Brain iron accumulation in a blood donor family with restless legs syndrome
The pathophysiology of restless legs syndrome (RLS) is complex. Secondary RLS with iron deficiency -which suggests disturbed iron homeostasis- remains to be elucidated. We report the findings from a unique blood donor family with RLS. Three blood donors family members were diagnosed with RLS defined...
Gespeichert in:
| Veröffentlicht in: | Revista de neurologiá 2019-02, Vol.68 (3), p.107-110 |
|---|---|
| Hauptverfasser: | , , , , , |
| Format: | Artikel |
| Sprache: | eng ; spa |
| Schlagworte: | |
| Online-Zugang: | Volltext |
| Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|
| container_end_page | 110 |
|---|---|
| container_issue | 3 |
| container_start_page | 107 |
| container_title | Revista de neurologiá |
| container_volume | 68 |
| creator | Lillo-Triguero, L Del Castillo, A Guzman de Villoria, J Moran-Jimenez, M J Guillem, A Peraita-Adrados, R |
| description | The pathophysiology of restless legs syndrome (RLS) is complex. Secondary RLS with iron deficiency -which suggests disturbed iron homeostasis- remains to be elucidated.
We report the findings from a unique blood donor family with RLS. Three blood donors family members were diagnosed with RLS defined by the International RLS Study Group and without history of neurologic diseases and RLS symptoms in the last 3-5 years (range of blood donation: 10-40 years). The neurological examination and electromyographies were normal. A polisomnography showed disturbed nocturnal sleep with a reduction in sleep efficiency and an increased periodic limbs movement index. The cranial MRI showed brain iron deposits in basal ganglia, substantia nigra, red nuclei and dentate nuclei. Phenotypic and genotypic studies rule out genetic haemochromatosis or iron overload.
The abnormal iron accumulation in the basal ganglia indicated a complex iron metabolism disorder of the central nervous system. Further studies are warranted to confirm our findings and its role in the pathophysiology of RLS. |
| doi_str_mv | 10.33588/rn.6803.2018466 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_pubme</sourceid><recordid>TN_cdi_proquest_miscellaneous_2179441575</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>2179441575</sourcerecordid><originalsourceid>FETCH-LOGICAL-p141t-8b3d33fc4b9176c391c7256dc75cb5c9191383769871bba93432044590f2bd83</originalsourceid><addsrcrecordid>eNo1j01LAzEYhIMgtlbvniRHL1uTffN51GJVLHjpfcnX6kp2U5NdpP_eBetpmOFhmEHohpI1AFfqPg9roQisa0IVE-IMLSmXohJcqgW6LOWLEAZMkwu0ACKU1FQu0dtjNt2Au5wGbJyb-imasZvNHBpsY0oe-zSkjFvTd_GIf7rxE-dQxhhKwTF8FFyOg8-pD1fovDWxhOuTrtB--7TfvFS79-fXzcOuOlBGx0pZ8ACtY3ZeIBxo6mTNhXeSO8udppqCAim0ktRao4FBTRjjmrS19QpW6O6v9pDT9zQvafquuBCjGUKaSlNTqRmbv_MZvT2hk-2Dbw65600-Nv__4RdRbFpg</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>2179441575</pqid></control><display><type>article</type><title>Brain iron accumulation in a blood donor family with restless legs syndrome</title><source>MEDLINE</source><source>EZB-FREE-00999 freely available EZB journals</source><creator>Lillo-Triguero, L ; Del Castillo, A ; Guzman de Villoria, J ; Moran-Jimenez, M J ; Guillem, A ; Peraita-Adrados, R</creator><creatorcontrib>Lillo-Triguero, L ; Del Castillo, A ; Guzman de Villoria, J ; Moran-Jimenez, M J ; Guillem, A ; Peraita-Adrados, R</creatorcontrib><description>The pathophysiology of restless legs syndrome (RLS) is complex. Secondary RLS with iron deficiency -which suggests disturbed iron homeostasis- remains to be elucidated.
We report the findings from a unique blood donor family with RLS. Three blood donors family members were diagnosed with RLS defined by the International RLS Study Group and without history of neurologic diseases and RLS symptoms in the last 3-5 years (range of blood donation: 10-40 years). The neurological examination and electromyographies were normal. A polisomnography showed disturbed nocturnal sleep with a reduction in sleep efficiency and an increased periodic limbs movement index. The cranial MRI showed brain iron deposits in basal ganglia, substantia nigra, red nuclei and dentate nuclei. Phenotypic and genotypic studies rule out genetic haemochromatosis or iron overload.
The abnormal iron accumulation in the basal ganglia indicated a complex iron metabolism disorder of the central nervous system. Further studies are warranted to confirm our findings and its role in the pathophysiology of RLS.</description><identifier>EISSN: 1576-6578</identifier><identifier>DOI: 10.33588/rn.6803.2018466</identifier><identifier>PMID: 30687917</identifier><language>eng ; spa</language><publisher>Spain</publisher><subject>Adult ; Aged ; Anemia, Iron-Deficiency - complications ; Basal Ganglia - chemistry ; Blood Donors ; Brain - diagnostic imaging ; Brain - metabolism ; Brain Chemistry ; Cerebellar Nuclei - chemistry ; Erythropoiesis ; Female ; Ferritins - blood ; Hemoglobins - analysis ; Humans ; Iron - analysis ; Iron - metabolism ; Iron - pharmacokinetics ; Magnetic Resonance Imaging ; Male ; Middle Aged ; Neuroimaging ; Pedigree ; Polysomnography ; Red Nucleus - chemistry ; Restless Legs Syndrome - genetics ; Restless Legs Syndrome - metabolism ; Smoking ; Substantia Nigra - chemistry ; Transferrin - analysis ; Vitamin B 12 Deficiency - complications</subject><ispartof>Revista de neurologiá, 2019-02, Vol.68 (3), p.107-110</ispartof><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,776,780,27903,27904</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/30687917$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Lillo-Triguero, L</creatorcontrib><creatorcontrib>Del Castillo, A</creatorcontrib><creatorcontrib>Guzman de Villoria, J</creatorcontrib><creatorcontrib>Moran-Jimenez, M J</creatorcontrib><creatorcontrib>Guillem, A</creatorcontrib><creatorcontrib>Peraita-Adrados, R</creatorcontrib><title>Brain iron accumulation in a blood donor family with restless legs syndrome</title><title>Revista de neurologiá</title><addtitle>Rev Neurol</addtitle><description>The pathophysiology of restless legs syndrome (RLS) is complex. Secondary RLS with iron deficiency -which suggests disturbed iron homeostasis- remains to be elucidated.
We report the findings from a unique blood donor family with RLS. Three blood donors family members were diagnosed with RLS defined by the International RLS Study Group and without history of neurologic diseases and RLS symptoms in the last 3-5 years (range of blood donation: 10-40 years). The neurological examination and electromyographies were normal. A polisomnography showed disturbed nocturnal sleep with a reduction in sleep efficiency and an increased periodic limbs movement index. The cranial MRI showed brain iron deposits in basal ganglia, substantia nigra, red nuclei and dentate nuclei. Phenotypic and genotypic studies rule out genetic haemochromatosis or iron overload.
The abnormal iron accumulation in the basal ganglia indicated a complex iron metabolism disorder of the central nervous system. Further studies are warranted to confirm our findings and its role in the pathophysiology of RLS.</description><subject>Adult</subject><subject>Aged</subject><subject>Anemia, Iron-Deficiency - complications</subject><subject>Basal Ganglia - chemistry</subject><subject>Blood Donors</subject><subject>Brain - diagnostic imaging</subject><subject>Brain - metabolism</subject><subject>Brain Chemistry</subject><subject>Cerebellar Nuclei - chemistry</subject><subject>Erythropoiesis</subject><subject>Female</subject><subject>Ferritins - blood</subject><subject>Hemoglobins - analysis</subject><subject>Humans</subject><subject>Iron - analysis</subject><subject>Iron - metabolism</subject><subject>Iron - pharmacokinetics</subject><subject>Magnetic Resonance Imaging</subject><subject>Male</subject><subject>Middle Aged</subject><subject>Neuroimaging</subject><subject>Pedigree</subject><subject>Polysomnography</subject><subject>Red Nucleus - chemistry</subject><subject>Restless Legs Syndrome - genetics</subject><subject>Restless Legs Syndrome - metabolism</subject><subject>Smoking</subject><subject>Substantia Nigra - chemistry</subject><subject>Transferrin - analysis</subject><subject>Vitamin B 12 Deficiency - complications</subject><issn>1576-6578</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2019</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNo1j01LAzEYhIMgtlbvniRHL1uTffN51GJVLHjpfcnX6kp2U5NdpP_eBetpmOFhmEHohpI1AFfqPg9roQisa0IVE-IMLSmXohJcqgW6LOWLEAZMkwu0ACKU1FQu0dtjNt2Au5wGbJyb-imasZvNHBpsY0oe-zSkjFvTd_GIf7rxE-dQxhhKwTF8FFyOg8-pD1fovDWxhOuTrtB--7TfvFS79-fXzcOuOlBGx0pZ8ACtY3ZeIBxo6mTNhXeSO8udppqCAim0ktRao4FBTRjjmrS19QpW6O6v9pDT9zQvafquuBCjGUKaSlNTqRmbv_MZvT2hk-2Dbw65600-Nv__4RdRbFpg</recordid><startdate>20190201</startdate><enddate>20190201</enddate><creator>Lillo-Triguero, L</creator><creator>Del Castillo, A</creator><creator>Guzman de Villoria, J</creator><creator>Moran-Jimenez, M J</creator><creator>Guillem, A</creator><creator>Peraita-Adrados, R</creator><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>7X8</scope></search><sort><creationdate>20190201</creationdate><title>Brain iron accumulation in a blood donor family with restless legs syndrome</title><author>Lillo-Triguero, L ; Del Castillo, A ; Guzman de Villoria, J ; Moran-Jimenez, M J ; Guillem, A ; Peraita-Adrados, R</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-p141t-8b3d33fc4b9176c391c7256dc75cb5c9191383769871bba93432044590f2bd83</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng ; spa</language><creationdate>2019</creationdate><topic>Adult</topic><topic>Aged</topic><topic>Anemia, Iron-Deficiency - complications</topic><topic>Basal Ganglia - chemistry</topic><topic>Blood Donors</topic><topic>Brain - diagnostic imaging</topic><topic>Brain - metabolism</topic><topic>Brain Chemistry</topic><topic>Cerebellar Nuclei - chemistry</topic><topic>Erythropoiesis</topic><topic>Female</topic><topic>Ferritins - blood</topic><topic>Hemoglobins - analysis</topic><topic>Humans</topic><topic>Iron - analysis</topic><topic>Iron - metabolism</topic><topic>Iron - pharmacokinetics</topic><topic>Magnetic Resonance Imaging</topic><topic>Male</topic><topic>Middle Aged</topic><topic>Neuroimaging</topic><topic>Pedigree</topic><topic>Polysomnography</topic><topic>Red Nucleus - chemistry</topic><topic>Restless Legs Syndrome - genetics</topic><topic>Restless Legs Syndrome - metabolism</topic><topic>Smoking</topic><topic>Substantia Nigra - chemistry</topic><topic>Transferrin - analysis</topic><topic>Vitamin B 12 Deficiency - complications</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Lillo-Triguero, L</creatorcontrib><creatorcontrib>Del Castillo, A</creatorcontrib><creatorcontrib>Guzman de Villoria, J</creatorcontrib><creatorcontrib>Moran-Jimenez, M J</creatorcontrib><creatorcontrib>Guillem, A</creatorcontrib><creatorcontrib>Peraita-Adrados, R</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>MEDLINE - Academic</collection><jtitle>Revista de neurologiá</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Lillo-Triguero, L</au><au>Del Castillo, A</au><au>Guzman de Villoria, J</au><au>Moran-Jimenez, M J</au><au>Guillem, A</au><au>Peraita-Adrados, R</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Brain iron accumulation in a blood donor family with restless legs syndrome</atitle><jtitle>Revista de neurologiá</jtitle><addtitle>Rev Neurol</addtitle><date>2019-02-01</date><risdate>2019</risdate><volume>68</volume><issue>3</issue><spage>107</spage><epage>110</epage><pages>107-110</pages><eissn>1576-6578</eissn><abstract>The pathophysiology of restless legs syndrome (RLS) is complex. Secondary RLS with iron deficiency -which suggests disturbed iron homeostasis- remains to be elucidated.
We report the findings from a unique blood donor family with RLS. Three blood donors family members were diagnosed with RLS defined by the International RLS Study Group and without history of neurologic diseases and RLS symptoms in the last 3-5 years (range of blood donation: 10-40 years). The neurological examination and electromyographies were normal. A polisomnography showed disturbed nocturnal sleep with a reduction in sleep efficiency and an increased periodic limbs movement index. The cranial MRI showed brain iron deposits in basal ganglia, substantia nigra, red nuclei and dentate nuclei. Phenotypic and genotypic studies rule out genetic haemochromatosis or iron overload.
The abnormal iron accumulation in the basal ganglia indicated a complex iron metabolism disorder of the central nervous system. Further studies are warranted to confirm our findings and its role in the pathophysiology of RLS.</abstract><cop>Spain</cop><pmid>30687917</pmid><doi>10.33588/rn.6803.2018466</doi><tpages>4</tpages></addata></record> |
| fulltext | fulltext |
| identifier | EISSN: 1576-6578 |
| ispartof | Revista de neurologiá, 2019-02, Vol.68 (3), p.107-110 |
| issn | 1576-6578 |
| language | eng ; spa |
| recordid | cdi_proquest_miscellaneous_2179441575 |
| source | MEDLINE; EZB-FREE-00999 freely available EZB journals |
| subjects | Adult Aged Anemia, Iron-Deficiency - complications Basal Ganglia - chemistry Blood Donors Brain - diagnostic imaging Brain - metabolism Brain Chemistry Cerebellar Nuclei - chemistry Erythropoiesis Female Ferritins - blood Hemoglobins - analysis Humans Iron - analysis Iron - metabolism Iron - pharmacokinetics Magnetic Resonance Imaging Male Middle Aged Neuroimaging Pedigree Polysomnography Red Nucleus - chemistry Restless Legs Syndrome - genetics Restless Legs Syndrome - metabolism Smoking Substantia Nigra - chemistry Transferrin - analysis Vitamin B 12 Deficiency - complications |
| title | Brain iron accumulation in a blood donor family with restless legs syndrome |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-01-21T17%3A59%3A54IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-proquest_pubme&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Brain%20iron%20accumulation%20in%20a%20blood%20donor%20family%20with%20restless%20legs%20syndrome&rft.jtitle=Revista%20de%20neurologi%C3%A1&rft.au=Lillo-Triguero,%20L&rft.date=2019-02-01&rft.volume=68&rft.issue=3&rft.spage=107&rft.epage=110&rft.pages=107-110&rft.eissn=1576-6578&rft_id=info:doi/10.33588/rn.6803.2018466&rft_dat=%3Cproquest_pubme%3E2179441575%3C/proquest_pubme%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=2179441575&rft_id=info:pmid/30687917&rfr_iscdi=true |