Neuronal intranuclear inclusion disease

Alternate names

NIID; Neuronal intranuclear hyaline inclusion disease

Definition

Neuronal intranuclear inclusion disease (NIID) is a slowly progressive, neurodegenerative disease.

Cause

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

Inheritance

Autosomal dominant pattern, a 50/50 chance.

• 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.

Onset

Signs and symptoms may begin anywhere from infancy to late adulthood, and can vary from person to person. In most cases, the disease begins in childhood.

Signs and symptoms

• Symptoms of NIID worsen over time and may include dementia, limb weakness, cerebellar ataxia, dystonia, parkinsonism, seizures, and autonomic dysfunction.
• Therefore, people with NIID may have impairment of balance, movement, cognition, communication, behavior, and the ability to function independently.
• In general, limb weakness and ataxia are more common in children with NIID, while dementia is more common in people diagnosed in adulthood.

Diagnosis

• The rectal and skin biopsy had proved helpful in antemortem diagnosis..
• The diagnostic armamentarium by showing the presence of intranuclear inclusions in smooth muscle cells of the muscle.
• Hence, a high degree of suspicion, magnetic resonance imaging features, with nerve/muscle/skin biopsy can help in diagnosis of NIID.

Treatment

Currently there is no treatment that cures or slows the progression of NIID, but medications that help control symptoms may improve quality of life. While the disease is ultimately fatal, life expectancy can range significantly, from one year to several decades after the diagnosis.

NIH genetic and rare disease info

• NIH info on Neuronal intranuclear inclusion disease

Neuronal intranuclear inclusion disease is a rare disease.

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