism, in addition to the previously reported cerebellar ataxia and spastic paraplegia.</description><identifier>ISSN: 0918-2918</identifier><identifier>ISSN: 1349-7235</identifier><identifier>EISSN: 1349-7235</identifier><identifier>DOI: 10.2169/internalmedicine.3101-23</identifier><identifier>PMID: 38369353</identifier><language>eng</language><publisher>Japan: The Japanese Society of Internal Medicine</publisher><subject>ataxia ; Autonomic nervous system ; Basal ganglia ; Case Report ; Case reports ; Central nervous system diseases ; Cerebellar ataxia ; Cerebellum ; cognitive impairment ; Computed tomography ; Dopamine transporter ; Exome Sequencing ; Female ; Hereditary spastic paraplegia ; Humans ; Middle Aged ; Movement disorders ; Mutation ; Mutation, Missense ; Neostriatum ; Neurological complications ; Parkinsonian Disorders - diagnosis ; Parkinsonian Disorders - diagnostic imaging ; Parkinsonian Disorders - genetics ; parkinsonism ; spastic paraplegia ; Tomography, Emission-Computed, Single-Photon ; VPS13D ; Whole genome sequencing</subject><ispartof>Internal Medicine, 2024/09/15, Vol.63(18), pp.2551-2553</ispartof><rights>2024 by The Japanese Society of Internal Medicine</rights><rights>2024. This work is published under https://creativecommons.org/licenses/by-nc-nd/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.</rights><rights>Copyright © 2024 by The Japanese Society of Internal Medicine</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><cites>FETCH-LOGICAL-c462t-f0ec0e743f3abe77e1aa0a6451b6fe033449208cb10740b850b432c5070f692f3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC11473267/pdf/$$EPDF$$P50$$Gpubmedcentral$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC11473267/$$EHTML$$P50$$Gpubmedcentral$$Hfree_for_read</linktohtml><link.rule.ids>230,314,724,777,781,882,1877,27905,27906,53772,53774</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/38369353$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Harada, Shizuka</creatorcontrib><creatorcontrib>Azuma, Yoshiteru</creatorcontrib><creatorcontrib>Misumi, Yohei</creatorcontrib><creatorcontrib>Hayashi, Hirotaka</creatorcontrib><creatorcontrib>Matsubara, Soichiro</creatorcontrib><creatorcontrib>Nakahara, Keiichi</creatorcontrib><creatorcontrib>Miyatake, Satoko</creatorcontrib><creatorcontrib>Matsumoto, Naomichi</creatorcontrib><creatorcontrib>Ueda, Mitsuharu</creatorcontrib><title>A Novel Mutation of VPS13D-related Disorders with Parkinsonism</title><title>Internal Medicine</title><addtitle>Intern. Med.</addtitle><description>We herein report a case of VPS13D-related disorder with a novel homogeneous variant. A 58-year-old Japanese woman was referred to our hospital with slowly progressive gait disturbance and cognitive impairment. A neurological examination revealed decreased spontaneity, recent memory impairment, parkinsonism, cerebellar ataxia, pyramidal signs, and autonomic dysfunction. Dopamine transporter single-photon-emission computed tomography showed a markedly reduced uptake in the striatum bilaterally. Whole-exome sequencing revealed a novel homozygous missense variant of the VPS13D gene (Arg3267Pro). Our case suggests that mutations in VPS13D may cause parkinsonism, in addition to the previously reported cerebellar ataxia and spastic paraplegia.</description><subject>ataxia</subject><subject>Autonomic nervous system</subject><subject>Basal ganglia</subject><subject>Case Report</subject><subject>Case reports</subject><subject>Central nervous system diseases</subject><subject>Cerebellar ataxia</subject><subject>Cerebellum</subject><subject>cognitive impairment</subject><subject>Computed tomography</subject><subject>Dopamine transporter</subject><subject>Exome Sequencing</subject><subject>Female</subject><subject>Hereditary spastic paraplegia</subject><subject>Humans</subject><subject>Middle Aged</subject><subject>Movement disorders</subject><subject>Mutation</subject><subject>Mutation, Missense</subject><subject>Neostriatum</subject><subject>Neurological complications</subject><subject>Parkinsonian Disorders - diagnosis</subject><subject>Parkinsonian Disorders - diagnostic imaging</subject><subject>Parkinsonian Disorders - genetics</subject><subject>parkinsonism</subject><subject>spastic paraplegia</subject><subject>Tomography, Emission-Computed, Single-Photon</subject><subject>VPS13D</subject><subject>Whole genome sequencing</subject><issn>0918-2918</issn><issn>1349-7235</issn><issn>1349-7235</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2024</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNplkcluFDEQhi0EIkPgFVBLXLh0sF3e-gKKEjYpkEgsV8vtqc546LET2x3E29OjGUYQLlWH-uqv5SekYfSEM9W9CrFijm7c4DL4EPEEGGUthwdkwUB0reYgH5IF7Zhp-RyOyJNS1pSC0R1_TI7AgOpAwoK8Pm0-pzscm09TdTWk2KSh-X71hcF5m3F0FZfNeSgpLzGX5meoq-bK5R8hlhRD2TwljwY3Fny2z8fk27u3X88-tBeX7z-enV60Xihe24Gip6gFDOB61BqZc9QpIVmvBqQAQnScGt8zqgXtjaS9AO4l1XRQHR_gmLzZ6d5M_Xy0x1izG-1NDhuXf9nkgv23EsPKXqc7y5jQwJWeFV7uFXK6nbBUuwnF4zi6iGkqlnfcSCOlpDP64h66TtP23cUCY0pyxZWcKbOjfE6lZBwO2zBqty7Z-y7ZrUuWw9z6_O9rDo1_bJmByx2wLtVd4wFwuQY_4v_KCiwz27gfcSD9ymWLEX4DXxSvUg</recordid><startdate>20240915</startdate><enddate>20240915</enddate><creator>Harada, Shizuka</creator><creator>Azuma, Yoshiteru</creator><creator>Misumi, Yohei</creator><creator>Hayashi, Hirotaka</creator><creator>Matsubara, Soichiro</creator><creator>Nakahara, Keiichi</creator><creator>Miyatake, Satoko</creator><creator>Matsumoto, Naomichi</creator><creator>Ueda, Mitsuharu</creator><general>The Japanese Society of Internal Medicine</general><general>Japan Science and Technology Agency</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>7T5</scope><scope>7TK</scope><scope>7U9</scope><scope>H94</scope><scope>7X8</scope><scope>5PM</scope></search><sort><creationdate>20240915</creationdate><title>A Novel Mutation of VPS13D-related Disorders with Parkinsonism</title><author>Harada, Shizuka ; Azuma, Yoshiteru ; Misumi, Yohei ; Hayashi, Hirotaka ; Matsubara, Soichiro ; Nakahara, Keiichi ; Miyatake, Satoko ; Matsumoto, Naomichi ; Ueda, Mitsuharu</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c462t-f0ec0e743f3abe77e1aa0a6451b6fe033449208cb10740b850b432c5070f692f3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2024</creationdate><topic>ataxia</topic><topic>Autonomic nervous system</topic><topic>Basal ganglia</topic><topic>Case Report</topic><topic>Case reports</topic><topic>Central nervous system diseases</topic><topic>Cerebellar ataxia</topic><topic>Cerebellum</topic><topic>cognitive impairment</topic><topic>Computed tomography</topic><topic>Dopamine transporter</topic><topic>Exome Sequencing</topic><topic>Female</topic><topic>Hereditary spastic paraplegia</topic><topic>Humans</topic><topic>Middle Aged</topic><topic>Movement disorders</topic><topic>Mutation</topic><topic>Mutation, Missense</topic><topic>Neostriatum</topic><topic>Neurological complications</topic><topic>Parkinsonian Disorders - diagnosis</topic><topic>Parkinsonian Disorders - diagnostic imaging</topic><topic>Parkinsonian Disorders - genetics</topic><topic>parkinsonism</topic><topic>spastic paraplegia</topic><topic>Tomography, Emission-Computed, Single-Photon</topic><topic>VPS13D</topic><topic>Whole genome sequencing</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Harada, Shizuka</creatorcontrib><creatorcontrib>Azuma, Yoshiteru</creatorcontrib><creatorcontrib>Misumi, Yohei</creatorcontrib><creatorcontrib>Hayashi, Hirotaka</creatorcontrib><creatorcontrib>Matsubara, Soichiro</creatorcontrib><creatorcontrib>Nakahara, Keiichi</creatorcontrib><creatorcontrib>Miyatake, Satoko</creatorcontrib><creatorcontrib>Matsumoto, Naomichi</creatorcontrib><creatorcontrib>Ueda, Mitsuharu</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Immunology Abstracts</collection><collection>Neurosciences Abstracts</collection><collection>Virology and AIDS Abstracts</collection><collection>AIDS and Cancer Research Abstracts</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>Internal Medicine</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Harada, Shizuka</au><au>Azuma, Yoshiteru</au><au>Misumi, Yohei</au><au>Hayashi, Hirotaka</au><au>Matsubara, Soichiro</au><au>Nakahara, Keiichi</au><au>Miyatake, Satoko</au><au>Matsumoto, Naomichi</au><au>Ueda, Mitsuharu</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>A Novel Mutation of VPS13D-related Disorders with Parkinsonism</atitle><jtitle>Internal Medicine</jtitle><addtitle>Intern. Med.</addtitle><date>2024-09-15</date><risdate>2024</risdate><volume>63</volume><issue>18</issue><spage>2551</spage><epage>2553</epage><pages>2551-2553</pages><artnum>3101-23</artnum><issn>0918-2918</issn><issn>1349-7235</issn><eissn>1349-7235</eissn><abstract>We herein report a case of VPS13D-related disorder with a novel homogeneous variant. A 58-year-old Japanese woman was referred to our hospital with slowly progressive gait disturbance and cognitive impairment. A neurological examination revealed decreased spontaneity, recent memory impairment, parkinsonism, cerebellar ataxia, pyramidal signs, and autonomic dysfunction. Dopamine transporter single-photon-emission computed tomography showed a markedly reduced uptake in the striatum bilaterally. Whole-exome sequencing revealed a novel homozygous missense variant of the VPS13D gene (Arg3267Pro). Our case suggests that mutations in VPS13D may cause parkinsonism, in addition to the previously reported cerebellar ataxia and spastic paraplegia.</abstract><cop>Japan</cop><pub>The Japanese Society of Internal Medicine</pub><pmid>38369353</pmid><doi>10.2169/internalmedicine.3101-23</doi><tpages>3</tpages><oa>free_for_read</oa></addata></record> |
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| subjects | ataxia Autonomic nervous system Basal ganglia Case Report Case reports Central nervous system diseases Cerebellar ataxia Cerebellum cognitive impairment Computed tomography Dopamine transporter Exome Sequencing Female Hereditary spastic paraplegia Humans Middle Aged Movement disorders Mutation Mutation, Missense Neostriatum Neurological complications Parkinsonian Disorders - diagnosis Parkinsonian Disorders - diagnostic imaging Parkinsonian Disorders - genetics parkinsonism spastic paraplegia Tomography, Emission-Computed, Single-Photon VPS13D Whole genome sequencing |
| title | A Novel Mutation of VPS13D-related Disorders with Parkinsonism |
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