Hereditary diffuse leukencephalopathy with spheroids. A microgliopathy due to CSF1 receptor impairment;Hereditäre diffuse leukenzephalopathie mit sphäroiden. Eine mikrogliopathie durch fehlfunktion des CSF1-rezeptors

Nervenarzt

Volumn 85, Issue 4, 2014, Pages 465-470

  Schuberth, M ^a   Levin, J ^a   Sawalhe, D ^a   Schwarzkopf, R ^a   Von Baumgarten, L ^a   Ertl Wagner, B ^b   Rominger, A ^a   Arzberger, T ^a   Kretzschmar, H A ^a   Frobose T ^c   Diehl Schmid, J ^c   Biskup, S ^d,e,f   Danek, A ^a  

^a UNIVERSITY OF MUNICH   (Germany)

^b LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^c TECHNICAL UNIVERSITY OF MUNICH   (Germany)

^d UNIVERSITY OF TÜBINGEN   (Germany)

^e CEGAT GMBH   (Germany)

^f UNIVERSITY OF TÜBINGEN   (Germany)

Author keywords

Colony stimulating factor 1 receptor; Hereditary diffuse leukencephalopathy with spheroids; Leukodystrophy; Microgliopathy; Neurodegeneration

Indexed keywords

COLONY STIMULATING FACTOR RECEPTOR; HIGH DENSITY LIPOPROTEIN; FLUORODEOXYGLUCOSE F 18;

ARTICLE; BRAIN BIOPSY; CASE REPORT; CLINICAL FEATURE; GENE MUTATION; HEMATOLOGIC MALIGNANCY; HEREDITARY DIFFUSE LEUKENCEPHALOPATHY; HUMAN; LEUKOENCEPHALOPATHY; MISSENSE MUTATION; PATHOPHYSIOLOGY; TUMOR SPHEROID; ADULT; BIOPSY; BRAIN; COMPUTER ASSISTED TOMOGRAPHY; DIAGNOSTIC USE; FEMALE; FOLLOW UP; FRONTAL LOBE; GENETIC SCREENING; GENETICS; HETEROZYGOTE DETECTION; LEUKOENCEPHALOPATHIES; MALE; MICROGLIA; MIDDLE AGED; MULTICELLULAR SPHEROID; MULTIMODAL IMAGING; MYELINATED NERVE; NERVE FIBER; NEUROPSYCHOLOGICAL TEST; NUCLEAR MAGNETIC RESONANCE IMAGING; PATHOLOGY; PHENOTYPE; POSITRON EMISSION TOMOGRAPHY; PSYCHOMETRY; STATISTICS AND NUMERICAL DATA; STEREOTACTIC PROCEDURE;

ADULT; AXONS; BIOPSY; BRAIN; FEMALE; FLUORODEOXYGLUCOSE F18; FOLLOW-UP STUDIES; FRONTAL LOBE; GENETIC TESTING; HETEROZYGOTE DETECTION; HUMANS; LEUKOENCEPHALOPATHIES; MAGNETIC RESONANCE IMAGING; MALE; MICROGLIA; MIDDLE AGED; MULTIMODAL IMAGING; MUTATION, MISSENSE; NERVE FIBERS, MYELINATED; NEUROPSYCHOLOGICAL TESTS; PHENOTYPE; POSITRON-EMISSION TOMOGRAPHY; PSYCHOMETRICS; RECEPTOR, MACROPHAGE COLONY-STIMULATING FACTOR; SPHEROIDS, CELLULAR; STEREOTAXIC TECHNIQUES; TOMOGRAPHY, X-RAY COMPUTED;

EID: 84898429289     PISSN: 00282804     EISSN: 14330407     Source Type: Journal    
DOI: 10.1007/s00115-014-4052-4     Document Type: Article

References (23)

1. Axelsson R et al (1984) Hereditary diffuse leucoencephalopathy with spheroids. Acta Psychiatr Scand Suppl 314:1-65
2. Baba Y et al (2006) Hereditary diffuse leukoencephalopathy with spheroids: clinical, pathologic and genetic studies of a new kindred. Acta Neuropathol 111:300-311
3. Guerreiro R et al (2013) Genetic analysis of inherited leukodystrophies: genotype-phenotype correlations in the CSF1R gene. JAMA Neurol 70:875-882
4. Hakola HP (1972) Neuropsychiatric and genetic aspects of a new hereditary disease characterized by progressive dementia and lipomembranous polycystic osteodysplasia. Acta Psychiatr Scand Suppl 232:1-173
5. Hautzinger M (1991) Beck Depressions Inventar in der klinischen Praxis. Nervenarzt 62:689-696
6. Inui T et al (2013) A new CSF1R mutation presenting with an extensive white matter lesion mimicking primary progressive multiple sclerosis. J Neurol Sci 334:192-195
7. Karle K et al (2013) De novo mutations in hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS). Neurology 81:2039-2044
8. Kimura T et al (2013) A clinicopathological and genetic study of sporadic diffuse leukoencephalopathy with spheroids: a report of two cases. Neuropathol Appl Neurobiol 39:837-843
9. Kinoshita M et al (2012) Hereditary diffuse leukoencephalopathy with axonal spheroids caused by R782H mutation in CSF1R: case report. J Neurol Sci 318:115-118
10. Kleinfeld K et al (2013) Adult-onset leukoencephalopathy with neuroaxonal spheroids and pigmented glia: report of five cases and a new mutation. J Neurol 260:558-571
11. Kondo Y et al (2013) Early involvement of the corpus callosum in a patient with hereditary diffuse leukoencephalopathy with spheroids carrying the de novo K793T mutation of CSF1R. Intern Med 52:503-506
12. Konno T, Tada M et al (2014) Haploinsufficiency of CSF-1R and clinicopathologic characterization in patients with HDLS. Neurology 82:139-148
13. Mitsui J et al (2012) CSF1R mutations identified in three families with autosomal dominantly inherited leukoencephalopathy. Am J Med Genet B Neuropsychiatr Genet 159B:951-957
14. Minoshima S et al (1995) A diagnostic approach in Alzheimer's disease using three-dimensional stereotactic surface projections of fluorine-18-FDG PET. J Nucl Med 36:1238-1248
15. Muacevic A, Kreth FW (2003) Der Stellenwert der stereotaktischen Hirnbiopsie für das Management von Patienten mit supratentoriellen Gliomen WHO-Grad-II. Nervenarzt 74:350-354
16. Nasreddine ZS et al (2005) The Montreal Cognitive Assessment, MoCA: a brief screening tool for mild cognitive impairment. J Am Geriatr Soc 53:695-699
17. Rademakers R et al (2012) Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids. Nat Genet 44:200-205
18. Rascovsky K et al (2011) Sensitivity of revised diagnostic criteria for the behavioural variant of frontotemporal dementia. Brain 134:2456-2477
19. Ridge SA et al (1990) FMS mutations in myelodysplastic, leukemic, and normal subjects. Proc Natl Acad Sci U S A 87:1377-1380
20. Saitoh BY et al (2013) A case of hereditary diffuse leukoencephalopathy with axonal spheroids caused by a de novo mutation in CSF1R masquerading as primary progressive multiple sclerosis. Mult Scler 19:1367-1370
21. Schwarz JM et al (2010) MutationTaster evaluates disease-causing potential of sequence alterations. Nat Methods 7:575-576
22. Sundal C et al (2012) Hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS): a misdiagnosed disease entity. J Neurol Sci 314:130-137
23. Sundal C et al (2012) MRI characteristics and scoring in HDLS due to CSF1R gene mutations. Neurology 79:566-574