LMNB1-related autosomal-dominant leukodystrophy: Clinical and radiological course
Objective Duplication of the LMNB1 gene encoding lamin B1 causes adult‐onset autosomal‐dominant leukodystrophy (ADLD) starting with autonomic symptoms, which are followed by pyramidal signs and ataxia. Magnetic resonance imaging (MRI) of the brain reveals characteristic findings. This is the first l...
Saved in:
| Published in | Annals of neurology Vol. 78; no. 3; pp. 412 - 425 |
|---|---|
| Main Authors | , , , , |
| Format | Journal Article |
| Language | English |
| Published |
United States
Blackwell Publishing Ltd
01.09.2015
Wiley Subscription Services, Inc John Wiley and Sons Inc |
| Subjects | |
| Online Access | Get full text |
Cover
Loading…
| Abstract | Objective
Duplication of the LMNB1 gene encoding lamin B1 causes adult‐onset autosomal‐dominant leukodystrophy (ADLD) starting with autonomic symptoms, which are followed by pyramidal signs and ataxia. Magnetic resonance imaging (MRI) of the brain reveals characteristic findings. This is the first longitudinal study on this disease. Our objective is to describe the natural clinical and radiological course of LMNB1‐related ADLD.
Methods
Twenty‐three subjects in two families with LMNB1 duplications were studied over two decades with clinical assessment and MRI of the brain and spinal cord. They were 29 to 70 years old at their first MRI. Repeated MRIs were performed in 14 subjects over a time period of up to 17 years.
Results
Pathological MRI findings were found in the brain and spinal cord in all examinations (i.e., even preceding clinical symptoms). MRI changes and clinical symptoms progressed in a definite order. Autonomic dysfunction appeared in the fifth to sixth decade, preceding or together with gait and coordination difficulties. Motor signs developed ascending from spastic paraplegia to tetraplegia and pseudobulbar palsy in the seventh decade. There were clinical, radiological, and neurophysiological signs of myelopathy. Survival lasted more than two decades after clinical onset.
Interpretation
LMNB1‐related ADLD is a slowly progressive neurological disease. MRI abnormalities of the brain and spinal cord can precede clinical symptoms by more than a decade and are extensive in all symptomatic patients. Spinal cord involvement is a likely contributing factor to early autonomic symptoms and spastic paraplegia. Ann Neurol 2015;78:412–425 |
|---|---|
| AbstractList | Duplication of the LMNB1 gene encoding lamin B1 causes adult-onset autosomal-dominant leukodystrophy (ADLD) starting with autonomic symptoms, which are followed by pyramidal signs and ataxia. Magnetic resonance imaging (MRI) of the brain reveals characteristic findings. This is the first longitudinal study on this disease. Our objective is to describe the natural clinical and radiological course of LMNB1-related ADLD.
Twenty-three subjects in two families with LMNB1 duplications were studied over two decades with clinical assessment and MRI of the brain and spinal cord. They were 29 to 70 years old at their first MRI. Repeated MRIs were performed in 14 subjects over a time period of up to 17 years.
Pathological MRI findings were found in the brain and spinal cord in all examinations (i.e., even preceding clinical symptoms). MRI changes and clinical symptoms progressed in a definite order. Autonomic dysfunction appeared in the fifth to sixth decade, preceding or together with gait and coordination difficulties. Motor signs developed ascending from spastic paraplegia to tetraplegia and pseudobulbar palsy in the seventh decade. There were clinical, radiological, and neurophysiological signs of myelopathy. Survival lasted more than two decades after clinical onset.
LMNB1-related ADLD is a slowly progressive neurological disease. MRI abnormalities of the brain and spinal cord can precede clinical symptoms by more than a decade and are extensive in all symptomatic patients. Spinal cord involvement is a likely contributing factor to early autonomic symptoms and spastic paraplegia. OBJECTIVEDuplication of the LMNB1 gene encoding lamin B1 causes adult-onset autosomal-dominant leukodystrophy (ADLD) starting with autonomic symptoms, which are followed by pyramidal signs and ataxia. Magnetic resonance imaging (MRI) of the brain reveals characteristic findings. This is the first longitudinal study on this disease. Our objective is to describe the natural clinical and radiological course of LMNB1-related ADLD.METHODSTwenty-three subjects in two families with LMNB1 duplications were studied over two decades with clinical assessment and MRI of the brain and spinal cord. They were 29 to 70 years old at their first MRI. Repeated MRIs were performed in 14 subjects over a time period of up to 17 years.RESULTSPathological MRI findings were found in the brain and spinal cord in all examinations (i.e., even preceding clinical symptoms). MRI changes and clinical symptoms progressed in a definite order. Autonomic dysfunction appeared in the fifth to sixth decade, preceding or together with gait and coordination difficulties. Motor signs developed ascending from spastic paraplegia to tetraplegia and pseudobulbar palsy in the seventh decade. There were clinical, radiological, and neurophysiological signs of myelopathy. Survival lasted more than two decades after clinical onset.INTERPRETATIONLMNB1-related ADLD is a slowly progressive neurological disease. MRI abnormalities of the brain and spinal cord can precede clinical symptoms by more than a decade and are extensive in all symptomatic patients. Spinal cord involvement is a likely contributing factor to early autonomic symptoms and spastic paraplegia. Objective Duplication of the LMNB1 gene encoding lamin B1 causes adult-onset autosomal-dominant leukodystrophy (ADLD) starting with autonomic symptoms, which are followed by pyramidal signs and ataxia. Magnetic resonance imaging (MRI) of the brain reveals characteristic findings. This is the first longitudinal study on this disease. Our objective is to describe the natural clinical and radiological course of LMNB1-related ADLD. Methods Twenty-three subjects in two families with LMNB1 duplications were studied over two decades with clinical assessment and MRI of the brain and spinal cord. They were 29 to 70 years old at their first MRI. Repeated MRIs were performed in 14 subjects over a time period of up to 17 years. Results Pathological MRI findings were found in the brain and spinal cord in all examinations (i.e., even preceding clinical symptoms). MRI changes and clinical symptoms progressed in a definite order. Autonomic dysfunction appeared in the fifth to sixth decade, preceding or together with gait and coordination difficulties. Motor signs developed ascending from spastic paraplegia to tetraplegia and pseudobulbar palsy in the seventh decade. There were clinical, radiological, and neurophysiological signs of myelopathy. Survival lasted more than two decades after clinical onset. Interpretation LMNB1-related ADLD is a slowly progressive neurological disease. MRI abnormalities of the brain and spinal cord can precede clinical symptoms by more than a decade and are extensive in all symptomatic patients. Spinal cord involvement is a likely contributing factor to early autonomic symptoms and spastic paraplegia. Ann Neurol 2015; 78:412-425 Objective Duplication of the LMNB1 gene encoding lamin B1 causes adult‐onset autosomal‐dominant leukodystrophy (ADLD) starting with autonomic symptoms, which are followed by pyramidal signs and ataxia. Magnetic resonance imaging (MRI) of the brain reveals characteristic findings. This is the first longitudinal study on this disease. Our objective is to describe the natural clinical and radiological course of LMNB1‐related ADLD. Methods Twenty‐three subjects in two families with LMNB1 duplications were studied over two decades with clinical assessment and MRI of the brain and spinal cord. They were 29 to 70 years old at their first MRI. Repeated MRIs were performed in 14 subjects over a time period of up to 17 years. Results Pathological MRI findings were found in the brain and spinal cord in all examinations (i.e., even preceding clinical symptoms). MRI changes and clinical symptoms progressed in a definite order. Autonomic dysfunction appeared in the fifth to sixth decade, preceding or together with gait and coordination difficulties. Motor signs developed ascending from spastic paraplegia to tetraplegia and pseudobulbar palsy in the seventh decade. There were clinical, radiological, and neurophysiological signs of myelopathy. Survival lasted more than two decades after clinical onset. Interpretation LMNB1‐related ADLD is a slowly progressive neurological disease. MRI abnormalities of the brain and spinal cord can precede clinical symptoms by more than a decade and are extensive in all symptomatic patients. Spinal cord involvement is a likely contributing factor to early autonomic symptoms and spastic paraplegia. Ann Neurol 2015;78:412–425 OBJECTIVE: Duplication of the LMNB1 gene encoding lamin B1 causes adult-onset autosomal-dominant leukodystrophy (ADLD) starting with autonomic symptoms, which are followed by pyramidal signs and ataxia. Magnetic resonance imaging (MRI) of the brain reveals characteristic findings. This is the first longitudinal study on this disease. Our objective is to describe the natural clinical and radiological course of LMNB1-related ADLD. METHODS: Twenty-three subjects in two families with LMNB1 duplications were studied over two decades with clinical assessment and MRI of the brain and spinal cord. They were 29 to 70 years old at their first MRI. Repeated MRIs were performed in 14 subjects over a time period of up to 17 years. RESULTS: Pathological MRI findings were found in the brain and spinal cord in all examinations (i.e., even preceding clinical symptoms). MRI changes and clinical symptoms progressed in a definite order. Autonomic dysfunction appeared in the fifth to sixth decade, preceding or together with gait and coordination difficulties. Motor signs developed ascending from spastic paraplegia to tetraplegia and pseudobulbar palsy in the seventh decade. There were clinical, radiological, and neurophysiological signs of myelopathy. Survival lasted more than two decades after clinical onset. INTERPRETATION: LMNB1-related ADLD is a slowly progressive neurological disease. MRI abnormalities of the brain and spinal cord can precede clinical symptoms by more than a decade and are extensive in all symptomatic patients. Spinal cord involvement is a likely contributing factor to early autonomic symptoms and spastic paraplegia. Ann Neurol 2015;78:412-425. |
| Author | Dahl, Niklas Sundblom, Jimmy Finnsson, Johannes Melberg, Atle Raininko, Raili |
| AuthorAffiliation | 2 Department of Neuroscience Neurology Uppsala University Uppsala Sweden 1 Department of Radiology Uppsala University Uppsala Sweden 3 Department of Immunology Genetics and Pathology Science for Life Laboratory Uppsala University Uppsala Sweden |
| AuthorAffiliation_xml | – name: 2 Department of Neuroscience Neurology Uppsala University Uppsala Sweden – name: 1 Department of Radiology Uppsala University Uppsala Sweden – name: 3 Department of Immunology Genetics and Pathology Science for Life Laboratory Uppsala University Uppsala Sweden |
| Author_xml | – sequence: 1 givenname: Johannes surname: Finnsson fullname: Finnsson, Johannes email: johannes.finnsson@icloud.com organization: Department of Radiology, Uppsala University, Uppsala, Sweden – sequence: 2 givenname: Jimmy surname: Sundblom fullname: Sundblom, Jimmy organization: Department of Neuroscience, Neurology, Uppsala University, Uppsala, Sweden – sequence: 3 givenname: Niklas surname: Dahl fullname: Dahl, Niklas organization: Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University, Uppsala, Sweden – sequence: 4 givenname: Atle surname: Melberg fullname: Melberg, Atle organization: Department of Neuroscience, Neurology, Uppsala University, Uppsala, Sweden – sequence: 5 givenname: Raili surname: Raininko fullname: Raininko, Raili organization: Department of Radiology, Uppsala University, Uppsala, Sweden |
| BackLink | https://www.ncbi.nlm.nih.gov/pubmed/26053668$$D View this record in MEDLINE/PubMed https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-261207$$DView record from Swedish Publication Index |
| BookMark | eNqNkk9vEzEQxS1URNPCgS-AVuLCgW3Hf3fDASmkUBAhgASFm-VdO6lbrx3sXUq-PU5SIsqJky3P7z29Gc8ROvDBG4QeYzjBAORUeXVCGOPkHhphTnFZEzY-QCOggpUcU3aIjlK6AoCxwPAAHRIBnApRj9Dn2Yf5K1xG41RvdKGGPqTQKVfq0FmvfF84M1wHvU59DKvL9Yti6qy3rXKF8rqIStvgwnL70IYhJvMQ3V8ol8yj2_MYfX3z-sv0bTn7eP5uOpmVljNKSpyDigYL0rLawAILoRe5BV4blsu10aoBVjMtwPDckqirJp8VY6ohDMiCHqPnO990Y1ZDI1fRdiquZVBWntmLiQxxKYdBEoEJVBl_ucMz2xndGt9H5e6o7la8vZTL8FNy4DkHzwbPbg1i-DGY1MvOptY4p7wJQ5K4woQLxoH-BwqCwJiTjevTf9CrPEWfB7ehuKBjXm_CP_k7_D71n3_MwOkOuLHOrPd1DHKzIDIviNwuiJzMJ9tLVpQ7hU29-bVXqHgtRUUrLr_Nz2WFP_Gz9xdMfqe_AeEMvH0 |
| ContentType | Journal Article |
| Copyright | 2014 The Authors. Annals of Neurology published by Wiley Periodicals, Inc. on behalf of American Neurological Association. 2015 American Neurological Association. 2015 American Neurological Association |
| Copyright_xml | – notice: 2014 The Authors. Annals of Neurology published by Wiley Periodicals, Inc. on behalf of American Neurological Association. – notice: 2015 American Neurological Association. – notice: 2015 American Neurological Association |
| DBID | BSCLL 24P WIN CGR CUY CVF ECM EIF NPM 7TK 7U7 C1K K9. 7X8 5PM ACNBI ADTPV AOWAS D8T DF2 ZZAVC |
| DOI | 10.1002/ana.24452 |
| DatabaseName | Istex Wiley Online Library Wiley Online Library Open Access Medline MEDLINE MEDLINE (Ovid) MEDLINE MEDLINE PubMed Neurosciences Abstracts Toxicology Abstracts Environmental Sciences and Pollution Management ProQuest Health & Medical Complete (Alumni) MEDLINE - Academic PubMed Central (Full Participant titles) SWEPUB Uppsala universitet full text SwePub SwePub Articles SWEPUB Freely available online SWEPUB Uppsala universitet SwePub Articles full text |
| DatabaseTitle | MEDLINE Medline Complete MEDLINE with Full Text PubMed MEDLINE (Ovid) ProQuest Health & Medical Complete (Alumni) Toxicology Abstracts Neurosciences Abstracts Environmental Sciences and Pollution Management MEDLINE - Academic |
| DatabaseTitleList | MEDLINE MEDLINE - Academic Neurosciences Abstracts ProQuest Health & Medical Complete (Alumni) |
| Database_xml | – sequence: 1 dbid: 24P name: Wiley Online Library url: https://authorservices.wiley.com/open-science/open-access/browse-journals.html sourceTypes: Publisher – sequence: 2 dbid: NPM name: PubMed url: https://proxy.k.utb.cz/login?url=http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=PubMed sourceTypes: Index Database – sequence: 3 dbid: EIF name: MEDLINE url: https://proxy.k.utb.cz/login?url=https://www.webofscience.com/wos/medline/basic-search sourceTypes: Index Database |
| DeliveryMethod | fulltext_linktorsrc |
| Discipline | Medicine |
| DocumentTitleAlternate | LMNB1‐related ADLD |
| EISSN | 1531-8249 |
| EndPage | 425 |
| ExternalDocumentID | oai_DiVA_org_uu_261207 3783664471 26053668 ANA24452 ark_67375_WNG_71P5DKV4_X |
| Genre | article Research Support, Non-U.S. Gov't Journal Article |
| GrantInformation_xml | – fundername: Swedish Medical Research Council funderid: 73X‐13158; K2013‐66X‐10829‐20‐3 – fundername: Ländell Foundation – fundername: Hedberg Foundation for Medical Research – fundername: Selander Foundation – fundername: Swedish Medical Research Council grantid: 73X‐13158; K2013‐66X‐10829‐20‐3 |
| GroupedDBID | --- .3N .55 .GA .GJ .Y3 05W 0R~ 10A 1CY 1L6 1OB 1OC 1ZS 23M 2QL 31~ 33P 3O- 3SF 3WU 4.4 4ZD 50Y 50Z 51W 51X 52M 52N 52O 52P 52R 52S 52T 52U 52V 52W 52X 53G 5GY 5VS 66C 6J9 6P2 6PF 702 7PT 8-0 8-1 8-3 8-4 8-5 8UM 930 A01 A03 AAEJM AAESR AAEVG AAHHS AANLZ AAONW AAQQT AASGY AAWTL AAXRX AAZKR ABCQN ABCUV ABEML ABIJN ABIVO ABJNI ABLJU ABOCM ABPVW ABQWH ABXGK ACAHQ ACBMB ACBWZ ACCFJ ACCZN ACGFO ACGFS ACGOF ACMXC ACPOU ACPRK ACRZS ACSCC ACXBN ACXQS ADBBV ADBTR ADEOM ADIZJ ADKYN ADMGS ADOZA ADXAS ADZMN ADZOD AEEZP AEGXH AEIGN AEIMD AENEX AEQDE AEUQT AEUYR AFAZI AFBPY AFFNX AFFPM AFGKR AFPWT AFRAH AFZJQ AHBTC AHMBA AI. AIACR AIAGR AITYG AIURR AIWBW AJBDE AJJEV ALAGY ALMA_UNASSIGNED_HOLDINGS ALUQN AMBMR AMYDB ASPBG ATUGU AVWKF AZBYB AZFZN AZVAB BAFTC BDRZF BFHJK BHBCM BMXJE BROTX BRXPI BSCLL BY8 C45 CS3 D-6 D-7 D-E D-F DCZOG DPXWK DR1 DR2 DRFUL DRMAN DRSTM EBS EJD EMOBN F00 F01 F04 F5P F8P FEDTE FUBAC FYBCS G-S G.N GNP GODZA GOZPB GRPMH H.X HBH HF~ HGLYW HHY HHZ HVGLF HZ~ IX1 J0M J5H JPC KBYEO KD1 KQQ L7B LATKE LAW LC2 LC3 LEEKS LH4 LITHE LOXES LP6 LP7 LUTES LW6 LXL LXN LXY LYRES M6M MEWTI MK4 MRFUL MRMAN MRSTM MSFUL MSMAN MSSTM MXFUL MXMAN MXSTM N04 N05 N4W N9A NF~ NNB O66 O9- OHT OIG OVD P2P P2W P2X P2Z P4B P4D PALCI PQQKQ Q.- Q.N Q11 QB0 QRW R.K RIWAO RJQFR ROL RWD RWI RX1 SAMSI SJN SUPJJ TEORI UB1 V2E V8K V9Y VH1 W8V W99 WBKPD WH7 WHWMO WIB WIH WIJ WIK WJL WOHZO WQJ WRC WUP WVDHM WXI WXSBR X7M XG1 XJT XPP XSW XV2 YOC YQJ ZGI ZRF ZRR ZXP ZZTAW ~IA ~WT ~X8 24P WIN CGR CUY CVF ECM EIF NPM 7TK 7U7 C1K K9. 7X8 5PM ACNBI ADTPV AOWAS D8T DF2 ZZAVC |
| ID | FETCH-LOGICAL-i5432-11536b162c48e0f166df44558e44328edab0484d60e5531687b553744ab2402f3 |
| IEDL.DBID | 24P |
| ISSN | 0364-5134 1531-8249 |
| IngestDate | Sat Aug 24 00:45:08 EDT 2024 Tue Sep 17 21:17:12 EDT 2024 Thu Aug 15 22:38:54 EDT 2024 Fri Aug 16 04:25:14 EDT 2024 Thu Oct 10 21:58:59 EDT 2024 Sat Nov 02 12:14:16 EDT 2024 Sat Aug 24 00:57:44 EDT 2024 Wed Oct 30 09:56:06 EDT 2024 |
| IsDoiOpenAccess | true |
| IsOpenAccess | true |
| IsPeerReviewed | true |
| IsScholarly | true |
| Issue | 3 |
| Language | English |
| License | Attribution-NonCommercial 2015 American Neurological Association. This is an open access article under the terms of the Creative Commons Attribution‐NonCommercial License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited and is not used for commercial purposes. |
| LinkModel | DirectLink |
| MergedId | FETCHMERGED-LOGICAL-i5432-11536b162c48e0f166df44558e44328edab0484d60e5531687b553744ab2402f3 |
| Notes | istex:2BC5EE7E506006A672C83C5941F9C98B003ECA3D Hedberg Foundation for Medical Research Ländell Foundation ark:/67375/WNG-71P5DKV4-X Selander Foundation Swedish Medical Research Council - No. 73X-13158; No. K2013-66X-10829-20-3 ArticleID:ANA24452 Contributed equally. ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23 |
| OpenAccessLink | https://onlinelibrary.wiley.com/doi/abs/10.1002%2Fana.24452 |
| PMID | 26053668 |
| PQID | 1705639587 |
| PQPubID | 946345 |
| PageCount | 14 |
| ParticipantIDs | swepub_primary_oai_DiVA_org_uu_261207 pubmedcentral_primary_oai_pubmedcentral_nih_gov_5054845 proquest_miscellaneous_1712564503 proquest_miscellaneous_1706209525 proquest_journals_1705639587 pubmed_primary_26053668 wiley_primary_10_1002_ana_24452_ANA24452 istex_primary_ark_67375_WNG_71P5DKV4_X |
| PublicationCentury | 2000 |
| PublicationDate | September 2015 |
| PublicationDateYYYYMMDD | 2015-09-01 |
| PublicationDate_xml | – month: 09 year: 2015 text: September 2015 |
| PublicationDecade | 2010 |
| PublicationPlace | United States |
| PublicationPlace_xml | – name: United States – name: Minneapolis – name: Hoboken |
| PublicationTitle | Annals of neurology |
| PublicationTitleAlternate | Ann Neurol |
| PublicationYear | 2015 |
| Publisher | Blackwell Publishing Ltd Wiley Subscription Services, Inc John Wiley and Sons Inc |
| Publisher_xml | – name: Blackwell Publishing Ltd – name: Wiley Subscription Services, Inc – name: John Wiley and Sons Inc |
| References | Melberg A, Hallberg L, Kalimo H, Raininko R. MR characteristics and neuropathology in adult-onset autosomal dominant leukodystrophy with autonomic symptoms. AJNR Am J Neuroradiol 2006;27:904-911. Eldridge R, Anayiotos CP, Schlesinger S, et al. Hereditary adult-onset leukodystrophy simulating chronic progressive multiple sclerosis. N Engl J Med 1984;311:948-953. Mochel F, Schiffmann R, Steenweg ME, et al. Adult polyglucosan body disease: Natural History and Key Magnetic Resonance Imaging Findings. Ann Neurol 2012;72:433-441. Molloy A, Cotter O, van Spaendonk R, et al. A patient with a rare leukodystrophy related to lamin B1 duplication. Ir Med J 2012;105:186-187. Krabbe K, Nielsen JE, Fallentin E, et al. MRI of autosomal dominant pure spastic paraplegia. Neuroradiology 1997;39:724-727. Pareyson D, Fancellu R, Mariotti C, et al. Adult-onset Alexander disease: a series of eleven unrelated cases with review of the literature. Brain 2008;131:2321-2331. Finnsson J, Melberg A, Raininko R. 1H-MR spectroscopy of adult-onset autosomal dominant leukodystrophy with autonomic symptoms. Neuroradiology 2013;55:933-939. Sundblom J, Melberg A, Kalimo H, et al. MR imaging characteristics and neuropathology of the spinal cord in adult-onset autosomal dominant leukodystrophy with autonomic symptoms. AJNR Am J Neuroradiol 2009;30:328-335. Schwankhaus JD, Katz DA, Eldridge R, et al. Clinical and pathological features of an autosomal dominant, adult-onset leukodystrophy simulating chronic progressive multiple sclerosis. Arch Neurol 1994;51:757-766. Brussino A, Vaula G, Cagnoli C, et al. A novel family with Lamin B1 duplication associated with adult-onset leucoencephalopathy. J Neurol Neurosurg Psychiatry 2009;80:237-240. Meijer IA, Simoes-Lopes AA, Laurent S, et al. A novel duplication confirms the involvement of 5q23.2 in autosomal dominant leukodystrophy. Arch Neurol 2008;65:1496-1501. Salonen O, Autti T, Raininko R, et al. MRI of the brain in neurologically healthy middle-aged and elderly individuals. Neuroradiology 1997;39:537-545. Schuster J, Sundblom J, Thuresson A-C, et al. Genomic duplications mediate overexpression of lamin B1 in adult-onset autosomal dominant leukodystrophy (ADLD) with autonomic symptoms. Neurogenetics 2011;12:65-72. Raininko R, Autti T, Vanhanen SL, et al. The normal brain stem from infancy to old age. A morphometric MRI study. Neuroradiology 1994;36:364-368. Dos Santos MM, Grond-Ginsbach C, Aksay SS, et al. Adult-onset autosomal dominant leukodystrophy due to LMNB1 gene duplication. J Neurol 2012;259:579-581. Okamoto Y, Mitsuyama H, Jonosono M, et al. Autosomal dominant palatal myoclonus and spinal cord atrophy. J Neurol Sci 2002;195:71-76. Potic A, Pavlovic AM, Uziel G, et al. Adult-onset autosomal dominant leukodystrophy without early autonomic dysfunctions linked to lamin B1 duplication: a phenotypic variant. J Neurol 2013;260:2124-2129. Kohlschütter A, Bley A, Brockmann K, et al. Leukodystrophies and other genetic metabolic leukoencephalopathies in children and adults. Brain Dev 2010;32:82-89. Guaraldi P, Donadio V, Capellari S, et al. Isolated noradrenergic failure in adult-onset autosomal dominant leukodystrophy. Auton Neurosci 2011;159:123-126. Wang C, Melberg A, Weis J, et al. The earliest MR imaging and proton MR spectroscopy abnormalities in adult-onset Krabbe disease. Acta Neurol Scand 2007;116:268-272. Martidis A, Yee RD, Azzarelli B, Biller J. Neuro-ophthalmic, radiographic, and pathologic manifestations of adult-onset Alexander disease. Arch Ophthalmol 1999;117:265-267. Brussino A, Vaula G, Cagnoli C, et al. A family with autosomal dominant leukodystrophy linked to 5q23.2-q23.3 without lamin B1 mutations. Eur J Neurol 2010;17:541-549. Brunberg JA, Jacquemont S, Hagerman RJ, et al. Fragile X premutation carriers: characteristic MR imaging findings of adult male patients with progressive cerebellar and cognitive dysfunction. AJNR Am J Neuroradiol 2002;23:1757-1766. Laforce R, Roy M, Descoteaux M, et al. Neurocognitive deficits and diffusion MR imaging abnormalities in a case of adult-onset autosomal dominant leukodystrophy. Transl Neurosci 2013;4:513-515. Padiath QS, Saigoh K, Schiffmann R, et al. Lamin B1 duplications cause autosomal dominant leukodystrophy. Nat Genet 2006;38:1114-1123. Giorgio E, Rolyan H, Kropp L, et al. Analysis of LMNB1 duplications in autosomal dominant leukodystrophy provides insights into duplication mechanisms and allele-specific expression. Hum Mutat 2013;34:1160-1171. Fogel BL, Lee JY, Lane J, et al. Mutations in rare ataxia genes are uncommon causes of sporadic cerebellar ataxia. Mov Disord 2012;27:442-446. Lin ST, Fu YH. miR-23 regulation of lamin B1 is crucial for oligodendrocyte development and myelination. Dis Model Mech 2009;2:178-188. Flanagan EP, Gavrilova RH, Boeve BF, et al. Adult-onset autosomal dominant leukodystrophy presenting with REM sleep behavior disorder. Neurology 2013;80:118-120. Kokmen E, Naessens JM, Offord KP. A short test of mental status: description and preliminary results. Mayo Clin Proc 1987;62:281-288. Farina L, Pareyson D, Minati L, et al. Can MR imaging diagnose adult-onset Alexander disease? AJNR Am J Neuroradiol 2008;29:1190-1196. Coffeen CM, McKenna CE, Koeppen AH, et al. Genetic localization of an autosomal dominant leukodystrophy mimicking chronic progressive multiple sclerosis to chromosome 5q31. Hum Mol Genet 2000;9:787-793. Marklund L, Melin M, Melberg A, et al. Adult-onset autosomal dominant leukodystrophy with autonomic symptoms restricted to 1.5 Mbp on chromosome 5q23. Am J Med Genet B Neuropsychiatr Genet 2006;141B:608-614. Brown RT, Polinsky RJ, Schwankhaus J, et al. Adrenergic dysfunction in hereditary adult-onset leukodystrophy. Neurology 1987;37:1421-1424. Schwankhaus JD, Parisi JE, Gulledge WR, et al. Hereditary adult-onset Alexander's disease with palatal myoclonus, spastic paraparesis, and cerebellar ataxia. Neurology 1995;45:2266-2271. 2011; 159 2010; 32 2013; 4 2009; 80 2002; 195 2010; 17 2006; 38 2000; 9 2011; 12 2012; 105 2013; 260 1987; 37 2006; 141B 2012; 72 2009; 30 1987; 62 2007; 116 2013; 55 1984; 311 2013; 34 2006; 27 2008; 29 2002; 23 1995; 45 2013; 80 1997; 39 1994; 36 2008; 65 2012; 27 1999; 117 2009; 2 2012; 259 2008; 131 1994; 51 |
| References_xml | – volume: 260 start-page: 2124 year: 2013 end-page: 2129 article-title: Adult‐onset autosomal dominant leukodystrophy without early autonomic dysfunctions linked to lamin B1 duplication: a phenotypic variant publication-title: J Neurol – volume: 62 start-page: 281 year: 1987 end-page: 288 article-title: A short test of mental status: description and preliminary results publication-title: Mayo Clin Proc – volume: 141B start-page: 608 year: 2006 end-page: 614 article-title: Adult‐onset autosomal dominant leukodystrophy with autonomic symptoms restricted to 1.5 Mbp on chromosome 5q23 publication-title: Am J Med Genet B Neuropsychiatr Genet – volume: 195 start-page: 71 year: 2002 end-page: 76 article-title: Autosomal dominant palatal myoclonus and spinal cord atrophy publication-title: J Neurol Sci – volume: 29 start-page: 1190 year: 2008 end-page: 1196 article-title: Can MR imaging diagnose adult‐onset Alexander disease? publication-title: AJNR Am J Neuroradiol – volume: 34 start-page: 1160 year: 2013 end-page: 1171 article-title: Analysis of LMNB1 duplications in autosomal dominant leukodystrophy provides insights into duplication mechanisms and allele‐specific expression publication-title: Hum Mutat – volume: 117 start-page: 265 year: 1999 end-page: 267 article-title: Neuro‐ophthalmic, radiographic, and pathologic manifestations of adult‐onset Alexander disease publication-title: Arch Ophthalmol – volume: 23 start-page: 1757 year: 2002 end-page: 1766 article-title: Fragile X premutation carriers: characteristic MR imaging findings of adult male patients with progressive cerebellar and cognitive dysfunction publication-title: AJNR Am J Neuroradiol – volume: 39 start-page: 724 year: 1997 end-page: 727 article-title: MRI of autosomal dominant pure spastic paraplegia publication-title: Neuroradiology – volume: 27 start-page: 904 year: 2006 end-page: 911 article-title: MR characteristics and neuropathology in adult‐onset autosomal dominant leukodystrophy with autonomic symptoms publication-title: AJNR Am J Neuroradiol – volume: 159 start-page: 123 year: 2011 end-page: 126 article-title: Isolated noradrenergic failure in adult‐onset autosomal dominant leukodystrophy publication-title: Auton Neurosci – volume: 38 start-page: 1114 year: 2006 end-page: 1123 article-title: Lamin B1 duplications cause autosomal dominant leukodystrophy publication-title: Nat Genet – volume: 80 start-page: 237 year: 2009 end-page: 240 article-title: A novel family with Lamin B1 duplication associated with adult‐onset leucoencephalopathy publication-title: J Neurol Neurosurg Psychiatry – volume: 17 start-page: 541 year: 2010 end-page: 549 article-title: A family with autosomal dominant leukodystrophy linked to 5q23.2‐q23.3 without lamin B1 mutations publication-title: Eur J Neurol – volume: 32 start-page: 82 year: 2010 end-page: 89 article-title: Leukodystrophies and other genetic metabolic leukoencephalopathies in children and adults publication-title: Brain Dev – volume: 37 start-page: 1421 year: 1987 end-page: 1424 article-title: Adrenergic dysfunction in hereditary adult‐onset leukodystrophy publication-title: Neurology – volume: 36 start-page: 364 year: 1994 end-page: 368 article-title: The normal brain stem from infancy to old age. A morphometric MRI study publication-title: Neuroradiology – volume: 131 start-page: 2321 year: 2008 end-page: 2331 article-title: Adult‐onset Alexander disease: a series of eleven unrelated cases with review of the literature publication-title: Brain – volume: 4 start-page: 513 year: 2013 end-page: 515 article-title: Neurocognitive deficits and diffusion MR imaging abnormalities in a case of adult‐onset autosomal dominant leukodystrophy publication-title: Transl Neurosci – volume: 72 start-page: 433 year: 2012 end-page: 441 article-title: Adult polyglucosan body disease: Natural History and Key Magnetic Resonance Imaging Findings publication-title: Ann Neurol – volume: 259 start-page: 579 year: 2012 end-page: 581 article-title: Adult‐onset autosomal dominant leukodystrophy due to LMNB1 gene duplication publication-title: J Neurol – volume: 12 start-page: 65 year: 2011 end-page: 72 article-title: Genomic duplications mediate overexpression of lamin B1 in adult‐onset autosomal dominant leukodystrophy (ADLD) with autonomic symptoms publication-title: Neurogenetics – volume: 27 start-page: 442 year: 2012 end-page: 446 article-title: Mutations in rare ataxia genes are uncommon causes of sporadic cerebellar ataxia publication-title: Mov Disord – volume: 39 start-page: 537 year: 1997 end-page: 545 article-title: MRI of the brain in neurologically healthy middle‐aged and elderly individuals publication-title: Neuroradiology – volume: 45 start-page: 2266 year: 1995 end-page: 2271 article-title: Hereditary adult‐onset Alexander's disease with palatal myoclonus, spastic paraparesis, and cerebellar ataxia publication-title: Neurology – volume: 116 start-page: 268 year: 2007 end-page: 272 article-title: The earliest MR imaging and proton MR spectroscopy abnormalities in adult‐onset Krabbe disease publication-title: Acta Neurol Scand – volume: 65 start-page: 1496 year: 2008 end-page: 1501 article-title: A novel duplication confirms the involvement of 5q23.2 in autosomal dominant leukodystrophy publication-title: Arch Neurol – volume: 2 start-page: 178 year: 2009 end-page: 188 article-title: miR‐23 regulation of lamin B1 is crucial for oligodendrocyte development and myelination publication-title: Dis Model Mech – volume: 80 start-page: 118 year: 2013 end-page: 120 article-title: Adult‐onset autosomal dominant leukodystrophy presenting with REM sleep behavior disorder publication-title: Neurology – volume: 30 start-page: 328 year: 2009 end-page: 335 article-title: MR imaging characteristics and neuropathology of the spinal cord in adult‐onset autosomal dominant leukodystrophy with autonomic symptoms publication-title: AJNR Am J Neuroradiol – volume: 311 start-page: 948 year: 1984 end-page: 953 article-title: Hereditary adult‐onset leukodystrophy simulating chronic progressive multiple sclerosis publication-title: N Engl J Med – volume: 105 start-page: 186 year: 2012 end-page: 187 article-title: A patient with a rare leukodystrophy related to lamin B1 duplication publication-title: Ir Med J – volume: 55 start-page: 933 year: 2013 end-page: 939 article-title: H‐MR spectroscopy of adult‐onset autosomal dominant leukodystrophy with autonomic symptoms publication-title: Neuroradiology – volume: 9 start-page: 787 year: 2000 end-page: 793 article-title: Genetic localization of an autosomal dominant leukodystrophy mimicking chronic progressive multiple sclerosis to chromosome 5q31 publication-title: Hum Mol Genet – volume: 51 start-page: 757 year: 1994 end-page: 766 article-title: Clinical and pathological features of an autosomal dominant, adult‐onset leukodystrophy simulating chronic progressive multiple sclerosis publication-title: Arch Neurol |
| SSID | ssj0009610 |
| Score | 2.3756123 |
| Snippet | Objective
Duplication of the LMNB1 gene encoding lamin B1 causes adult‐onset autosomal‐dominant leukodystrophy (ADLD) starting with autonomic symptoms, which... Duplication of the LMNB1 gene encoding lamin B1 causes adult-onset autosomal-dominant leukodystrophy (ADLD) starting with autonomic symptoms, which are... Objective Duplication of the LMNB1 gene encoding lamin B1 causes adult-onset autosomal-dominant leukodystrophy (ADLD) starting with autonomic symptoms, which... OBJECTIVEDuplication of the LMNB1 gene encoding lamin B1 causes adult-onset autosomal-dominant leukodystrophy (ADLD) starting with autonomic symptoms, which... OBJECTIVE: Duplication of the LMNB1 gene encoding lamin B1 causes adult-onset autosomal-dominant leukodystrophy (ADLD) starting with autonomic symptoms, which... |
| SourceID | swepub pubmedcentral proquest pubmed wiley istex |
| SourceType | Open Access Repository Aggregation Database Index Database Publisher |
| StartPage | 412 |
| SubjectTerms | Adult Aged Brain - diagnostic imaging Female Humans Lamin Type B - genetics Longitudinal Studies Male Middle Aged NMR Nuclear magnetic resonance Paralysis Pelizaeus-Merzbacher Disease - diagnostic imaging Pelizaeus-Merzbacher Disease - genetics Pelizaeus-Merzbacher Disease - mortality Radiography Spinal Cord - diagnostic imaging Spinal cord injuries Survival Rate - trends |
| Title | LMNB1-related autosomal-dominant leukodystrophy: Clinical and radiological course |
| URI | https://api.istex.fr/ark:/67375/WNG-71P5DKV4-X/fulltext.pdf https://onlinelibrary.wiley.com/doi/abs/10.1002%2Fana.24452 https://www.ncbi.nlm.nih.gov/pubmed/26053668 https://www.proquest.com/docview/1705639587 https://search.proquest.com/docview/1706209525 https://search.proquest.com/docview/1712564503 https://pubmed.ncbi.nlm.nih.gov/PMC5054845 https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-261207 |
| Volume | 78 |
| hasFullText | 1 |
| inHoldings | 1 |
| isFullTextHit | |
| isPrint | |
| link | http://utb.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwjV1fb9MwED9NQ0K8IP4TGChIgHjJ5vhfEngqlDEBrSZER98sp3a3aiVGaSPBGx-Bz8gn4eykmaohxEsSxWclvjvbP-fOvwA8RZfVeTEzCZ1TgQuUnCSFJjbJpaGyEDhFUL_feTSWRxP-fiqmO_Bqsxem5YfoP7j5nhHGa9_Bdbk6uCAN1ZXex7lJ4Ph7xTPGeOJ8yo8vGHdloCLwcbZEpIxvaIUIPeirIiL1yvz-N3h5OUuy4xLdhrFhHjq8Adc7ABkPWovfhB1b3YKroy5EfhsmH0fj1-nvn7_CLhVrYt2s3cp91Uu8Z1yb-RIvbXPuzI_Vunao55dxRw-6jHVl4lqbxWZMjGfOp3ncgcnh289vjpLu3wnJQnBGE9QIk2Uq6YznlsxTKc0cWyxyy7E4t0aX2He5kcQK4X9elZV4zjjXpY-3zNld2K1cZe9DrA21pGQ6pQg3CorrC4K1ZcFKzVJDRATPgxLVt5YfQ-n63KeLZUJ9Gb9TWXoshh9OuJpGsLfRsup6ykp5Oh9ESSLPInjSF6OP-8CFrqxrgoykiAWp-JcMQjXJBWER3GsN17-QX7MxKfMIsi2T9gKeY3u7pFqcBa5tBIioJnzus9b4W1WGi5OBcvWpahrlqdgItuFF8I1erGWFpgpdTgWXU4PxIFw8-H_Rh3ANcZpoU9v2YHddN_YRYqF1-Tj4PB6Hn-gfb5oFsg |
| link.rule.ids | 230,315,783,787,888,1378,11574,27936,27937,46064,46306,46488,46730 |
| linkProvider | Wiley-Blackwell |
| linkToHtml | http://utb.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwnV1Lj9MwELZWiwRceD8CCwQJEJd0Hb-SIC6FshS2rRDa7vaCLKd2oWpJUJpIwImfwG_klzB2HqsCQohTonis-DEz_myPPyP0AFRWxclcB2RBOExQYhwkCpsgFpqIhMMQQex55_FEDKfs9YzPdtDT9ixMzQ_RLbhZy3D-2hq4XZDeP2UNVZnqweDEwQGfAXOn9uKGwdtT8qhEOC4Cu9EW8JCyllcIk_0uK0BS25qf_4Qvfw-TbMhEt3GsG4gOLqJ3bRXq-JNVryrT3vzrL-yO_1vHS-hCg1D9fq1Sl9GOya6gs-NmD_4qmo7Gk2fhj2_f3TEYo31Vlfkm_6jW8E3ndWiNvzbVKtdfNmWRQ0c-8Rv-0bWvMu0XSi9bp-vPcxtHcg1ND14cPR8GzeUMwZIzSgJAklSkoSBzFhu8CIXQCygojw2D5NholYJzYFpgw7m9HStK4RkxplK7obOg19FulmfmJvKVJganVIUE8ExCYAKDIbdIaKpoqDH30CPXSfJTTcAhVbGy8WgRlyeTlzIK3_DB4TGTMw_ttb0oG1PcSMsXBDCMx5GH7nfJYER2Z0RlJq-cjCAANgn_mwxgQcE4ph66UStGVyA7KaRCxB6KtlSmE7Ak3tsp2fKDI_MGBArNBP99WCvXVpbB8rgv8-K9rCppud4w1OGxU5hOrKadJhI0RTpNkf1J373c-nfRe-jc8Gg8kqNXk8Pb6DyAQl7H0e2h3bKozB0AXmV619nXT8P9KNk |
| linkToPdf | http://utb.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwjV3NbtQwELaqIlVcEOU3UCBIgLiEOv5LAqeFZSm0G-2BLXuznLVTVt3GVXYjwY1H4Bl5EsZONtUKhDglisdKPDO2P2fGnxF6Bi6r0myuI1ISDguUFEeZwiZKhSYi4zBFELffeZyLoyn7NOOzHfRmsxem5Yfof7i5nuHHa9fBL3V5eEUaqir1CuYmDuPvNQYw3BHnEza5YtwVnorAxdkiHlO2oRXC5LCvCojUKfPb3-Dln1mSHZfoNoz189DoJrrRAchw0Fp8H-2Y6hbaG3ch8ttoejLO38a_fvz0u1SMDlWztit7oZbwTNs28yVcmubc6u-rdW1Bz6_Djh50GapKh7XSi82YGM6tS_O4g6aj95_fHUXd2QnRgjNKIgB6VBSxIHOWGlzGQugSWsxTw6A4NVoV0HeZFthw7g6vSgq4JoypwsVbSnoX7Va2MvdRqDQxuKAqJgA3MgLrCwy1RUYLRWONeYBeeCXKy5YfQ6r63KWLJVx-yT_IJJ7w4fEpk7MAHWy0LLuespKOzgdQEk-TAD3ti8HHXeBCVcY2XkYQwIKE_0sGoJpgHNMA3WsN13-QW7NRIdIAJVsm7QUcx_Z2SbX46rm2ASCCmuC9z1vjb1UZLk4H0tZnsmmko2LD0IaX3jd6sZYVmkhwOeldTg7ygb958P-iT9DeZDiSJx_z44foOkA23ma5HaDddd2YRwCL1sVj7_6_AbHiB10 |
| openUrl | ctx_ver=Z39.88-2004&ctx_enc=info%3Aofi%2Fenc%3AUTF-8&rfr_id=info%3Asid%2Fsummon.serialssolutions.com&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.atitle=LMNB1-related+autosomal-dominant+leukodystrophy%3A+Clinical+and+radiological+course&rft.jtitle=Annals+of+neurology&rft.au=Finnsson%2C+Johannes&rft.au=Sundblom%2C+Jimmy&rft.au=Dahl%2C+Niklas&rft.au=Melberg%2C+Atle&rft.date=2015-09-01&rft.eissn=1531-8249&rft.volume=78&rft.issue=3&rft.spage=412&rft_id=info:doi/10.1002%2Fana.24452&rft_id=info%3Apmid%2F26053668&rft.externalDocID=26053668 |
| thumbnail_l | http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/lc.gif&issn=0364-5134&client=summon |
| thumbnail_m | http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/mc.gif&issn=0364-5134&client=summon |
| thumbnail_s | http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/sc.gif&issn=0364-5134&client=summon |