Neuronal intranuclear inclusion disease

What is the cause of neuronal intranuclear inclusion disease?

In many families, neuronal intranuclear inclusion disease (NIID) is caused by a genetic change in the NOTCH2NLC gene.

Last updated on 05-01-20

How is neuronal intranuclear inclusion disease inherited in families?

Neuronal intranuclear inclusion disease (NIID) appears to be inherited in an autosomal dominant pattern in families. In some cases, a person will be the first in their family to develop the condition due to new genetic changes in the NOTCH2NLC gene that result in NIID.

Last updated on 05-01-20

What is neuronal intranuclear inclusion disease?

Last updated on 05-01-20

How might neuronal intranuclear inclusion disease affect a person over time?

Last updated on 05-01-20

Selected Full-Text Journal Articles

Neuronal Intranuclear inclusion body disease

Sone J, Mori K, Inagaki T, Katsumata R, Takagi S, Yokoi S, et al. Clinicopathological features of adult-onset neuronal intranuclear inclusion disease. Brain. 2016 Dec; 139(12):3170-3186.

Last updated on 04-27-20

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Sone J, Mitsuhashi S, Fujita A, Mizuuchi T et al. Long-read sequencing identifies GGC repeat expansions in NOTCH2NLC associated with neuronal intranuclear inclusion disease Nature Genet. Aug 2019; 51(8). 1215-1221. Reference Link

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