Conditions / Nervous system
neuronal intranuclear inclusion disease
info · Nervous system
A neurodegenerative disease that is characterized by a wide range of clinical manifestations, including pyramidal and extrapyramidal symptoms, cerebellar ataxia, cognitive decline and dementia, peripheral neuropathy, and autonomic dysfunction, and that has_mat
A neurodegenerative disease that is characterized by a wide range of clinical manifestations, including pyramidal and extrapyramidal symptoms, cerebellar ataxia, cognitive decline and dementia, peripheral neuropathy, and autonomic dysfunction, and that has_material_basis_in heterozygous repeat expansion (CGG) in the 5-prime untranslated region of the NOTCH2NLC gene on chromosome 1q21.
Signs and symptoms
- Decreased motor nerve conduction velocity
- Ventriculomegaly
- Leukoencephalopathy
- Dementia
- Decreased sensory nerve conduction velocity
- Miosis
- Increased CSF protein concentration
- Somatic sensory dysfunction
- Intranuclear inclusion bodies
- Muscle weakness