WFRF:(Haugarvoll K)
Sökning: WFRF:(Haugarvoll K) > Hereditary diffuse ...
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| Fältnamn | Indikatorer | Metadata |
|---|---|---|
| 000 | 04675naa a2200565 4500 | |
| 001 | oai:gup.ub.gu.se/204586 | |
| 003 | SwePub | |
| 008 | 240910s2015 | |||||||||||000 ||eng| | |
| 009 | oai:prod.swepub.kib.ki.se:130466976 | |
| 024 | 7 | a https://gup.ub.gu.se/publication/2045862 URI |
| 024 | 7 | a https://doi.org/10.1111/ene.125722 DOI |
| 024 | 7 | a http://kipublications.ki.se/Default.aspx?queryparsed=id:1304669762 URI |
| 040 | a (SwePub)gud (SwePub)ki | |
| 041 | a eng | |
| 042 | 9 SwePub | |
| 072 | 7 | a ref2 swepub-contenttype |
| 072 | 7 | a art2 swepub-publicationtype |
| 100 | 1 | a Sundal, Christinau Gothenburg University,Göteborgs universitet,Institutionen för neurovetenskap och fysiologi, sektionen för klinisk neurovetenskap och rehabilitering,Institute of Neuroscience and Physiology, Department of Clinical Neuroscience and Rehabilitation4 aut0 (Swepub:gu)xsuchr |
| 245 | 1 0 | a Hereditary diffuse leukoencephalopathy with spheroids with phenotype of primary progressive multiple sclerosis |
| 264 | c 2014-10-13 | |
| 264 | 1 | b Wiley,c 2015 |
| 520 | a Background and purpose Hereditary diffuse leukoencephalopathy with spheroids (HDLS) is a devastating, hereditary white matter (WM) disorder with heterogeneous neuropsychiatric features. Colony stimulating factor 1 receptor (CSF1R) mutations were looked for in primary progressive multiple sclerosis (PPMS) patients and the clinical features of a family with a novel CSF1R mutation are reported. Methods CSF1R exons 12−22 in a cohort of 220 PPMS patients from the Swedish and Norwegian national multiple sclerosis registries were sequenced. Results One patient had a novel mutation, c.2562T>A; p.Asn854Lys, in the CSF1R gene. Her symptoms started at the age of 29 years with insidious onset of pyramidal weakness in the left leg. The cerebrospinal fluid examination showed four intrathecal immunoglobulin G bands. A magnetic resonance imaging scan performed 4 years after symptom onset demonstrated patchy deep WM lesions. She was diagnosed as having PPMS and treated with intramuscular interferon beta 1a. Due to slow disease progression, the development of memory decline and cerebellar signs, she was given subcutaneous interferon beta 1a without any benefit. The updated pedigree indicated that five siblings also had the CSF1R gene mutation; one was diagnosed with PPMS. Six more distant relatives also had a neurological disorder; four were clinically diagnosed with PPMS. Conclusions Our study indicates that a chronic course of HDLS may mimic PPMS. Genetic testing for CSF1R gene mutations in PPMS cases with a positive family history of neurological disorders may establish the diagnosis of HDLS. | |
| 650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Neurologi0 (SwePub)302072 hsv//swe |
| 650 | 7 | a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Neurology0 (SwePub)302072 hsv//eng |
| 653 | a Hereditary leukoencephalopathy with spheroids | |
| 653 | a multiple sclerosis | |
| 653 | a phenotype | |
| 653 | a HDLS | |
| 653 | a PPMS | |
| 653 | a domnant heredity | |
| 700 | 1 | a Baker, M4 aut |
| 700 | 1 | a Karrenbauer, Vu Karolinska Institutet4 aut |
| 700 | 1 | a Gustavsen, M4 aut |
| 700 | 1 | a Bedri, Su Karolinska Institutet4 aut |
| 700 | 1 | a Glaser, Au Karolinska Institutet4 aut |
| 700 | 1 | a Myhr, K-M4 aut |
| 700 | 1 | a Haugarvoll, K4 aut |
| 700 | 1 | a Zetterberg, Henrik,d 1973u Gothenburg University,Göteborgs universitet,Institutionen för neurovetenskap och fysiologi, sektionen för psykiatri och neurokemi,Institute of Neuroscience and Physiology, Department of Psychiatry and Neurochemistry4 aut0 (Swepub:gu)xzethe |
| 700 | 1 | a Harbo, H4 aut |
| 700 | 1 | a Kockum, Iu Karolinska Institutet4 aut |
| 700 | 1 | a Hillert, Ju Karolinska Institutet4 aut |
| 700 | 1 | a Wszolek, Z4 aut |
| 700 | 1 | a Rademakers, R4 aut |
| 700 | 1 | a Andersen, Oluf,d 1941u Gothenburg University,Göteborgs universitet,Institutionen för neurovetenskap och fysiologi, sektionen för klinisk neurovetenskap och rehabilitering,Institute of Neuroscience and Physiology, Department of Clinical Neuroscience and Rehabilitation4 aut0 (Swepub:gu)xandeo |
| 710 | 2 | a Göteborgs universitetb Institutionen för neurovetenskap och fysiologi, sektionen för klinisk neurovetenskap och rehabilitering4 org |
| 773 | 0 | t European Journal of Neurologyd : Wileyg 22:2, s. 328-333q 22:2<328-333x 1351-5101x 1468-1331 |
| 856 | 4 | u https://europepmc.org/articles/pmc4289423?pdf=render |
| 856 | 4 8 | u https://gup.ub.gu.se/publication/204586 |
| 856 | 4 8 | u https://doi.org/10.1111/ene.12572 |
| 856 | 4 8 | u http://kipublications.ki.se/Default.aspx?queryparsed=id:130466976 |
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