Lhermitte-Duclos disease
Lhermitte-Duclos disease | |
OMIM | 158350 |
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] ; Associate Editor(s)-in-Chief: Vamsikrishna Gunnam M.B.B.S [2]
Synonyms and keywords: Dysplastic cerebellar gangliocytoma
Overview
Lhermitte-Duclos disease (LDD) is also called as dysplastic gangliocytoma of the cerebellum. Lhermitte-Duclos disease (LDD) is a very rare disease. Lhermitte-Duclos disease (LDD) follows an autosomal dominant pattern of inheritance. Lhermitte-Duclos disease (LDD) is a rare entity that may occur in the association of Cowden's syndrome (CS). In The United States of America in order to categorise a condition as a rare disease it should affect fewer than 200,000 people. Rare diseases also called as orphan diseases. Orphan Drug Act was passed on 1983 by congress for the rare diseases. Today an average of 25-30 million americans have been reported with rare diseases. The number of people with individual rare disease may be less but overall the number of people with rare diseases are large in number.
Historical Perspective
- Lhermitte-Duclos disease (LDD) was first discovered by Lhermitte and Duclos as "Sur un ganglioneurome diffus du cortex du cervelet", in 1920.[1][2]
Classification
- There is no established system for the classification of Lhermitte-Duclos disease (LDD).
Pathophysiology
- Lhermitte-Duclos disease (LDD) is transmitted in autosomal dominant pattern.
- Genes involved in the pathogenesis of Lhermitte-Duclos disease (LDD) include:[3]
- Mutations in the PTEN gene leads to oncogenesis, and somatic mutations
- Phosphatase and tensin homolog (PTEN) gene plays an important role in the following:
- Phosphoinositide-3-kinase (PI3K)-AKT pathway and
- Rapamycin (mTOR) signaling pathways
- PTEN track backs to 10q23 which encodes and plays a significant role in the following:[4][5][6]
- Effects G1 cell cycle arrest and apoptosis
- Cellular proliferation and
- Migration
- Apoptosis
Causes
Differentiating Xyz from other Diseases
Epidemiology and Demographics
Risk Factors
Screening
Natural History, Complications and Prognosis
Diagnosis
Treatment
Etiology
Clinical signs
References
- ↑ Bhatia JK, Bhatoe HS, Vadhanan S (December 2016). "Lhermitte-Duclos disease: A rare entity". Med J Armed Forces India. 72 (Suppl 1): S147–S149. doi:10.1016/j.mjafi.2016.03.012. PMC 5192211. PMID 28050098.
- ↑ Kumar R, Vaid VK, Kalra SK (July 2007). "Lhermitte-Duclos disease". Childs Nerv Syst. 23 (7): 729–32. doi:10.1007/s00381-006-0271-8. PMID 17221273.
- ↑ Pilarski, R.; Burt, R.; Kohlman, W.; Pho, L.; Shannon, K. M.; Swisher, E. (2013). "Cowden Syndrome and the PTEN Hamartoma Tumor Syndrome: Systematic Review and Revised Diagnostic Criteria". JNCI Journal of the National Cancer Institute. 105 (21): 1607–1616. doi:10.1093/jnci/djt277. ISSN 0027-8874.
- ↑ Stambolic V, Suzuki A, de la Pompa JL, Brothers GM, Mirtsos C, Sasaki T, Ruland J, Penninger JM, Siderovski DP, Mak TW (October 1998). "Negative regulation of PKB/Akt-dependent cell survival by the tumor suppressor PTEN". Cell. 95 (1): 29–39. PMID 9778245.
- ↑ Nelen MR, Padberg GW, Peeters EA, Lin AY, van den Helm B, Frants RR, Coulon V, Goldstein AM, van Reen MM, Easton DF, Eeles RA, Hodgsen S, Mulvihill JJ, Murday VA, Tucker MA, Mariman EC, Starink TM, Ponder BA, Ropers HH, Kremer H, Longy M, Eng C (May 1996). "Localization of the gene for Cowden disease to chromosome 10q22-23". Nat. Genet. 13 (1): 114–6. doi:10.1038/ng0596-114. PMID 8673088.
- ↑ Keniry M, Parsons R (September 2008). "The role of PTEN signaling perturbations in cancer and in targeted therapy". Oncogene. 27 (41): 5477–85. doi:10.1038/onc.2008.248. PMID 18794882.