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Amyotrophic lateral sclerosis-parkinsonism-dementia complex

Disease ID:65
Name:Amyotrophic lateral sclerosis-parkinsonism-dementia complex
Associated with:2 targets
Database Links
OMIM: 105500
Orphanet: ORPHA90020


Role:  Loss of sustained ion influx through TRPM2 might contribute to the development of the disease state
References:  1-2
Mutations:  TRPM2 is associated with 1 mutation. Click here for details
Role:  A defined pathophysiological role for TRPM7 has not been shown but there is a correlation of expression of the TRPM7 variant in patients with these clinical disorders.
References:  3
Mutations:  TRPM7 is associated with 1 mutation. Click here for details


No ligand related data available for Amyotrophic lateral sclerosis-parkinsonism-dementia complex


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1. Hermosura MC, Cui AM, Go RC, Davenport B, Shetler CM, Heizer JW, Schmitz C, Mocz G, Garruto RM, Perraud AL. (2008) Altered functional properties of a TRPM2 variant in Guamanian ALS and PD. Proc Natl Acad Sci USA, 105 (46): 18029-34. [PMID:19004782]

2. Hermosura MC, Garruto RM. (2007) TRPM7 and TRPM2-Candidate susceptibility genes for Western Pacific ALS and PD?. Biochim Biophys Acta, 1772 (8): 822-35. [PMID:17395433]

3. Hermosura MC, Nayakanti H, Dorovkov MV, Calderon FR, Ryazanov AG, Haymer DS, Garruto RM. (2005) A TRPM7 variant shows altered sensitivity to magnesium that may contribute to the pathogenesis of two Guamanian neurodegenerative disorders. Proc Natl Acad Sci USA, 102 (32): 11510-5. [PMID:16051700]