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A LRSAM1 mutation links Charcot–Marie–Tooth type 2 to P arkinson's disease
LRSAM1 mutations have been found in recessive and dominant forms of C harcot– M arie– T ooth disease. Within one generation of the original D utch family in which the dominant LRSAM1 mutation was identified, three of the five affected family members have developed P arkinson's disease between a...
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| Published in: | Annals of clinical and translational neurology 2016-02, Vol.3 (2), p.146-149 |
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| Main Authors: | , , , , , , , , |
| Format: | Article |
| Language: | English |
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| cites | cdi_FETCH-LOGICAL-c1003-e297331f58593e040bc6dbefe8593d00802f83251c34ccb8eac9b856813876643 |
| container_end_page | 149 |
| container_issue | 2 |
| container_start_page | 146 |
| container_title | Annals of clinical and translational neurology |
| container_volume | 3 |
| creator | Aerts, Marjolein B. Weterman, Marian A. J. Quadri, Marialuisa Schelhaas, H. Jurgen Bloem, Bastiaan R. Esselink, Rianne A. Baas, Frank Bonifati, Vincenzo van de Warrenburg, Bart P. |
| description | LRSAM1
mutations have been found in recessive and dominant forms of
C
harcot–
M
arie–
T
ooth disease. Within one generation of the original
D
utch family in which the dominant
LRSAM1
mutation was identified, three of the five affected family members have developed
P
arkinson's disease between ages 50 and 65 years, many years after neuropathy onset. We speculate that this late‐onset parkinsonism is part of the
LRSAM
1 phenotype, thus associating a hitherto peripheral nerve disease with a central nervous system phenotype. How the mutated Lrsam1 protein, which normally has E3 ubiquitin ligase activity and is expressed in the nervous system, impacts on substantia nigra neurons is unclear. |
| doi_str_mv | 10.1002/acn3.281 |
| format | article |
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mutations have been found in recessive and dominant forms of
C
harcot–
M
arie–
T
ooth disease. Within one generation of the original
D
utch family in which the dominant
LRSAM1
mutation was identified, three of the five affected family members have developed
P
arkinson's disease between ages 50 and 65 years, many years after neuropathy onset. We speculate that this late‐onset parkinsonism is part of the
LRSAM
1 phenotype, thus associating a hitherto peripheral nerve disease with a central nervous system phenotype. How the mutated Lrsam1 protein, which normally has E3 ubiquitin ligase activity and is expressed in the nervous system, impacts on substantia nigra neurons is unclear.</description><identifier>ISSN: 2328-9503</identifier><identifier>EISSN: 2328-9503</identifier><identifier>DOI: 10.1002/acn3.281</identifier><language>eng</language><publisher>Bognor Regis: John Wiley & Sons, Inc</publisher><subject>Age ; Autophagy ; Legs ; Mutation ; Parkinson's disease ; Proteins ; Walking</subject><ispartof>Annals of clinical and translational neurology, 2016-02, Vol.3 (2), p.146-149</ispartof><rights>2016. This work is published under http://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><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c1003-e297331f58593e040bc6dbefe8593d00802f83251c34ccb8eac9b856813876643</citedby><cites>FETCH-LOGICAL-c1003-e297331f58593e040bc6dbefe8593d00802f83251c34ccb8eac9b856813876643</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.proquest.com/docview/2289718433/fulltextPDF?pq-origsite=primo$$EPDF$$P50$$Gproquest$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://www.proquest.com/docview/2289718433?pq-origsite=primo$$EHTML$$P50$$Gproquest$$Hfree_for_read</linktohtml><link.rule.ids>314,780,784,25753,27924,27925,37012,44590,75126</link.rule.ids></links><search><creatorcontrib>Aerts, Marjolein B.</creatorcontrib><creatorcontrib>Weterman, Marian A. J.</creatorcontrib><creatorcontrib>Quadri, Marialuisa</creatorcontrib><creatorcontrib>Schelhaas, H. Jurgen</creatorcontrib><creatorcontrib>Bloem, Bastiaan R.</creatorcontrib><creatorcontrib>Esselink, Rianne A.</creatorcontrib><creatorcontrib>Baas, Frank</creatorcontrib><creatorcontrib>Bonifati, Vincenzo</creatorcontrib><creatorcontrib>van de Warrenburg, Bart P.</creatorcontrib><title>A LRSAM1 mutation links Charcot–Marie–Tooth type 2 to P arkinson's disease</title><title>Annals of clinical and translational neurology</title><description>LRSAM1
mutations have been found in recessive and dominant forms of
C
harcot–
M
arie–
T
ooth disease. Within one generation of the original
D
utch family in which the dominant
LRSAM1
mutation was identified, three of the five affected family members have developed
P
arkinson's disease between ages 50 and 65 years, many years after neuropathy onset. We speculate that this late‐onset parkinsonism is part of the
LRSAM
1 phenotype, thus associating a hitherto peripheral nerve disease with a central nervous system phenotype. How the mutated Lrsam1 protein, which normally has E3 ubiquitin ligase activity and is expressed in the nervous system, impacts on substantia nigra neurons is unclear.</description><subject>Age</subject><subject>Autophagy</subject><subject>Legs</subject><subject>Mutation</subject><subject>Parkinson's disease</subject><subject>Proteins</subject><subject>Walking</subject><issn>2328-9503</issn><issn>2328-9503</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2016</creationdate><recordtype>article</recordtype><sourceid>PIMPY</sourceid><recordid>eNpNkMtOwzAURC0EElWpxCdYYgGblGvfPJxlVfGSUkBQ1pbjOGr6iIvtLLrjH_hDvoREZcFq5kqjmatDyCWDKQPgt0q3OOWCnZARRy6iPAE8_efPycT7NQAwxhPM-Ig8z2jx9j5bMLrrggqNbem2aTeezlfKaRt-vr4XyjWm16W1YUXDYW8op8HSV6rcpmm9ba89rRpvlDcX5KxWW28mfzomH_d3y_ljVLw8PM1nRaT7PzEyPM8QWZ2IJEcDMZQ6rUpTm-GuAATwWiBPmMZY61IYpfNSJKlgKLI0jXFMro69e2c_O-ODXNvOtf2k5FzkGRMxYp-6Oaa0s947U8u9a3bKHSQDOQCTAzDZA8NfbwFcaA</recordid><startdate>201602</startdate><enddate>201602</enddate><creator>Aerts, Marjolein B.</creator><creator>Weterman, Marian A. 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J. ; Quadri, Marialuisa ; Schelhaas, H. Jurgen ; Bloem, Bastiaan R. ; Esselink, Rianne A. ; Baas, Frank ; Bonifati, Vincenzo ; van de Warrenburg, Bart P.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c1003-e297331f58593e040bc6dbefe8593d00802f83251c34ccb8eac9b856813876643</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2016</creationdate><topic>Age</topic><topic>Autophagy</topic><topic>Legs</topic><topic>Mutation</topic><topic>Parkinson's disease</topic><topic>Proteins</topic><topic>Walking</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Aerts, Marjolein B.</creatorcontrib><creatorcontrib>Weterman, Marian A. J.</creatorcontrib><creatorcontrib>Quadri, Marialuisa</creatorcontrib><creatorcontrib>Schelhaas, H. 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J.</au><au>Quadri, Marialuisa</au><au>Schelhaas, H. Jurgen</au><au>Bloem, Bastiaan R.</au><au>Esselink, Rianne A.</au><au>Baas, Frank</au><au>Bonifati, Vincenzo</au><au>van de Warrenburg, Bart P.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>A LRSAM1 mutation links Charcot–Marie–Tooth type 2 to P arkinson's disease</atitle><jtitle>Annals of clinical and translational neurology</jtitle><date>2016-02</date><risdate>2016</risdate><volume>3</volume><issue>2</issue><spage>146</spage><epage>149</epage><pages>146-149</pages><issn>2328-9503</issn><eissn>2328-9503</eissn><abstract>LRSAM1
mutations have been found in recessive and dominant forms of
C
harcot–
M
arie–
T
ooth disease. Within one generation of the original
D
utch family in which the dominant
LRSAM1
mutation was identified, three of the five affected family members have developed
P
arkinson's disease between ages 50 and 65 years, many years after neuropathy onset. We speculate that this late‐onset parkinsonism is part of the
LRSAM
1 phenotype, thus associating a hitherto peripheral nerve disease with a central nervous system phenotype. How the mutated Lrsam1 protein, which normally has E3 ubiquitin ligase activity and is expressed in the nervous system, impacts on substantia nigra neurons is unclear.</abstract><cop>Bognor Regis</cop><pub>John Wiley & Sons, Inc</pub><doi>10.1002/acn3.281</doi><tpages>4</tpages><oa>free_for_read</oa></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 2328-9503 |
| ispartof | Annals of clinical and translational neurology, 2016-02, Vol.3 (2), p.146-149 |
| issn | 2328-9503 2328-9503 |
| language | eng |
| recordid | cdi_proquest_journals_2289718433 |
| source | Open Access: Wiley-Blackwell Open Access Journals; NCBI_PubMed Central（免费）; Publicly Available Content Database |
| subjects | Age Autophagy Legs Mutation Parkinson's disease Proteins Walking |
| title | A LRSAM1 mutation links Charcot–Marie–Tooth type 2 to P arkinson's disease |
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