[MIM 603 472]

Acronym for : Neural Intranuclear Inclusion Disease

Autosomal dominant transmission of a mutation (expansion of the repetition of the GGC triplets) of the NOTCH2NLC gene (1q21.2). It is a progressive  neurodegenerative disease with an onset usually between 30 and 70 years of age.

The clinical manifestations can be multiple:

-        pyramidal and extrapyramidal syndromes

-        cerebellar ataxia

-        cognitive decline, dementia

-        peripheral neuropathy and amyotrophy of the limb girdle muscles

-        dysautonomia: orthostatic hypotension, neurologic bladder, intestinal pseudoobstruction

Infantile, juvenile and adult forms.

MRI: leukoencephalopathy, white matter and brainstem abnormalities

Biopsy: intranuclear inclusions in all cells of the body (skin biopsy)

Anesthetic implications:

dementia, increased risk of periprocedural  hypotension

References : 

-        Kinoshita M,  Mutoh S, Kasai A, Kawanishi R, Tanaka K.
General anesthesia in a patient with Neuronal Intranuclear Inclusion Disease: a case report.
A&A Practice 2022;16:e01633.

Updated: December 2022