Assignment of the Locus for PLO-SL, a Frontal-Lobe Dementia with Bone Cysts, to 19q13

作者: Leena Peltonen , Petra Pekkarinen , Iiris Hovatta , Panu Hakola , Osmo Järvi

DOI: 10.1086/301722

关键词: PathologyInternal medicineCystFrontal lobeOsteochondrodysplasiaMedicineCentral nervous system diseaseChromosome 19EndocrinologyLeukoencephalopathyDegenerative diseaseDementia

摘要: Summary PLO-SL (polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy) is a recessively inherited disorder characterized by systemic bone cysts and progressive presenile frontal-lobe dementia, resulting in death at

参考文章(69)
Y. Emori, K. Suzuki, Saho Ohno, Nucleotide sequence of a cDNA coding for the small subunit of human calcium-dependent protease. Nucleic Acids Research. ,vol. 14, pp. 5559- 5559 ,(1986)
C Wood, Membranous lipodystrophy of bone Archives of Pathology & Laboratory Medicine. ,vol. 102, pp. 22- 27 ,(1978)
Ferini-Strambi L, Nemni R, Iannaccone S, Pinto P, Corbo M, Smirne S, Marchettini P, Peripheral motor-sensory neuropathy in membranous lipodystrophy (Nasu's disease): a case report. Clinical Neuropathology. ,vol. 11, pp. 49- 53 ,(1992)
Norio R, Nevanlinna Hr, Perheentupa J, Hereditary diseases in Finland; rare flora in rare soul. Annals of clinical research. ,vol. 5, pp. 109- ,(1973)
Calpain: novel family members, activation, and physiologic function. Biological chemistry Hoppe-Seyler. ,vol. 376, pp. 523- 529 ,(1995) , 10.1515/BCHM3.1995.376.9.523
Joseph D. Terwilliger, Reply to Sham et al. American Journal of Human Genetics. ,vol. 58, pp. 1095- 1096 ,(1996)
Messages from an Isolate: Lessons from the Finnish gene pool Biological chemistry Hoppe-Seyler. ,vol. 376, pp. 697- 704 ,(1995) , 10.1515/BCHM3.1995.376.12.697
Isao Kitajima, Masaru Kuriyama, Fusako Usuki, Shuji Izumo, Mitsuhiro Osame, Tatsuo Suganuma, Fusayoshi Murata, Keiji Nagamatsu, Nasu-Hakola disease (membranous lipodystrophy). Clinical, histopathological and biochemical studies of three cases. Journal of the Neurological Sciences. ,vol. 91, pp. 35- 52 ,(1989) , 10.1016/0022-510X(89)90074-9
Kaisu Nikali, Leena Peltonen, Anu Suomalainen, J Terwilliger, J Weissenbach, Tuula Koskinen, Random search for shared chromosomal regions in four affected individuals: the assignment of a new hereditary ataxia locus. American Journal of Human Genetics. ,vol. 56, pp. 1088- 1095 ,(1995)