An Italian family affected by Nasu-Hakola disease with a novel genetic mutation in the TREM2 gene [7]

Journal of Neurology Neurosurgery and Psychiatry

Volumn 74, Issue 6, 2003, Pages 825-826

  Soragna, D ^a   Tupler, R ^a   Ratti, M T ^a   Montalbetti, Lorenza ^a   Papi, L ^b   Sestini, R ^b  

^a UNIVERSITY OF PAVIA   (Italy)

^b UNIVERSITY OF FLORENCE   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; BONE DYSPLASIA; CASE REPORT; CLINICAL FEATURE; DISEASE COURSE; GENE; GENE MUTATION; GENETIC ANALYSIS; GENETIC DISORDER; GENETIC LINKAGE; HUMAN; LETTER; LEUKOENCEPHALOPATHY; MEMBRANOUS LIPODYSTROPHY; PEDIGREE; PRIORITY JOURNAL; SEQUENCE ANALYSIS; TREM2 GENE; TYROBP GENE;

EID: 0038015943     PISSN: 00223050     EISSN: None     Source Type: Journal    
DOI: 10.1136/jnnp.74.6.825     Document Type: Letter

References (5)

1. Paloneva J, Autti T, Raininko R, et al. CNS manifestation of Nasu-Hakola disease: a frontal dementia with bone cysts. Neurology 2001;56:1552-8.
2. Paloneva J, Kestila M, Wu J, et al. Loss-of-function mutations in TYROBP (DAPI2) result in a presenile dementia with bone cysts. Nat Genet 2000;25:357-61.
3. Paloneva J, Manninen T, Christman G, et al. Mutations in two genes encoding different subunits of a receptor signaling complex result in an identical disease phenotype. Am J Hum Genet 2002;71:656-62.
4. Pazzaglia UE, Benazzo F, Castelli C, et al. Case report 381. Skeletal Radiol 1986;15:474-7.
5. Malandrini A, Scarpini C, Palmieri S, et al. Palatal myoclonus and unusual MRI findings in a patient with membranous lipodystrophy. Brain Dev 1996;18:59-63.